<corpus lang='en'>
<lexelt item="mosaic">
<instance id="9245503.ab.2" pmid="9245503" alias="mosaic">
<answer instance="9245503.ab.2" senseid="None"/>
<context>
title Neurotrypsin a novel multidomain serine protease expressed in the nervous system title We have cloned a novel murine cDNA encoding a multidomain serine protease termed neurotrypsin which exhibits an unprecedented domain composition The deduced amino acid sequence defines local a <head>mosaic</head> protein local of 761 amino acids consisting of a kringle domain followed by three scavenger receptor cysteine rich repeats and a serine protease domain Based on comparisons of the primary structure the protease domain belongs to the subfamily of trypsin like serine proteases In situ hybridization revealed that the expression of neurotrypsin in the adult murine nervous system is confined to distinct subsets of neurons The most prominent expression was found in the cerebral cortex the hippocampus and the amygdala Le structures engaged in the processing and storage of learned behaviors and memories Together with the recently obtained evidence that extracellular serine proteases play a role in neural plasticity this expression pattern suggests that the extracellular proteolytic action of neurotrypsin subserves structural reorganizations associated with learning and memory operations
</context>
</instance>
<instance id="9377482.ti.1" pmid="9377482" alias="mosaic">
<answer instance="9377482.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> open reading frames local in the Arabidopsis thaliana mitochondrial genome title In the mitochondrial genome of Arabidopsis thaliana eight mosaic open reading frames arose by recombination of fragments duplicated from one or more mitochondrial genes These duplications represent unedited sequences suggesting their derivation from genomic DNA rather than RNA Five of the chimeric reading frames contain the information for the N terminus of the original polypeptide and 5 upstream regions These observations suggest that the generation of novel open reading frames in plant mitochondria can occur rather easily by chance extensions of duplicated gene fragments The presence of so many mosaic open reading frames in the normal Arabidopsis thaliana mitochondrial genome suggests that such recombined sequences interfere only occasionally and fortuitously with the peak mitochondrial performance presumably required during pollen maturation and usually do not cause a cytoplasmic male sterile phenotype
</context>
</instance>
<instance id="9377811.ab.1" pmid="9377811" alias="mosaic">
<answer instance="9377811.ab.1" senseid="M2"/>
<context>
title Turner syndrome in a mother and daughter r X and fertility title A patient local with <head>mosaic</head> Turner syndrome local and normal fertility had three documented pregnancies She had a 45 X 46 X r X karyotype and did not undergo spontaneous sexual maturation and menarche Conception occurred while on hormone replacement therapy Her first pregnancy ended with the birth of a normal 46 XY male while the third pregnancy resulted in a healthy 45 X 46 X r X female A review of the literature reveals a myriad of theories to account for the variability of ovarian function in Turner syndrome but as yet there are insufficient data to yield any conclusions There appears to be an increased risk of trisomy 21 in the offspring of females with Turner syndrome
</context>
</instance>
<instance id="9325372.ti.1" pmid="9325372" alias="mosaic">
<answer instance="9325372.ti.1" senseid="M1"/>
<context>
title local <head>Mosaic</head> arrangement local of ganglion cell receptive fields in rabbit retina title The arrangement of ganglion cell receptive fields on the retinal surface should constrain several properties of vision including spatial resolution Anatomic and physiological studies on the mammalian retina have shown that the receptive fields of several types of ganglion cells tile the retinal surface with the degree of receptive field overlap apparently being similar for the different classes It has been difficult to test the generality of this arrangement however because it is hard to sample many receptive fields in the same preparation with conventional single unit recording In our experiments the response properties and receptive fields of up to 80 neighboring ganglion cells in the isolated rabbit retina were characterized simultaneously by recording with a multielectrode array The cells were divided into 11 classes on the basis of their characteristic light responses and the temporal structures of their impulse trains The mosaic arrangement of receptive fields for cells of a given class was examined after the spatial profile of each receptive field was fitted with a generalized Gaussian surface For eight cell classes the mosaic arrangement was similar the profiles of neighboring cells approached each other at the 1 sigma border Thus field centers were 2 sigma apart The layout of fields for the remaining three classes was not well characterized because the fields were poorly fitted by a single Gaussian or because the cells responded selectively to movement The 2 sigma center center spacing may be a general principle of functional organization that minimizes spatial aliasing and confers a uniform spatial sensitivity on the ganglion cell population
</context>
</instance>
<instance id="9316278.ab.7" pmid="9316278" alias="mosaic">
<answer instance="9316278.ab.7" senseid="M1"/>
<context>
title Computerized simulation of color appearance for dichromats title We propose an algorithm that transforms a digitized color image so as to simulate for normal observers the appearance of the image for people who have dichromatic forms of color blindness The dichromat's color confusions are deduced from colorimetry and the residual hues in the transformed image are derived from the reports of unilateral dichromats described in the literature We represent color stimuli as vectors in a three dimensional LMS space and the simulation algorithm is expressed in terms of transformations of this space The algorithm replaces each stimulus by its projection onto a reduced stimulus surface This surface is defined by a neutral axis and by the LMS locations of those monochromatic stimuli that are perceived as the same hue by normal trichromats and a given type of dichromat These monochromatic stimuli were a yellow of 575 nm and a blue of 475 nm for the protan and deutan simulations and a red of 660 nm and a blue green of 485 nm for the tritan simulation The operation of the algorithm is demonstrated local with a <head>mosaic</head> local of square color patches A protanope and a deuteranope accepted the match between the original and the appropriate image confirming that the reduction is colorimetrically accurate Although we can never be certain of another's sensations the simulation provides a means of quantifying and illustrating the residual color information available to dichromats in any digitized image
</context>
</instance>
<instance id="9380067.ti.1" pmid="9380067" alias="mosaic">
<answer instance="9380067.ti.1" senseid="M1"/>
<context>
title local <head>Mosaic</head> pattern local of gliosis in the neostriatum of a North American man with craniocervical dystonia and parkinsonism title We present the case of a 51 year old patient with a 31 year history of psychiatric symptoms craniocervical dystonia bulbar dysfunction and parkinsonism His dystonic movements included blepharospasm jaw opening and lingual dystonia and spasmodic retrocollis Psychiatric symptoms included psychosis and depression with onset years before the movement disorder After his death by aspiration examination of his brain revealed abnormalities limited to the neostriatum Staining of brain sections including Holzer glial fibrillary acidic protein and immunohistochemical stain for calbindin D28k revealed the presence of a mosaic pattern of gliosis with neuronal loss sparing large neurons within this region The islands of tissue between stands of gliosis had a normal appearance This patient represents only the fourth case and first North American born with a mosaic pattern of gliosis in the neostriatum The clinical and pathologic features were similar in all four cases except that our patient was the first with prominent psychiatric symptoms and a more stable less progressive course Mosaicism has been described in the X linked Filipino disorder Lubag Occurrence in non Filipino patients such as ours suggest that either Lubag can develop in non Filipino families or that mosaicism is a nonspecific pathologic finding in some patients with idiopathic dystonia Finally our case reports the notion that craniocervical dystonia may result from neostriatal dysfunction
</context>
</instance>
<instance id="9326597.ab.5" pmid="9326597" alias="mosaic">
<answer instance="9326597.ab.5" senseid="M1"/>
<context>
title Chrysanthemum chlorotic mottle viroid unusual structural properties of a subgroup of self cleaving viroids with hammerhead ribozymes title The causal agent of chrysanthemum chlorotic mottle CChM disease has been identified cloned and sequenced It is a viroid RNA CChMVd of 398 399 nucleotides In vitro transcripts with the complete CChMVd sequence were infectious and induced the typical symptoms of the CChM disease CChMVd can form hammerhead structures in both polarity strands Plus and minus monomeric CChMVd RNAs self cleaved during in vitro transcription and after purification as predicted by these structures which are stable and most probably act as single hammerhead structures as local in peach latent <head>mosaic</head> viroid local PLMVd but not in avocado sunblotch viroid ASBVd Moreover the plus CChMVd hammerhead structure also appears to be active in vivo because the 5 terminus of the linear plus CChMVd RNA isolated from infected tissue is that predicted by the corresponding hammerhead ribozyme Both hammerhead structures of CChMVd display some peculiarities the plus self cleaving domain has an unpaired A after the conserved A9 residue and the minus one has an unusually long helix II The most stable secondary structure predicted for CChMVd is a branched conformation that does not fulfill the rod like or quasi rod like model proposed for the in vitro structure of most viroids with the exception of PLMVd whose proposed secondary structure of lowest free energy also is branched The unusual conformation of CChMVd and PLMVd is supported by their insolubility in 2 M LiCl in contrast to ASBVd and a series of representative non self cleaving viroids that are soluble under the same high salt conditions These results support the classification of self cleaving viroids into two subgroups one formed by ASBVd and the other one by PLMVd and CChMVd
</context>
</instance>
<instance id="9332653.ab.8" pmid="9332653" alias="mosaic">
<answer instance="9332653.ab.8" senseid="M2"/>
<context>
title Discriminant analysis of the Ullrich Turner syndrome neurocognitive profile title Ullrich Turner syndrome UTS or monosomy X is a genetic disorder characterized by short stature gonadal dysgenesis and a particular neurocognitive profile of normally developed language abilities particularly verbal IQ and impaired visual spatial and or visual perceptual abilities The most frequently described profile in UTS includes difficulty with tasks involving memory and attention decreased arithmetic skills and impaired visual spatial processing We used discriminant function analysis DFA to distinguish between the neurocognitive profiles of girls with UTS vs controls matched for age height IQ and socioeconomic status DFA is a statistical method for deriving a linear function that optimally weights parameters to permit sensitive and specific differentiation among groups We developed a modified discriminant function based on seven cognitive test scores that successfully discriminated between the UTS and control subjects with a sensitivity of 0 45 and a specificity of 0 97 To validate its performance we applied the discriminant function to a small group of 45 X UTS subjects n 13 and control female subjects n 25 ages 7 16 years who were not part of the previous analyses The discriminant function DF identified 54 of these 13 UTS subjects as having the UTS neurocognitive profile and 92 of the 25 control subjects as not having the profile We also compared the DF scores of UTS girls with various mosaic karyotypes and found that the group with 46 XX mosaicism had significantly higher scores i e closer to normal controls than the local other two <head>mosaic</head> groups local t 2 86 P lt 0 005 The results of this study should be useful for genetic counseling and planning educational programs for girls with UTS
</context>
</instance>
<instance id="9332669.ab.6" pmid="9332669" alias="mosaic">
<answer instance="9332669.ab.6" senseid="M2"/>
<context>
title Direct karyotyping of unstimulated newborn blood a rapid diagnostic method for the clinical management of critically ill newborns title Using spontaneously dividing nucleated erythrocytes present in newborn cord and peripheral blood we performed direct karyotype analysis on a cohort of 162 infants suspected of chromosome abnormalities A cytogenetic diagnosis was obtained in 149 cases 91 9 In all cases conventional phytohaemagglutinin PHA stimulated cultures were used for comparison Concordance between direct and stimulated karyotypes was seen in all but 5 cases In these 5 cases abnormalities were seen in the direct harvest while PHA stimulated cultures showed normal results Skin fibroblasts from 2 of these cases available for follow up showed the abnormalities local in a <head>mosaic</head> state local Our experience confirms that direct karyotyping of fetal and newborn blood is feasible fast and efficient and can provide accurate diagnosis of major chromosome abnormalities within 18 24 hours after obtaining the blood
</context>
</instance>
<instance id="9382349.ab.4" pmid="9382349" alias="mosaics">
<answer instance="9382349.ab.4" senseid="M2"/>
<context>
title Turner's syndrome Relationship between the karyotypes and malformations and associated diseases in 23 patients title In this study we have assessed the frequency of karyotypes phenotypes and some associated diseases 23 girls affected with turner's syndrome Moreover we have analyzed their relationships RESULTS The most important findings the following 1 The mean age at diagnosis was 7 37 5 65 0 16 years 2 The most frequent karyotype was monosomy 45XO which was found in fourteen patients 60 9 followed by isochromosome of the long arm of chromosome 46 XiXq in five cases 21 7 local two <head>mosaics</head> local one 45 XO 46 XiXq and one 45XO 46XX and two deletions of the short arm of chromosome X 46 XX Xp 3 The classical phenotype was found in 87 of the cases 4 Bone malformations were found in nine patients 39 1 The most frequent were short metacarpals in five cases knee anomalies Kosowicz's sign in four one Madelung deformity and one alata scapula 5 Renal malformations were detected in five patients 21 8 two rotational abnormalities two horseshoe kidneys and one double collecting system 6 Cardiovascular malformations were found in four cases 17 3 Three bicuspid aortic valves and one aortic coarctation were diagnosed 7 Otitis media was discovered in seven girls 30 5 8 Other processes found were congenital lymphedema in four cases one Klipell Trenaunay syndrome one Dandy Walker anomaly one congenital glaucoma one colesteatoma one congenital torticolis one hit luxation and one essential arterial hypertension A significant correlation was found between karyotype and phenotype such that all of the patients with monosomies and with mosaics 66 of those with X isochromosomes and one of the patients with a deletion had a classical phenotype We found no correlation between the karyotype and the different malformations and associated diseases
</context>
</instance>
<instance id="9353947.ab.1" pmid="9353947" alias="mosaic">
<answer instance="9353947.ab.1" senseid="M2"/>
<context>
title Encapsidation of potyviral RNA in various forms of transgene coat protein is not correlated with resistance in transgenic plants title Transgenic plants expressing local either bean yellow <head>mosaic</head> potyvirus local or chimeric potyvirus coat protein CP were inoculated with various potyviruses Antigen coated plate indirect enzyme linked immunosorbent assay and immunoelectron microscopy of virus purified from transgenic plants showed that progeny virions contained from lt 1 to as much as 25 transgenic CP Different levels of transcapsidation may reflect the extent of compatibility between transgene CP and the viral CP
</context>
</instance>
<instance id="9374400.ab.5" pmid="9374400" alias="mosaic">
<answer instance="9374400.ab.5" senseid="M2"/>
<context>
title Drosophila tissue polarity requires the cell autonomous activity of the fuzzy gene which encodes a novel transmembrane protein title The tissue polarity gene fuzzy fy has two roles in the development of Drosophila wing hairs One is to specify the correct orientation of the hair by limiting the site of prehair initiation to the distal vertex of the wing cell The other is to control wing cell hair number by maintaining the integrity of the cytoskeletal components that direct hair development The requirement for fy in these processes is temperature dependent as the amorphic fy phenotype is cold sensitive Analysis local of <head>mosaic</head> wings local has shown that the fy gene product functions cell autonomously We have cloned the fy transcript which encodes a novel four pass transmembrane protein that shares significant homology with proteins encoded by vertebrate cDNAs The fourth putative transmembrane domain does not appear to play a significant role in tissue polarity as it is deleted in a weak fy hypomorph Expression of the fy transcript is developmentally regulated and peaks sharply at the time of wing cell pre hair initiation
</context>
</instance>
<instance id="9411022.ti.1" pmid="9411022" alias="mosaic">
<answer instance="9411022.ti.1" senseid="M1"/>
<context>
title Amodal completion of partly occluded surfaces is local there a <head>mosaic</head> stage local title Recent investigators have proposed that amodal completion is a sequential process requiring a preliminary mosaic stage Results of 6 studies of the time course of completion processes show support for this mosaic first view with pictorial displays but not with displays involving occlusion specified by binocular parallax or when pictorial displays were observed monocularly These results still do not rule out the mosaic first view A parallel model however can account more economically for the available data
</context>
</instance>
<instance id="9411022.ab.3" pmid="9411022" alias="mosaic">
<answer instance="9411022.ab.3" senseid="M1"/>
<context>
title Amodal completion of partly occluded surfaces is there a mosaic stage title Recent investigators have proposed that amodal completion is a sequential process requiring a preliminary mosaic stage Results of 6 studies of the time course of completion processes show support for this mosaic first view with pictorial displays but not with displays involving occlusion specified by binocular parallax or when pictorial displays were observed monocularly These results still do not rule local out the <head>mosaic</head> first view local A parallel model however can account more economically for the available data
</context>
</instance>
<instance id="9356630.ti.1" pmid="9356630" alias="mosaic">
<answer instance="9356630.ti.1" senseid="M1"/>
<context>
title local <head>Mosaic</head> attenuation pattern local on thin section CT scans of the lung differentiation among infiltrative lung airway and vascular diseases as a cause title PURPOSE To determine whether infiltrative lung airway or vascular disease can be differentiated as the cause of mosaic attenuation on thin section computed tomographic CT scans of the lung MATERIALS AND METHODS Thin section CT scans were reviewed in 70 patients examined at three institutions A mosaic attenuation pattern and pathologic or clinical proof of a specific type of disease were demonstrated Causes of the mosaic pattern included infiltrative lung disease n 37 airway disease n 22 and vascular disease n 11 Thin section CT findings were assessed independently by two observers blinded to clinical findings RESULTS The type of disease was identified correctly at CT in 58 83 of 70 patients by observer 1 and 57 81 of 70 patients by observer 2 Infiltrative lung disease was diagnosed correctly by both observers in 34 92 of 37 cases Observer 1 identified 21 95 of 22 cases of airway disease and three 27 of 11 cases of vascular disease Observer 2 identified 19 86 of 22 cases of airway disease and four 36 of 11 cases of vascular disease CONCLUSION Infiltrative lung disease and airway disease may be differentiated reliably as the cause of mosaic attenuation on lung CT scans whereas vascular disease is often misinterpreted as infiltrative lung disease or airway disease
</context>
</instance>
<instance id="9356630.ab.1" pmid="9356630" alias="mosaic">
<answer instance="9356630.ab.1" senseid="M1"/>
<context>
title Mosaic attenuation pattern on thin section CT scans of the lung differentiation among infiltrative lung airway and vascular diseases as a cause title PURPOSE To determine whether infiltrative lung airway or vascular disease can be differentiated as the cause local of <head>mosaic</head> attenuation local on thin section computed tomographic CT scans of the lung MATERIALS AND METHODS Thin section CT scans were reviewed in 70 patients examined at three institutions A mosaic attenuation pattern and pathologic or clinical proof of a specific type of disease were demonstrated Causes of the mosaic pattern included infiltrative lung disease n 37 airway disease n 22 and vascular disease n 11 Thin section CT findings were assessed independently by two observers blinded to clinical findings RESULTS The type of disease was identified correctly at CT in 58 83 of 70 patients by observer 1 and 57 81 of 70 patients by observer 2 Infiltrative lung disease was diagnosed correctly by both observers in 34 92 of 37 cases Observer 1 identified 21 95 of 22 cases of airway disease and three 27 of 11 cases of vascular disease Observer 2 identified 19 86 of 22 cases of airway disease and four 36 of 11 cases of vascular disease CONCLUSION Infiltrative lung disease and airway disease may be differentiated reliably as the cause of mosaic attenuation on lung CT scans whereas vascular disease is often misinterpreted as infiltrative lung disease or airway disease
</context>
</instance>
<instance id="9356340.ab.1" pmid="9356340" alias="mosaic">
<answer instance="9356340.ab.1" senseid="M1"/>
<context>
title Capsid protein and helper component proteinase function as potyvirus cell to cell movement proteins title The role of bean common mosaic necrosis potyvirus BCMNV and local lettuce <head>mosaic</head> potyvirus local LMV proteins was investigated in terms of their capacity to function as viral movement proteins MPs Using Escherichia coli expressed proteins and microinjection techniques direct evidence was obtained that both the potyviral capsid protein CP and helper component proteinase HC Pro function in this capacity in that both proteins a trafficked from cell to cell b induced an increase in plasmodesmal size exclusion limit and c facilitated cell to cell movement of viral RNA CP and HC Pro mutants were also produced and used in microinjection experiments Mutations in the core region of the CP either impaired single and double amino acid substitution mutants or abolished triple amino acid substitution mutant cell to cell movement as did C terminal deletion mutants in HC Pro The BCMNV P1 CI NIa and NIb proteins did not exhibit viral MP properties but NIa and NIb proteins were found to accumulate within the nuclei of injected cells These results further establish the multifunctional nature of the potyvirus CP and HC Pro Copyright 1997 Academic Press
</context>
</instance>
<instance id="9302255.ab.4" pmid="9302255" alias="mosaics">
<answer instance="9302255.ab.4" senseid="M2"/>
<context>
title Epigenetic variation illustrated by DNA methylation patterns of the fragile X gene FMR1 title Genomic methylation patterns of mammals can vary among individuals and are subject to dynamic changes during development In order to gain a better understanding of this variation we have analyzed patterns of cytosine methylation within a 200 bp region at the CpG island of the human FMR1 gene from leukocyte DNA FMR1 is normally methylated during inactivation of the X chromosome in females and it is also methylated and inactivated upon expansion of CGG repeats in fragile X syndrome Patterns of methylation epigenotypes were determined by the sequencing of bisulfite treated alleles from normal males and females and alleles from a family of five brothers who are local methylation <head>mosaics</head> local and are affected to various degrees by the fragile X syndrome Our data indicate that i methylation of individual CpG cytosines is strikingly variable in hypermethylated epigenotypes obtained from a single individual suggesting that maintenance of cytosine methylation is a dynamic process ii methylation of non CpG cytosines in the region studied may occur but is rare iii mosaicism of methylation in the analyzed fragile X males is remarkably similar to that found for the active X and inactive X alleles in normal females suggesting that the methylation mosaicism of some fragile X males reflects similar on and off states of FMR1 expression that exist in normal females iv hypermethylation is slightly more pronounced on fragile X alleles than on normal inactive X alleles of females v the general dichotomy of hypo and hypermethylated alleles persisted over the 5 year period that separated samplings of the fragile X males vi methylation variability was most pronounced at a consensus binding sequence for the alpha PAL transcription factor a sequence that may play a role in regulating expression of FMR1
</context>
</instance>
<instance id="9316125.ab.1" pmid="9316125" alias="mosaic">
<answer instance="9316125.ab.1" senseid="M2"/>
<context>
title Accuracy of cytogenetic findings on chorionic villus sampling CVS diagnostic consequences of CVS mosaicism and non mosaic discrepancy in centres contributing to EUCROMIC 1986 1992 title Of 62 865 karyotyped chorionic villus CV samples that were reported to EUCROMIC 1986 1992 98 5 per cent showed either a normal karyotype true negative result 94 8 per cent of the total or a non mosaic chromosomal aberration local true positive non <head>mosaic</head> result local 3 7 per cent True fetal mosaicism was diagnosed in about 0 15 per cent of the 62 865 CV samples while confined placental mosaicism CPM occurred in 1 0 per cent False positive non mosaic aberrations were observed in 0 15 per cent and false negative CVS chorionic villus sampling results in only 0 03 per cent The remaining 0 15 per cent of the CVS results were unclassifiable These figures determined a sensitivity of CVS for prenatal detection of chromosome aberrations of 98 9 99 6 per cent 95 per cent confidence intervals a specificity of 98 5 98 8 per cent a positive predictive value of 72 6 78 3 per cent and a negative predictive value of 99 95 99 98 per cent False positive non mosaic aberrations that could not from the outset be suspected of being confined to the placenta were very rare 0 07 per cent of CV samples They most often involved non mosaic monosomy X and trisomy 18 encountered after direct preparation alone False negative CVS results were extremely rare 0 03 per cent and occurred with only one exception after direct preparation alone Thirteen of the 19 false negative CVS diagnoses were from pregnancies at a particularly high risk for fetal chromosomal aberration Seventy five per cent of the pregnancies with CVS mosaicism or non mosaic discrepancy and known outcome continued to livebirth When CVS mosaicism was encountered the definitive prenatal cytogenetic diagnosis was most often obtained through subsequent amniocentesis However the use of amniocentesis and the frequency of pregnancy termination depended on the type of chromosomal aberration involved We conclude that CVS is an accurate method for prenatal chromosome analysis In pregnancies at high risk for fetal chromosomal abnormality we recommend however not relying solely on a normal karyotype obtained after direct preparation alone
</context>
</instance>
<instance id="9316125.ab.6" pmid="9316125" alias="mosaic">
<answer instance="9316125.ab.6" senseid="M2"/>
<context>
title Accuracy of cytogenetic findings on chorionic villus sampling CVS diagnostic consequences of CVS mosaicism and non mosaic discrepancy in centres contributing to EUCROMIC 1986 1992 title Of 62 865 karyotyped chorionic villus CV samples that were reported to EUCROMIC 1986 1992 98 5 per cent showed either a normal karyotype true negative result 94 8 per cent of the total or a non mosaic chromosomal aberration true positive non mosaic result 3 7 per cent True fetal mosaicism was diagnosed in about 0 15 per cent of the 62 865 CV samples while confined placental mosaicism CPM occurred in 1 0 per cent False positive non mosaic aberrations were observed in 0 15 per cent and false negative CVS chorionic villus sampling results in only 0 03 per cent The remaining 0 15 per cent of the CVS results were unclassifiable These figures determined a sensitivity of CVS for prenatal detection of chromosome aberrations of 98 9 99 6 per cent 95 per cent confidence intervals a specificity of 98 5 98 8 per cent a positive predictive value of 72 6 78 3 per cent and a negative predictive value of 99 95 99 98 per cent local False positive non <head>mosaic</head> aberrations local that could not from the outset be suspected of being confined to the placenta were very rare 0 07 per cent of CV samples They most often involved non mosaic monosomy X and trisomy 18 encountered after direct preparation alone False negative CVS results were extremely rare 0 03 per cent and occurred with only one exception after direct preparation alone Thirteen of the 19 false negative CVS diagnoses were from pregnancies at a particularly high risk for fetal chromosomal aberration Seventy five per cent of the pregnancies with CVS mosaicism or non mosaic discrepancy and known outcome continued to livebirth When CVS mosaicism was encountered the definitive prenatal cytogenetic diagnosis was most often obtained through subsequent amniocentesis However the use of amniocentesis and the frequency of pregnancy termination depended on the type of chromosomal aberration involved We conclude that CVS is an accurate method for prenatal chromosome analysis In pregnancies at high risk for fetal chromosomal abnormality we recommend however not relying solely on a normal karyotype obtained after direct preparation alone
</context>
</instance>
<instance id="9364720.ab.11" pmid="9364720" alias="mosaic">
<answer instance="9364720.ab.11" senseid="M1"/>
<context>
title Large retinal ganglion cells in the pipid frog Xenopus laevis form independent regular mosaics resembling those of teleost fishes title Population based studies of retinal neurons have helped to reveal their natural types in mammals and teleost fishes In this the first such study in a frog labeled ganglion cells of the mesobatrachian Xenopus laevis were examined in flatmounts Cells with large somata and thick dendrites could be divided into three mosaic forming types each with its own characteristic stratification pattern These are named alpha a alpha ab and alpha c following a scheme recently used for teleosts Cells of the alpha a mosaic approximately 0 4 of all ganglion cells had very large somata and trees arborizing diffusely within sublamina a the most sclerad Their distal dendrites were sparsely branched but achieved consistent coverage by intersecting those of their neighbors Displaced and orthotopic cells belonged to the same mosaic as did cells with symmetric and asymmetric trees Cells of the alpha ab mosaic approximately 1 2 had large somata somewhat smaller trees that appeared bistratified at low magnification and dendrites that branched extensively Their distal dendrites arborized throughout sublamina b and the vitread part of a tessellating with their neighbors All were orthotopic most were symmetric Cells local of the alpha c <head>mosaic</head> local approximately 0 5 had large somata and very large sparse flat overlapping trees predominantly in sublamina c All were orthotopic some were asymmetric Nearest neighbor analyses and spatial correlograms confirmed that each mosaic was regular and independent and that spacings were reduced in juvenile frogs Densities proportions sizes and mosaic statistics are tabulated for all three types which are compared with types defined previously by size and symmetry in Xenopus and potentially homologous mosaic forming types in teleosts Our results reveal strong organizational similarities between the large ganglion cells of teleosts and frogs They also demonstrate the value of introducing mosaic analysis at an early stage to help identify characters that are useful markers for natural types and that distinguish between within type and between type variation in neuronal populations
</context>
</instance>
<instance id="9364720.ab.13" pmid="9364720" alias="mosaic">
<answer instance="9364720.ab.13" senseid="M1"/>
<context>
title Large retinal ganglion cells in the pipid frog Xenopus laevis form independent regular mosaics resembling those of teleost fishes title Population based studies of retinal neurons have helped to reveal their natural types in mammals and teleost fishes In this the first such study in a frog labeled ganglion cells of the mesobatrachian Xenopus laevis were examined in flatmounts Cells with large somata and thick dendrites could be divided into three mosaic forming types each with its own characteristic stratification pattern These are named alpha a alpha ab and alpha c following a scheme recently used for teleosts Cells of the alpha a mosaic approximately 0 4 of all ganglion cells had very large somata and trees arborizing diffusely within sublamina a the most sclerad Their distal dendrites were sparsely branched but achieved consistent coverage by intersecting those of their neighbors Displaced and orthotopic cells belonged to the same mosaic as did cells with symmetric and asymmetric trees Cells of the alpha ab mosaic approximately 1 2 had large somata somewhat smaller trees that appeared bistratified at low magnification and dendrites that branched extensively Their distal dendrites arborized throughout sublamina b and the vitread part of a tessellating with their neighbors All were orthotopic most were symmetric Cells of the alpha c mosaic approximately 0 5 had large somata and very large sparse flat overlapping trees predominantly in sublamina c All were orthotopic some were asymmetric Nearest neighbor analyses and spatial correlograms confirmed local that each <head>mosaic</head> local was regular and independent and that spacings were reduced in juvenile frogs Densities proportions sizes and mosaic statistics are tabulated for all three types which are compared with types defined previously by size and symmetry in Xenopus and potentially homologous mosaic forming types in teleosts Our results reveal strong organizational similarities between the large ganglion cells of teleosts and frogs They also demonstrate the value of introducing mosaic analysis at an early stage to help identify characters that are useful markers for natural types and that distinguish between within type and between type variation in neuronal populations
</context>
</instance>
<instance id="9407504.ab.6" pmid="9407504" alias="mosaic">
<answer instance="9407504.ab.6" senseid="M1"/>
<context>
title Renal osmotic stress induced cotransporter expression in the newborn adult and post ischemic rat kidney title The renal osmotic stress induced cotransporter ROSIT a new putative member of a family of organic solute transporters is highly expressed in the kidney Our in situ hybridization data now reveal that large amounts of ROSIT mRNA can be found in the S3 segment of the proximal tubule In the developing kidney ROSIT mRNA is expressed after the S shaped body stage Because the S3 segment is the major site of damage in the post ischemic kidney we evaluated alterations in ROSIT mRNA expression after ischemic acute tubular necrosis Renal osmotic stress induced cotransporter mRNA levels were already decreased eight hours post ischemia At seven days post ischemia ROSIT mRNA reappeared local in a <head>mosaic</head> pattern local in the regenerating S3 segment being fully expressed three weeks after the insult except for focal areas The exact localization of this putative osmolyte transporter in the kidney together with that of other known osmolyte transporter will contribute to a better understanding of the mechanism of medullary osmolyte accumulation and its vectorial transport
</context>
</instance>
<instance id="9400617.ti.3" pmid="9400617" alias="mosaic">
<answer instance="9400617.ti.3" senseid="M1"/>
<context>
title Molecular studies on bromovirus capsid protein IV Coat protein exchanges local between brome <head>mosaic</head> local and cowpea chlorotic mottle viruses exhibit neutral effects in heterologous hosts title Two members of the bromovirus group brome mosaic virus BMV and cowpea chlorotic mottle virus CCMV selectively infect barley and cowpea respectively and also differ in their ability to systemically infect a common permissive host Chenopodium quinoa CCMV is confined to inoculated leaves of C quinoa whereas BMV causes rapid systemic mottling To examine whether host specific determinants for systemic movement of BMV and CCMV in each of these hosts are localized in the coat protein CP sequences encoding this gene were exchanged between biologically active clones of BMV RNA3 B3 and CCMV RNA3 C3 to create chimera expressing heterologous CP genes B3 CCP and C3 BCP Inoculation of each chimera with its respective wild type wt RNAs 1 and 2 to barley or cowpea or C quinoa plants resulted in symptom phenotype and long distance movement characteristics similar to those of the parental virus donating RNAs 1 and 2 These observations suggest that neither BMV CP nor CCMV CP has host specific determinants for long distance movement Inoculation of additional recombinant viruses constructed by reassorting wt genomic RNAs 1 and 2 of BMV and CCMV with either heterologous wt RNA3 i e B1 B2 C3 and C1 C2 B3 or heterologous chimeric RNA3 i e B1 B2 C3 BCP and C1 C2 B3 CCP to susceptible hosts resulted only in localized infections The significance of these observations in relation to bromovirus movement is discussed
</context>
</instance>
<instance id="9401997.ab.5" pmid="9401997" alias="mosaic">
<answer instance="9401997.ab.5" senseid="M1"/>
<context>
title Color Doppler ultrasonography in the diagnosis of portal vein invasion in patients with pancreatic cancer title We retrospectively evaluated the diagnostic usefulness of color Doppler ultrasonography for detecting portal vein invasion in 21 patients with pancreatic cancer who underwent surgical exploration 14 resection seven inspection Real time gray scale ultrasonography color Doppler ultrasonography computed tomography and angiography were performed in all patients to evaluate portal vein invasion and the images were compared with the histopathologic or surgical inspection findings On comparison between gray scale ultrasonographic and color Doppler ultrasonographic images the tumor vessel relations were visualized more clearly on color Doppler ultrasonography than on gray scale ultrasonography in 14 22 2 of 63 vessels The sensitivity of color Doppler ultrasonography computed tomography and angiography for diagnosing portal invasion was 73 7 73 7 and 73 6 and the specificity was 95 1 95 5 and 90 9 respectively the overall accuracy was 84 1 88 9 and 85 7 respectively local A <head>mosaic</head> signal pattern local was observed in 12 vessels and showed an accuracy of 86 4 for diagnosing portal vein invasion In conclusion compared with gray scale ultrasonography color Doppler ultrasonography provided improved images of the tumor and portal vein Furthermore the accuracy of color Doppler evaluation of portal vein invasion appears to be equal to that of computed tomography and angiography Therefore color Doppler ultrasonography may play an important role as an initial examination for evaluating portal vein invasion
</context>
</instance>
<instance id="9420534.ab.1" pmid="9420534" alias="mosaic">
<answer instance="9420534.ab.1" senseid="M1"/>
<context>
title A rule concerning the segmental manifestation of autosomal dominant skin disorders Review of clinical examples providing evidence for dichotomous types of severity title It is well known that autosomal dominant skin disorders may sometimes become manifest local in a <head>mosaic</head> form local involving the body in a linear patchy or otherwise circumscribed arrangement Such cases can be explained by an early postzygotic mutation The segmental lesions usually show the same degree of severity as that found in the corresponding nonmosaic trait Occasionally however the intensity of involvement observed in the circumscribed area is far more pronounced This phenomenon can be explained by delineating a rule of dichotomous segmental manifestations reflecting different states of zygosity Heterozygosity for the mutation results in severity corresponding to that in the nonsegmental phenotype loss of heterozygosity for the same allele causes markedly more severe involvement
</context>
</instance>
<instance id="9420264.ab.13" pmid="9420264" alias="mosaic">
<answer instance="9420264.ab.13" senseid="M2"/>
<context>
title Natural infection of a household pet red capped mangabey Cercocebus torquatus torquatus with a new simian immunodeficiency virus title A seroprevalence survey was conducted for simian immunodeficiency virus SIV antibody in household pet monkeys in Gabon Twenty nine monkeys representing seven species were analyzed By using human immunodeficiency virus type 2 HIV 2 SIVsm SIVmnd and SIVagm antigens one red capped mangabey RCM Cercocebus torquatus torquatus was identified as harboring SIV cross reactive antibodies A virus isolate termed SIVrcm was subsequently established from this seropositive RCM by cocultivation of its peripheral blood mononuclear cells PBMC with PBMC from seronegative humans or RCMs SIVrcm was also isolated by cocultivation of CD8 depleted RCM PBMC with Molt 4 clone 8 cells but not with CEMx174 cells The lack of growth in CEMx174 cells distinguished this new SIV from all previously reported sooty mangabey derived viruses SIVsm which grow well in this cell line SIVrcm was also successfully transmitted cell free to human and rhesus PBMC as well as to Molt 4 clone 8 cells To determine the evolutionary origins of this newly identified virus subgenomic pol 475 bp and gag 954 bp gene fragments were amplified from infected cell culture DNA and sequenced The position of SIVrcm relative to those of members of the other primate lentivirus lineages was then examined in evolutionary trees constructed from deduced protein sequences This analysis revealed significantly discordant phylogenetic positions of SIVrcm in the two genomic regions In trees derived from partial gag sequences SIVrcm clustered independently from all other HIV and SIV strains consistent with a new primate lentivirus lineage However in trees derived from pol sequences SIVrcm grouped with the HIV 1 SIVcpz lineage These findings suggest that the SIVrcm genome is local <head>mosaic</head> local and possibly is the result of a recombination event involving divergent lentiviruses in the distant past Further analysis of this and other SIVrcm isolates may shed new light on the origin of HIV 1
</context>
</instance>
<instance id="9375928.ab.8" pmid="9375928" alias="mosaic">
<answer instance="9375928.ab.8" senseid="M2"/>
<context>
title Do NF1 gene deletions result in a characteristic phenotype title Neurofibromatosis 1 NF1 is an autosomal dominant disorder with marked variability of expression Analysis of the NF1 gene NF1 has detected a variety of mutations without any clear correlation with phenotype However deletions which remove all of NF1 have been reported in a small number of patients who have minor facial abnormalities mental retardation learning disabilities and early or excessive burden of cutaneous or plexiform neurofibromas The purpose of this study was to determine whether these phenotypic traits are associated with whole gene deletions Out of 406 of our NF1 patients 70 patients had manifestations previously associated with gene deletions Thirty five of these patients from 26 families were available for study By fluorescence in situ hybridization FISH analysis 4 were found to have deletions of the entire gene including 2 sporadic cases 1 familial case and 1 case where family history could not be verified In addition the mother of the familial case was found to be local <head>mosaic</head> local for the deletion Our results suggest that although large NF1 deletions occur with relatively high frequency in patients with certain findings the presence of a deletion cannot be predicted solely on the basis of clinical phenotype
</context>
</instance>
<instance id="9391890.ab.6" pmid="9391890" alias="mosaic">
<answer instance="9391890.ab.6" senseid="M2"/>
<context>
title Misleading linkage results in an NF2 presymptomatic test owing to mosaicism title A two generation family with neurofibromatosis type 2 NF2 is presented in which a family member requested presymptomatic molecular diagnosis Since the consultand's mother had clinically well defined NF2 he was quoted to be at 50 risk of carrying an NF2 mutation Mutation screening in the mother did not show the causative mutation and consequently presymptomatic testing was based on linkage analysis This showed that the consultand carried the high risk chromosome 22 Subsequent mutation screening of his clinically affected sister showed a nonsense mutation R262X in exon 8 of the NF2 gene The mother turned out to be local a <head>mosaic</head> local for R262X the son had not inherited the mutation Mosaicism may be a common mechanism in NF2 and other autosomal dominant diseases with a high new mutation rate This may be one explanation for a difference in expression in generations Caution has to be exercised when giving results based on linkage tests which imply a very high risk to people in the second generation
</context>
</instance>
<instance id="9397451.ab.9" pmid="9397451" alias="mosaic">
<answer instance="9397451.ab.9" senseid="M1"/>
<context>
title Pulmonary complications after bone marrow transplantation high resolution CT and pathologic findings title A wide variety of pulmonary complications occur in bone marrow transplant BMT recipients and are a major cause of morbidity and death High resolution computed tomography CT is excellent in the detection of pulmonary abnormalities but these findings are generally nonspecific However the different complications which reflect the immunologic status of the patients occur in three phases This pattern can be used to interpret CT scans The neutropenic phase up to 3 weeks after BMT is characterized by fungal infections notably angioinvasive aspergillosis alveolar hemorrhage pulmonary edema and drug reactions At CT angioinvasive aspergillosis appears as a nodule surrounded by a halo of ground glass attenuation alveolar hemorrhage and drug reactions as bilateral areas of ground glass attenuation or consolidation and pulmonary edema as prominent pulmonary vessels interlobar septal thickening ground glass attenuation and pleural effusions The second phase 3 weeks to 100 days after BMT is dominated by cytomegalovirus pneumonia which appears as multiple small nodules with associated areas of consolidation or ground glass attenuation and Pneumocystis carinii pneumonia which appears predominantly as ground glass attenuation The late phase more than 100 days after BMT is characterized by bronchiolitis obliterans bronchiolitis obliterans with organizing pneumonia BOOP and chronic graft versus host disease In bronchiolitis obliterans CT reveals bronchial dilatation and local a <head>mosaic</head> pattern local of attenuation in BOOP CT findings usually consist of patchy consolidation or ground glass attenuation If CT findings are considered in relation to the time elapsed after BMT diagnostic options can be narrowed sufficiently to enable accurate diagnosis
</context>
</instance>
<instance id="9438219.ab.7" pmid="9438219" alias="mosaic">
<answer instance="9438219.ab.7" senseid="M2"/>
<context>
title Discrepancies in cytogenetic findings in chorionic villi title We present a database and a review of published literature on discrepancies in chorionic villus CV diagnostic findings The review includes 457 cases of discrepancies between CV findings direct culture or both and the fetus One hundred and one cases reported normal by CV direct harvest included 30 with abnormal or mosaic abnormal fetal karyotype 30 false negatives The corresponding number of false negatives for CV culture was only 4 cases out of 133 3 Assuming no bias in reporting cases based on site of discrepancy assumption may not hold these data imply that the probability of false negative findings is 10 fold higher by CV direct method compared to CV culture method We also reviewed recent studies reporting on large series of CV diagnosis This review revealed that the reported overall frequencies of discrepancies as a percentage of abnormal and local <head>mosaic</head> abnormal CV results local ranged from 11 to 63 a mean of 37 These data together with recent reports of survival of embryos with reported abnormal karyotypes because of confined placental mosaicism CPM raise several questions pertaining to the predictive value of CV sampling and the origin of the discrepancies in the fetal placental unit Caution is recommended in counseling patients undergoing CV sampling to provide appropriate follow up studies in cases of possible discrepancies
</context>
</instance>
<instance id="9430209.ti.1" pmid="9430209" alias="mosaic">
<answer instance="9430209.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> isochromosome 20q local and normal outcome a new case ascertained by fluorescence in situ hybridization and a review of the literature title We describe a new case of mosaic isochromosome 20q revealed by amniocentesis A 46 XX 46 XX i 20q chromosomic complement was indirectly confirmed by fluorescent in situ hybridization Since control chromosome analysis performed on cord blood showed a normal karyotype pregnancy was continued and resulted in the birth of a normal female infant
</context>
</instance>
<instance id="9458088.ab.3" pmid="9458088" alias="mosaic">
<answer instance="9458088.ab.3" senseid="M2"/>
<context>
title A lack of neuroblastoma in Down syndrome a study from 11 European countries title An epidemiological investigation in 11 European countries comprising a total childhood population of 54 1 million children and using 8 separate data sources was conducted to evaluate the occurrence of neuroblastoma in Down syndrome DS No cases of DS were detected among 6724 infants and children with neuroblastoma although more than five were expected This highly significant result P 0 0045 according to the Poisson test is consistent with data in the literature which contains only two poorly detailed cases in epidemiological studies and one ganglioneuroma local in a DS <head>mosaic</head> patient local Like other tumors such as leukemias testicular germ cell tumors and lymphomas are in excess in DS patients the lack of neuroblastomas does not reflect a general decreased incidence of cancer but rather a specific underrepresentation of this precise tumor S 100 b protein the gene for which maps to the long arm of chromosome 21 a is overproduced in DS patients b produces growth inhibition and differentiation of neural cells in vitro c is abundant in good prognosis neuroblastomas and d has been shown to induce growth inhibition and differentiation and cell death in several human and murine neuroblastoma cell lines and could be responsible for this variation Additional epidemiological and experimental studies are warranted to confirm our interpretation of these data
</context>
</instance>
<instance id="9450335.ab.1" pmid="9450335" alias="mosaic">
<answer instance="9450335.ab.1" senseid="M1"/>
<context>
title Potyvirus genome linked protein VPg determines pea seed borne mosaic virus pathotype specific virulence in Pisum sativum title The mechanism of Pisum sativum pathotype specific resistance local to pea seed borne <head>mosaic</head> potyvirus local PSbMV was investigated and the coding region determinant of PSbMV virulence was defined Homozygous recessive sbm 1 peas are unable to support replication of PSbMV pathotype 1 P 1 whereas biochemically and serologically related pathotype 4 P 4 is fully infectious in the sbm 1 sbm 1 genotype We were unable to detect viral coat protein or RNA with double antibody sandwich enzyme linked immunosorbent assay and reverse transcription polymerase chain reaction in sbm 1 sbm 1 P 1 inoculated protoplasts and plants Lack of viral coat protein or RNA in P 1 transfected sbm 1 sbm 1 protoplasts suggests that sbm 1 resistance is occurring at the cellular level and that inhibition of cell to cell virus movement is not the operating form of resistance In addition because virus products were not detected at any time post inoculation resistance must either be constitutive or expressed very early in the virus infection process P 1 resistant peas challenged with full length infectious P 1 P 4 recombinant clones demonstrated that a specific P 4 coding region the 21 kDa genome linked protein VPg was capable of overcoming sbm 1 resistance whereas clones containing the P 1 VPg coding region were noninfectious to sbm 1 sbm 1 peas VPg is believed to be involved in potyvirus replication and its identification as the PSbMV determinant of infectivity in sbm 1 sbm 1 peas is consistent with disruption of an early P 1 replication event
</context>
</instance>
<instance id="9498876.ab.4" pmid="9498876" alias="mosaic">
<answer instance="9498876.ab.4" senseid="M1"/>
<context>
title Pulmonary edema following intravenous injection of nonionic low osmolar contrast medium appearance on HRCT A case report title Pulmonary edema following i v contrast medium injection is a rare adverse reaction We report on a 71 year old woman who developed pulmonary edema following i v injection of iohexol during spiral CT of the thorax She developed shortness of breath during the injection and the first radiographic signs of pulmonary edema were visible on CT images 25 s after the onset of injection On HRCT images 15 min later marked edema was demonstrated in both lungs local in a <head>mosaic</head> pattern local of distribution After appropriate therapy the patient recovered without sequelae A repeat CT 6 days later showed complete normalization
</context>
</instance>
<instance id="9447692.ab.8" pmid="9447692" alias="mosaic">
<answer instance="9447692.ab.8" senseid="M1"/>
<context>
title Large retinal ganglion cells that form independent regular mosaics in the ranid frogs Rana esculenta and Rana pipiens title Population based studies of ganglion cells in retinal flatmounts have helped to reveal some of their natural types in mammals teleost fish and recently the aquatic mesobatrachian frog Xenopus laevis Here ganglion cells of the semiterrestrial neobatrachian frogs Rana esculenta and Rana pipiens have been studied similarly Ganglion cells with large somata and thick dendrites could again be divided into three mosaic forming types with distinctive stratification patterns Cell dimensions correlated inversely with density being smallest in the visual streak Cells of the alpha a mosaic lt 0 2 of all ganglion cells had the largest somata at each location often displaced and their trees were confined to one shallow plane within sublamina a of the inner plexiform layer In regions of high regularity many trees were symmetric Elsewhere asymmetric irregular trees predominated and their dendrites although sparsely branched achieved consistent coverage by intersecting in complex ways Cells local of the alpha ab <head>mosaic</head> local were more numerous approximately 0 7 and had large somata smaller but still large trees and dendrites that branched extensively in two separate shallow planes in sublaminae a and b The subtrees did not always match in symmetry and each subtree tessellated independently with its neighbors Cells of the alpha c mosaic approximately 0 1 had large orthotopic somata and large sparse trees often asymmetric and irregular close to the ganglion cell layer Nearest neighbor analyses and spatial correlograms confirmed that each mosaic was regular and independent Densities proportions sizes and mosaic statistics are tabulated for all three types which are compared with types defined by size and symmetry in R pipiens by discriminant analysis in R temporaria by physiological response in both and by mosaic analysis in Xenopus and several teleosts The variable stratification of these otherwise similar types across species is consistent with other evidence that stratification may be determined in part by functional interactions
</context>
</instance>
<instance id="9447692.ab.11" pmid="9447692" alias="mosaic">
<answer instance="9447692.ab.11" senseid="M1"/>
<context>
title Large retinal ganglion cells that form independent regular mosaics in the ranid frogs Rana esculenta and Rana pipiens title Population based studies of ganglion cells in retinal flatmounts have helped to reveal some of their natural types in mammals teleost fish and recently the aquatic mesobatrachian frog Xenopus laevis Here ganglion cells of the semiterrestrial neobatrachian frogs Rana esculenta and Rana pipiens have been studied similarly Ganglion cells with large somata and thick dendrites could again be divided into three mosaic forming types with distinctive stratification patterns Cell dimensions correlated inversely with density being smallest in the visual streak Cells of the alpha a mosaic lt 0 2 of all ganglion cells had the largest somata at each location often displaced and their trees were confined to one shallow plane within sublamina a of the inner plexiform layer In regions of high regularity many trees were symmetric Elsewhere asymmetric irregular trees predominated and their dendrites although sparsely branched achieved consistent coverage by intersecting in complex ways Cells of the alpha ab mosaic were more numerous approximately 0 7 and had large somata smaller but still large trees and dendrites that branched extensively in two separate shallow planes in sublaminae a and b The subtrees did not always match in symmetry and each subtree tessellated independently with its neighbors Cells of the alpha c mosaic approximately 0 1 had large orthotopic somata and large sparse trees often asymmetric and irregular close to the ganglion cell layer Nearest neighbor analyses and spatial correlograms confirmed local that each <head>mosaic</head> local was regular and independent Densities proportions sizes and mosaic statistics are tabulated for all three types which are compared with types defined by size and symmetry in R pipiens by discriminant analysis in R temporaria by physiological response in both and by mosaic analysis in Xenopus and several teleosts The variable stratification of these otherwise similar types across species is consistent with other evidence that stratification may be determined in part by functional interactions
</context>
</instance>
<instance id="9498953.ab.6" pmid="9498953" alias="mosaic">
<answer instance="9498953.ab.6" senseid="M1"/>
<context>
title Bronchiolitis obliterans after lung transplantation detection using expiratory HRCT title OBJECTIVE The objective of this study was to determine if air trapping as detected on expiratory high resolution CT HRCT is useful as an indicator of bronchiolitis obliterans BO in lung transplant recipients MATERIALS and METHODS Corresponding inspiratory and expiratory HRCT images at five different levels and spirometry were obtained in 21 lung transplant recipients Eleven patients had BO proved by transbronchial biopsy specimens the remaining 10 patients had no pathologic or functional evidence of airways disease Two blinded observers assessed the inspiratory images for the presence of bronchiectasis and mosaic pattern of lung attenuation and the expiratory images for presence and extent of air trapping Statistical comparison of the frequency of HRCT findings between patients with and without BO was performed using Fisher's Exact Test RESULTS On inspiratory images bronchiectasis and local <head>mosaic</head> pattern local of lung attenuation were present in 4 36 and 7 64 of 11 patients with BO and 2 20 and 1 10 of 10 patients without BO p 0 05 and p lt 0 05 respectively The sensitivity specificity and accuracy of bronchiectasis and mosaic pattern for BO were 36 80 and 57 and 64 90 and 70 respectively On expiratory images air trapping was found in 10 of 11 91 patients with BO compared to 2 of 10 20 patients without BO p lt 0 002 Air trapping was found to have a sensitivity of 91 specificity of 80 and accuracy of 86 for BO Air trapping was identified in one patient with BO who had normal results of baseline spirometric function tests CONCLUSION Air trapping as detected on expiratory HRCT was the most sensitive and accurate radiologic indicator of BO in the lung transplant population
</context>
</instance>
<instance id="9486108.ab.7" pmid="9486108" alias="mosaic">
<answer instance="9486108.ab.7" senseid="M1"/>
<context>
title Natural antibodies that react with V region peptide epitopes of DNA binding antibodies are made by mice with systemic lupus erythematosus as disease develops title Cross reactive idiotypes CRI have been detected on anti DNA autoantibodies associated with lesions typical of systemic lupus erythematosus In order to analyse the antigenic make up of idiotypes on anti DNA monoclonal antibodies mAb V 88 IgG1 kappa and F 423 IgG3 kappa derived respectively from an adult NZB x NZW F1 and a fetal MRL Mp lpr lpr mouse a set of overlapping hexapeptides representing the VH and VL regions of mAb V 88 and F 423 were synthesized and reacted with a range of sera in pepscan enzyme linked immunosorbent assays ELISA taken from normal and lupus mouse strains Serum pools were collected both from normal BALB c and lupus MRL Mp lpr lpr and NZB x NZW F1 mice at 10 20 and 30 weeks of age and analysed for the presence of spontaneously produced anti V region peptide IgM and IgG antibodies IgM antibodies from both the lupus mice reacted with the same V region epitopes and although some epitopes mapped to similar locations in the two mAb the maps for V 88 and F 423 were not identical In MRL Mp lpr lpr mice as lupus disease progressed there was a switch from IgM antibodies to IgG anti peptide antibodies whose specificity for the peptide antigens coincided with but was better defined than that of the IgM antibodies The identified idiotopes were located in both complementary determining regions CDR and framework region FR regions indicating that some contribute to CRI shared by other related antibodies while others were unique to either mAb V 88 or F 423 In conclusion we have dissected and identified local a <head>mosaic</head> local of antibody V region idiotopes that contribute to the idiotype of an anti DNA autoantibody and against which autoantibodies are made naturally in lupus disease
</context>
</instance>
<instance id="9483638.ab.3" pmid="9483638" alias="mosaic">
<answer instance="9483638.ab.3" senseid="M2"/>
<context>
title Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy title In most reported cases of uniparental disomy UPD associated with confined placental mosaicism CPM a high level of mosaicism or a full trisomy was found in chorionic villi At the time that we started our investigations it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism During a 4 year period a follow up amniocentesis was performed in all cases local of <head>mosaic</head> local or non mosaic trisomy detected in chorionic villus CV semi direct preparations and suspected to be confined to the placenta We performed fluorescent in situ hybridization FISH on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases Normal biparental chromosome contributions were found in 22 cases In one case we detected a maternal heterodisomy for chromosome 16 UPD appeared to be a rare phenomenon in the cases of CPM type I and or type III that we encountered in 3958 consecutively investigated CV samples and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM
</context>
</instance>
<instance id="9399891.ab.5" pmid="9399891" alias="mosaics">
<answer instance="9399891.ab.5" senseid="M2"/>
<context>
title Molecular analysis of the NF2 tumor suppressor gene in schwannomatosis title Patients with multiple schwannomas without vestibular schwannomas have been postulated to compose a distinct subclass of neurofibromatosis NF termed schwannomatosis To compare the molecular genetic basis of schwannomatosis with NF2 we examined the NF2 locus in 20 unrelated schwannomatosis patients and their affected relatives Tumors from these patients frequently harbored typical truncating mutations of the NF2 gene and loss of heterozygosity of the surrounding region of chromosome 22 Surprisingly unlike patients with NF2 no heterozygous NF2 gene changes were seen in normal tissues Examination of multiple tumors from the same patient revealed that some schwannomatosis patients are local somatic <head>mosaics</head> local for NF2 gene changes By contrast other individuals particularly those with a positive family history appear to have an inherited predisposition to formation of tumors that carry somatic alterations of the NF2 gene Further work is needed to define the pathogenetics of this unusual disease mechanism
</context>
</instance>
<instance id="9475603.ab.8" pmid="9475603" alias="mosaic">
<answer instance="9475603.ab.8" senseid="M2"/>
<context>
title Molecular characterization of FRAXE positive subjects with mental impairement in two unrelated Italian families title The FRAXE fragile site 600 Kb distal to the more common FRAXA has been reported to be expressed in subjects with mild nonsyndromal mental retardation Amplification of more than 200 GCC repeats associated with methylation of the adjacent CpG island at Xq28 is responsible for FRAXE fragility We describe two unrelated mentally retarded males identified during a screening for fragile X syndrome Both index cases underwent FRAXE molecular analysis following cytogenetic expression of the fra X site and negative FRAXA test In family 1 we were able to investigate other 13 subjects over three generations identifying two additional FRAXE positive males one with a fully mutated allele and one with a mosaic genotype Detailed evaluation of physical traits and psychometric tests was performed on three retarded males from family 1 and the propositus from family 2 All of them were found to lack a definite phenotype and showed different degrees of mental retardation Slight mental retardation was evident local in the <head>mosaic</head> male local suggesting that methylation might be an important determinant of mental impairment
</context>
</instance>
<instance id="9482654.ab.6" pmid="9482654" alias="mosaic">
<answer instance="9482654.ab.6" senseid="M2"/>
<context>
title Origin and mechanism of formation of 45 X 47 XX 21 mosaicism in a fetus title Chromosome analysis of amniotic fluid cells from a 17 week old fetus with a nuchal cystic hygroma showed a 45 X 47 XX 21 karyotype Analyses of cord blood lymphocytes skin fibroblasts amniotic membrane and chorionic villi demonstrated both cell lines in various proportions We studied the origin and mechanism of formation of the double mosaic aneuploid using Q banded chromosomal heteromorphisms and one RFLP two VNTRs one tetranucleotide repeat 28 CA repeat markers mapped to every member of chromosomes The heteromorphic markers examined showed no discordant patterns in parent to child transmission or between the two cell lines except for those in chromosomes 21 and X Fetal DNA was extracted from its established monoclonal fibroblast cell lines with 45 X or 47 XX 21 karyotypes Genotyping with the DNA markers showed that each cell line was identical at every locus except for chromosome 21 or X loci indicating that the fetus was not a chimera local but a <head>mosaic</head> local The 21 trisomic cells had one paternal allele and two maternal heterozygous alleles at the D21S270 locus and the 45 X 21 disomic cells had two biparental alleles Alleles at two X chromosomal loci DXS991 and DXS8057 were biparental in the 47 XX 21 cells whereas only the paternal allele was retained in the 45 X cells Based on these findings we concluded that the fetus started as a 47 XX 21 zygote that had resulted from nondisjunction at the maternal first meiotic division and that one each of the maternally derived chromosomes 21 and X was lost during an early mitotic division leading to the mosaicism
</context>
</instance>
<instance id="9481860.ab.3" pmid="9481860" alias="mosaic">
<answer instance="9481860.ab.3" senseid="M2"/>
<context>
title Flow cytometry immunophenotyping and polymerase chain reaction site specific primers genotyping for HPA 1 alloantigens in an Italian blood donor population title BACKGROUND AND OBJECTIVES There is increasing interest in the development of rapid and reliable techniques for human platelet alloantigen HPA typing This study investigates the reliability of flow cytometry for large scale immunophenotyping of platelet alloantigens MATERIALS AND METHODS We used flow cytometry and polymerase chain reaction site specific primer PCR SSP for the characterization of the human platelet antigen 1 HPA 1 local <head>mosaic</head> local in blood donors RESULTS By using specific alloantisera and immunofluorescence labelling 9 2 6 out of 351 samples were HPA 1a negative To confirm this antigenic phenotype all of the latter samples were submitted to PCR SSP analysis showing an HPA1 b b genomic pattern In HPA 1a positive donors flow cytometry was unable to distinguish HPA 1a b heterozygous from HPA 1a a homozygous subjects who were clearly identified by genotyping CONCLUSIONS Flow cytometry is a valuable tool for large scale screening to identify HPA 1a negative persons whereas genotyping is the assay of choice for zygosity testing antenatal diagnosis and for thrombocytopenic alloimmunized patients
</context>
</instance>
<instance id="9510016.ab.10" pmid="9510016" alias="mosaic">
<answer instance="9510016.ab.10" senseid="M2"/>
<context>
title Cytogenetic abnormalities in uterine myomas are associated with myoma size title Uterine leiomyomata myomas are associated with a variety of characteristic cytogenetic abnormalities The significance of these chromosomal aberrations in the pathobiology of myomas remains to be determined The present study investigated the relationship between myoma cytogenetic abnormalities and size A total of 114 myoma specimens were obtained from 92 patients undergoing myomectomy or hysterectomy The maximum diameter of each myoma was measured and a portion of each myoma obtained for cytogenetic analysis Karyotypes were analysed and categorized as normal abnormal non mosaic or mosaic Cytogenetic analyses revealed 73 64 normal 20 18 abnormal non mosaic and 21 18 mosaic karyotypes Mean myoma diameter was 6 5 0 44 cm with a range of 0 4 27 cm Differences between the mean myoma diameter of specimens with normal versus abnormal karyotypes was determined by the Kruskal Wallis test The mean myoma diameter among specimens with abnormal local non <head>mosaic</head> local karyotypes was significantly greater than myomas with normal karyotypes 10 2 5 9 versus 5 9 4 2 cm P lt 0 001 The proportion of abnormal non mosaic karyotypes in myomas 6 5 cm was compared to myomas lt 6 5 cm by chi2 analysis myomas 6 5 cm demonstrated a significantly higher proportion of abnormal non mosaic karyotypes when compared to myomas lt 6 5 cm 75 versus 34 P lt 0 02 In summary a significant relationship exists between clonal cytogenetic abnormalities and myoma size suggesting that chromosomal abnormalities associated with individual myomas enhance myoma growth
</context>
</instance>
<instance id="9507402.ab.1" pmid="9507402" alias="mosaic">
<answer instance="9507402.ab.1" senseid="M2"/>
<context>
title A molecular cytogenetic and clinical evaluation of mosaic tandem duplication 17p and Charcot Marie Tooth type 1A neuropathy title An 8 year old girl with partial duplication of the short arm of chromosome 17 had local a <head>mosaic</head> 46 local XX der 17 del 17 p12 dup 17 p11 2p12 ish dup 17 p11 2p13 3 D17S 379x2 p53x2 D17S122x2 D17S29 karyotype The extent of mosaicism was 20 in lymphoblasts and 100 in fibroblasts Fluorescence in situ hybridisation FISH proved invaluable in defining the abnormality precisely The cytogenetic morphology by FISH assay ruled out a microdeletion of the Miller Dieker syndrome MDS region However there was no MDS deletion but a duplication of this region The duplication was extensive and included proximal p53 and D17S122 Charcot Marie Tooth type 1A CMT1A but not D17S29 the Smith Magenis syndrome SMS region This patient has the clinical features and generalised decreased peripheral nerve conduction velocity characteristic of CMT1A The clinical management of paediatric cases of mosaic trisomy 17p cases would ential testing for CMT1A duplication If duplicated a decrease in nerve conduction velocity NCV of the peripheral motor neurones would be necessary to ensure the manifestation of CMT1A neuropathy The parents of probands with delayed NCV should be counselled about the risk of CMT1A in later life
</context>
</instance>
<instance id="9526537.ab.1" pmid="9526537" alias="mosaic">
<answer instance="9526537.ab.1" senseid="M1"/>
<context>
title Sequence diversity in the NIb coding region of eight sugarcane mosaic potyvirus isolates infecting sugarcane in Australia title We have sequenced the NIb coding region local of sugarcane <head>mosaic</head> potyvirus strain SC local SCMV SC and eight field isolates of SCMV from Australia This region comprised 1563 nucleotides and encoded a putative protein of 521 amino acids containing the consensus motif GDD The protease cleavage sites between the NIa NIb and the NIb coat protein were found to be Q C and Q A respectively The SCMV sequences were most similar to sorghum mosaic potyvirus with identities of 70 and 78 at the nucleotide and amino acid levels respectively When the sequences were compared to each other there was a maximum of 3 3 variation between isolates at the nucleotide level and a maximum of 0 8 at the amino acid level Phylogenetic analysis of the sequences indicated the field isolates were grouped according to their geographical location The SCMV sequence with most homology to all other isolates has been selected to generate constructs for replicase mediated resistance
</context>
</instance>
<instance id="9526537.ab.4" pmid="9526537" alias="mosaic">
<answer instance="9526537.ab.4" senseid="M1"/>
<context>
title Sequence diversity in the NIb coding region of eight sugarcane mosaic potyvirus isolates infecting sugarcane in Australia title We have sequenced the NIb coding region of sugarcane mosaic potyvirus strain SC SCMV SC and eight field isolates of SCMV from Australia This region comprised 1563 nucleotides and encoded a putative protein of 521 amino acids containing the consensus motif GDD The protease cleavage sites between the NIa NIb and the NIb coat protein were found to be Q C and Q A respectively The SCMV sequences were most similar local to sorghum <head>mosaic</head> potyvirus local with identities of 70 and 78 at the nucleotide and amino acid levels respectively When the sequences were compared to each other there was a maximum of 3 3 variation between isolates at the nucleotide level and a maximum of 0 8 at the amino acid level Phylogenetic analysis of the sequences indicated the field isolates were grouped according to their geographical location The SCMV sequence with most homology to all other isolates has been selected to generate constructs for replicase mediated resistance
</context>
</instance>
<instance id="9463361.ab.7" pmid="9463361" alias="mosaic">
<answer instance="9463361.ab.7" senseid="M2"/>
<context>
title Strabismus a novel gene that regulates tissue polarity and cell fate decisions in Drosophila title Polarity in the Drosophila eye is manifested as a dorsoventral reflection of two chiral forms of the individual unit eyes or ommatidia These forms fall on opposite sides of a dorsoventral midline of mirror symmetry known as the equator Polarity is established in the eye imaginal disc as cells adopt their fates and as the ommatidial precursors undergo coordinated rotation within the epithelium the mechanisms that coordinate these early patterning events remain poorly understood We have identified a novel gene strabismus stbm which is required to establish polarity in the eye legs and bristles of Drosophila Many stbm ommatidia are reversed anteroposteriorly and or dorsoventrally In stbm eye discs ommatidial rotation is delayed and some ommatidial precursors initiate rotation in the wrong direction local <head>Mosaic</head> analysis local indicates that stbm is ommatidium autonomous and required in most if not all photoreceptors within an ommatidium to establish normal polarity stbm also appears to play an instructive role during the establishment of the fates of photoreceptors R3 and R4 stbm encodes a novel protein with a potential PDZ domain binding motif and two possible transmembrane domains Sequence analysis of both vertebrate and invertebrate homologs indicates that stbm has been highly conserved throughout evolution
</context>
</instance>
<instance id="9507476.ab.2" pmid="9507476" alias="mosaic">
<answer instance="9507476.ab.2" senseid="M1"/>
<context>
title Composite x ray image assembly for large field digital mammography with one and two dimensional positioning of a focal plane array title To demonstrate the feasibility of a novel large field digital mammography technique a 1024 x 1024 pixel Loral charge coupled device CCD focal plane array FPA was positioned in a mammographic field with one and two dimensional scan sequences to obtain 950 x 1800 pixel and 3600 x 3600 pixel composite images respectively These experiments verify that precise positioning of FPAs produced seamless composites and local that the CCD <head>mosaic</head> concept local has potential for high resolution large field imaging The proposed CCD mosaic concept resembles a checkerboard pattern with spacing left between the CCDs for the driver and readout electronics To obtain a complete x ray image the mosaic must be repositioned four times with an x ray exposure at each position To reduce the patient dose a lead shield with appropriately patterned holes is placed between the x ray source and the patient The high precision motorized translation stages and the fiber coupled scintillating screen CCD sensor assembly were placed in the position usually occupied by the film cassette Because of the high mechanical precision seamless composites were constructed from the subimages This paper discusses the positioning image alignment procedure and composite image results The paper only addresses the formation of a seamless composite image from subimages and will not consider the effects of the lead shield multiple CCDs or the speed of motion
</context>
</instance>
<instance id="9509408.ab.2" pmid="9509408" alias="mosaic">
<answer instance="9509408.ab.2" senseid="M1"/>
<context>
title Identification of one of the major viruses infecting garlic plants garlic virus X title A partial cDNA clone for garlic virus X GVX was isolated GVX was identified immunologically with an antibody raised against the recombinant coat protein CP and demonstrated to be one of the major viruses infecting garlic plants local showing <head>mosaic</head> local or streak symptoms GVX belongs to an unassigned group of ShVX and GarV type viruses rather than to carlaviruses or potexviruses The recombinant CP of GVX was purified by Ni 2 NTA affinity chromatography Anti GVX CP antibody was raised against the purified recombinant CP GVX particle is flexuous rod shaped and about 750 nm long as determined by immunoelectron microscopy The extent of infection by GVX of garlic plants was analyzed by Northern or immunoblot analyses of individual garlic plants cultivated in different regions These results showed that almost all of the garlic plants tested from 40 different regions including America China Japan and Korea are infected with GVX
</context>
</instance>
<instance id="9504923.ab.5" pmid="9504923" alias="mosaic">
<answer instance="9504923.ab.5" senseid="M2"/>
<context>
title hold up is required for establishment of oocyte positioning follicle cell fate and egg polarity and cooperates with Egfr during Drosophila oogenesis title In Drosophila the posterior positioning of the oocyte within the germline cluster defines the initial asymmetry during oogenesis From this early event specification of both body axes is controlled through reciprocal signaling between germline and soma Here it is shown that the mutation hold up hup affects oocyte positioning in the egg chamber follicle cell fate and localization of different markers in the growing oocytes This occurs not only in dicephalic egg chambers but also in oocytes normally located at the posterior Generation local of <head>mosaic</head> egg chambers local indicates that hup has to be at least somatically required Possible interactions of hup with Egfr the Drosophila epidermal growth factor receptor homolog have been investigated in homozygous double mutants constructed by recombination Stronger new ovarian phenotypes have been obtained the most striking being accumulation of follicle cells in multiple layers posteriorly to the oocyte It is proposed that the hup gene product is a component of the molecular machinery that leads to the establishment of polarity both in follicle cell layer and oocyte acting in the same or in a parallel pathway of Egfr
</context>
</instance>
<instance id="9527951.ti.1" pmid="9527951" alias="mosaic">
<answer instance="9527951.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> trisomy 8 local a cautionary note regarding missed antenatal diagnosis title Chromosomal analysis of fetal cells is a commonly used safe and highly accurate procedure The rate of false negative results is unknown Recent experience at four centers suggests that there may be a particular likelihood for mosaic trisomy 8 to be missed with routine antenatal diagnostic procedures This report reviews these cases the characteristic findings of mosaic trisomy 8 and the tissue specific differential yield of chromosomal analysis that may contribute to the increased risk of missed antenatal diagnosis in patients with this disorder
</context>
</instance>
<instance id="9513828.ab.5" pmid="9513828" alias="mosaic">
<answer instance="9513828.ab.5" senseid="M1"/>
<context>
title Portal hypertensive gastropathy reproducibility of a classification prevalence of elementary lesions sensitivity and specificity in the diagnosis of cirrhosis of the liver A NIEC multicentre study New Italian Endoscopic Club see comments title OBJECTIVE To classify elementary endoscopic lesions of portal hypertensive gastropathy assess their reproducibility prevalences sensitivity and specificity in the diagnosis of cirrhosis of the liver METHODS 1 A classification of portal hypertensive gastropathy elementary lesions was defined 2 Thirty two endoscopists evaluated videotapes of endoscopic examinations of patients with liver cirrhosis to assess beyond chance agreement kappa 3 Fifteen centres enrolled consecutive patients with or without cirrhosis of the liver and recorded portal hypertensive gastropathy pattern according to its location RESULTS 1 Four elementary lesions local <head>Mosaic</head> Like Pattern local Red Point Lesions Cherry Red Spots Black Brown Spots were identified and graded 2 A fair to good beyond chance agreement was obtained for all 4 lesions 3 portal hypertensive gastropathy prevalence was higher in patients with cirrhosis of the liver 0 63 sensitivity than in controls 0 17 Mosaic like pattern was the most prevalent sign 0 54 Specificity of portal hypertensive gastropathy was 0 83 Portal hypertensive gastropathy was tentatively classified as mild or severe when mosaic like pattern alone or red marks of any kind were present respectively this classification led to a further improvement in reproducibility CONCLUSIONS Our results suggest that a sufficient degree of agreement can be achieved in recording portal hypertensive gastropathy Therefore the New Italian Endoscopic Club classification should be used to evaluate the natural history of this condition
</context>
</instance>
<instance id="9580349.ab.15" pmid="9580349" alias="mosaic">
<answer instance="9580349.ab.15" senseid="M1"/>
<context>
title Usefulness of videoduodenoscopy and vital dye staining as indicators of mucosal atrophy of celiac disease assessment of interobserver agreement see comments title BACKGROUND The present study was designed to determine the diagnostic usefulness of videoduodenoscopic inspection alone and the addition of vital dye staining in the detection of celiac disease We additionally sought to evaluate interobserver agreement for specific duodenoscopic markers of mucosal atrophy METHODS One hundred sixty seven consecutive subjects who underwent duodenoscopy for intestinal biopsy were included in a prospective controlled study Endoscopic examination was performed by experienced endoscopists according to a set protocol using methylene blue 1 dye All procedures were recorded on videotape but only 20 10 with atrophy and 10 normal were used in a blinded independent randomized analysis by five reviewers to evaluate interobserver agreement Endoscopic signs indicative of mucosal atrophy were as follows reduction in the number or loss of Kerkring's folds scalloped folds mosaic pattern and visualization of the underlying blood vessels RESULTS Eighty seven patients had celiac disease 57 newly diagnosed 30 when treated Seven treated patients had nonatrophic mucosa In 80 patients the final diagnosis excluded celiac disease Videoendoscopic inspection alone correctly identified 75 of 80 patients with complete mucosal atrophy and 86 of 87 with normal mucosa False negative diagnoses occurred in treated celiac patients with mild atrophy Mosaic pattern 89 and scalloped folds 86 were the most useful endoscopic signs Vital dye staining as assessed by experienced endoscopists provided identical results to those obtained by inspection alone Sensitivity specificity and positive and negative predictive values for the presence of one or more than one feature were 94 100 100 and 96 respectively The agreement kappa statistics among observers was excellent local for the <head>mosaic</head> pattern local kappa 0 76 for both the videoendoscopic inspection alone and dye staining and the scalloped folds kappa 0 83 and 0 76 respectively and was fair kappa 0 41 and 0 59 respectively for the reduction in the number or loss of duodenal folds CONCLUSION This study confirms that videoduodenoscopy is useful in the detection of intestinal atrophy Dye staining produces a better delineation of scalloped folds and mosaic pattern in the atrophic mucosa but did not provide additional information to the expert endoscopist Finally interobserver agreement was excellent for the most prevalent signs
</context>
</instance>
<instance id="9545104.ti.1" pmid="9545104" alias="mosaic">
<answer instance="9545104.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> trisomy 18 male local with normal intelligence who fathered a normal baby girl letter title
</context>
</instance>
<instance id="9574690.ab.2" pmid="9574690" alias="mosaic">
<answer instance="9574690.ab.2" senseid="M2"/>
<context>
title Typing of Helicobacter pylori vacA gene and detection of cagA gene by PCR and reverse hybridization title The present report describes an analysis of two virulence genes of Helicobacter pylori Parts of the cagA gene as well as parts from the signal s and middle m regions local of the <head>mosaic</head> vacA gene local were amplified with biotin labelled PCR primers and the products were subsequently analyzed by a single step reverse hybridization line probe assay LiPA This assay comprises a strip containing multiple specific probes for the vacA s region sla slb and s2 alleles the vacA m region ml and m2 alleles and the cagA gene A total of 103 H pylori positive materials including cultured isolates gastric biopsy specimens and surgical specimens from patients living in Portugal n 55 and The Netherlands n 48 were tested by the PCR LiPA cagA was detected in 84 and 73 of the Portuguese and Dutch patients respectively vacA typing results as determined by reverse hybridization were completely concordant with those of sequence analysis Most Portuguese patients 72 contained type slb whereas most Dutch patients 61 contained type sla P lt 0 001 The method is also very effective at detecting the presence of multiple genotypes in a single biopsy specimen The prevalence of multiple strains in Portuguese patient samples was significantly higher 29 than that in Dutch patient samples 8 P 0 001 There was a significant association between the presence of ulcers or gastric carcinoma and the presence of vacA type sl sla or slb P 0 008 and cagA P 0 003 genes
</context>
</instance>
<instance id="9529362.ab.15" pmid="9529362" alias="mosaic">
<answer instance="9529362.ab.15" senseid="M2"/>
<context>
title Evidence that lymphangiomyomatosis is caused by TSC2 mutations chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis title Lymphangiomyomatosis LAM is a rare disease of unknown etiology affecting women almost exclusively Lung transplantation is the only consistently effective therapy for LAM Microscopically LAM consists of a diffuse proliferation of smooth muscle cells LAM can occur without evidence of other disease referred to as sporadic LAM or in association with tuberous sclerosis complex TSC TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures mental retardation and tumors in the brain heart skin and kidney Renal angiomyolipomas occur in approximately 50 of sporadic LAM patients and in 70 of TSC patients Loss of heterozygosity LOH in the chromosomal region for the TSC2 gene occurs in 60 of TSC associated angiomyolipomas Because of the similar pulmonary and renal manifestations of TSC and sporadic LAM we hypothesized that LAM and TSC have a common genetic basis We analyzed renal angiomyolipomas from 13 women with sporadic LAM for LOH in the regions of the TSC1 chromosome 9q34 and TSC2 chromosome 16p13 genes TSC2 LOH was detected in seven 54 of the angiomyolipomas We also found TSC2 LOH in four lymph nodes from a woman with retroperitoneal LAM No TSC1 LOH was found Our findings indicate that the TSC2 gene may be involved in the pathogenesis of sporadic LAM However genetic transmission of LAM has not been reported Women with LAM may have low penetrance germ line TSC2 mutations or they may be local <head>mosaic</head> local with TSC2 mutations in the lung and the kidney but not in other organs
</context>
</instance>
<instance id="9614969.ab.2" pmid="9614969" alias="mosaic">
<answer instance="9614969.ab.2" senseid="M2"/>
<context>
title Resistant penicillin binding proteins title Low affinity penicillin binding proteins PBPs which participate in the beta lactam resistance of several pathogenic bacteria have different origins Natural transformation and recombination events with DNA acquired from neighbouring intrinsically resistant organisms are responsible for the appearance local of <head>mosaic</head> genes local encoding two or three low affinity PBPs in highly resistant strains of transformable microorganisms such as Neisseria and Streptococcus pneumoniae Methicillin resistant Staphylococcus aureus and coagulase negative staphylococcal strains possess the mecA determinant gene which probably evolved within the Staphylococcus genus from a closely related and physiologically functional gene that was modified by point mutations The expression of mecA is either inducible or constitutive A stable high level resistant phenotype requires the synthesis of a normally constituted peptidoglycan Enterococci have a natural low susceptibility to beta lactams related to the presence of an intrinsic low affinity PBP Highly resistant enterococcal strains overexpress this PBP and or reduce its affinity
</context>
</instance>
<instance id="9579397.ab.3" pmid="9579397" alias="mosaics">
<answer instance="9579397.ab.3" senseid="M1"/>
<context>
title Activity regulated cell death contributes to the formation of ON and OFF alpha ganglion cell mosaics title At maturity ON and OFF alpha ganglion cells in the cat retina are arrayed in regular mosaics with adjacent cells commonly forming ON OFF pairs In the present study we investigated the role of activity mediated ganglion cell death in the formation of such cellular patterns Because direct measures local of ganglion cell <head>mosaics</head> local are problematic in the developing retina we examined the distributions of ON and OFF alpha cells in the postnatal cat retina by assessing the degree to which cells in closest proximity were of opposite sign i e ON OFF pairs Computer simulations demonstrated that superimposition of two regular distributions results in a high incidence approximately 90 of opposite sign pairs This is also the case for ON and OFF alpha cells in the mature retina reflecting the high degree of regularity exhibited by this cell class In contrast during the first postnatal month alpha cells displayed a much lower incidence of opposite sign pairs approximately 60 comparable to the superimposition of two simulated random distributions We also show that there is a 20 loss of alpha cells in the central retina during postnatal development and that this magnitude of loss is sufficient to form regular distributions of ON and OFF cells To assess the influence of sodium voltage gated activity on this developmental process intraocular injections of tetrodotoxin TTX were made during the postnatal period of alpha cell loss When the TTX treated animals reached maturity there was a dose related decrease in the incidence of opposite sign pairs without any appreciable change in cell density Moreover the regularity index of ON and OFF cells was significantly lower than normal in the TTX treated retinas These findings demonstrate that a spatially selective pattern of ganglion cell loss contributes to the formation of regular ON and OFF ganglion cell distributions and that such cell loss is regulated by retinal activity
</context>
</instance>
<instance id="9539345.ab.7" pmid="9539345" alias="mosaic">
<answer instance="9539345.ab.7" senseid="M1"/>
<context>
title X linked Dystonia Deafness syndrome title We report a family with early onset deafness and progressive dystonia exclusively involving males over two successive generations There is also evidence of cognitive impairment and corticospinal tract involvement The pedigree suggests an X linked inheritance A similar family was originally described by Scribanu and Kennedy Tranebjaerg et al have recently reported two other families with linkage to Xq22 and also proposed a novel X linked candidate gene These findings support the existence of a distinct neurodegenerative syndrome principally characterized by early onset deafness and progressive dystonia Neuropathology of one case showed local a <head>mosaic</head> pattern local of neuronal loss and gliosis in the caudate and putamen suggesting that this pattern is not restricted to XDP or Lubag
</context>
</instance>
<instance id="9588809.ti.1" pmid="9588809" alias="mosaic">
<answer instance="9588809.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> genes local and their role in penicillin resistant Streptococcus pneumoniae title Penicillin resistance in clinical isolates of Streptococcus pneumoniae is mediated by mosaic genes encoding altered penicillin binding proteins Mosaic sequence blocks are the result of a genetic exchange between related streptococcal species It is likely that resistance has emerged in commensal streptococci before being transferred into the pneumococcus Closely related mosaic genes are found in different pneumococcal clones and in different streptococcal species isolated worldwide since the first reports on such strains in the late 70s demonstrating the importance of commensal streptococci for the spread of selectable markers in naturally transforming pathogens
</context>
</instance>
<instance id="9587677.ab.12" pmid="9587677" alias="mosaic">
<answer instance="9587677.ab.12" senseid="M1"/>
<context>
title Somatic and dendritic mosaics formed by large ganglion cells in the retina of the common house gecko Hemidactylus frenatus title Recent studies of large ganglion cells in fishes and frogs have identified a shared inventory of three basic types with characteristic forms and spatially independent mosaic distributions These anamniote types and mosaics are hard to match to the large ganglion cell types and mosaics of mammals implying that the underlying developmental programmes have diverged during evolution Reptiles and mammals both belong to the amniote lineage so the point of divergence can be investigated by comparing the large ganglion cells of reptiles with those of mammals taking fishes and frogs as outgroups With this aim ganglion cells of the common house gecko Hemidactylus frenatus were labelled with horse radish peroxidase by an in vitro method and studied in retinal flatmounts Two prominent regular spatially independent mosaics were consistently present One alpha a was characterized by somata displaced into the inner nuclear layer and dendrites forming planar trees in sublamina a the other alpha ab comprised large orthotopic somata and distinctive bistratified dendrites that formed discrete planar subtrees in sublaminae a and b These subtrees were joined by up to 40 vertical link segments whose distribution was found to correlate with the underlying photoreceptor mosaic Some specimens also contained patches of a third mosaic alpha c characterized by large orthotopic somata and very large flat trees in sublamina c but the labelling of this type was inconsistent These reptilian mosaics share several distinctive characters with anamniote alpha cell mosaics but differ markedly from the ganglion cell mosaics of any known mammal The most parsimonious conclusion is that those mosaic features that are shared by the ganglion cells of all nonmammals are homologous and primitive symplesiomorphic while those that are shared by all therian mammals are homologous and derived synapomorphic This is consistent with other differences between mammalian and nonmammalian eyes local <head>Mosaic</head> formation local itself however seems to be a universal characteristic of large ganglion cells
</context>
</instance>
<instance id="9634096.ab.1" pmid="9634096" alias="mosaic">
<answer instance="9634096.ab.1" senseid="M1"/>
<context>
title Role of the helper component in vector specific transmission of potyviruses title Four aphid species were tested for their ability to transmit tobacco etch TEV and local turnip <head>mosaic</head> local TuMV potyviruses Myzus persicae and Aphis gossypii transmitted both viruses efficiently from infected plants whereas Lipaphis erysimi transmitted only TuMV and Myzus ascalonicus was a poor or non transmitter of either virus Similar electrically monitored probing patterns were produced by M persicae L erysimi and M ascalonicus ruling out behavioural differences as the cause of differential transmission Transmission results similar to those from infected plants were obtained when these aphids acquired homologous virus helper component HC mixtures through membranes With heterologous virus HC mixtures M persicae remained a highly efficient vector and M ascalonicus a non vector but L erysimi became an efficient vector of TEV if acquired in the presence of TuMV HC and A gossypii transmitted both viruses less efficiently when acquired with TuMV HC Transmission was highly correlated with the retention of virus in the stylets as determined by autoradiography of 125I labelled virions The results show that constituent s of or in the food canal of different aphid species differ in their ability to interact with specific HCs leading to qualitative or quantitative differences in ability to retain and subsequently transmit specific potyviruses
</context>
</instance>
<instance id="9569987.ti.1" pmid="9569987" alias="mosaics">
<answer instance="9569987.ti.1" senseid="M2"/>
<context>
title Asymmetry in the occlusal morphology of first permanent molars in 45 X 46 local XX <head>mosaics</head> local title The genetic control of dental morphology is affected by various chromosomal aberrations and morphological changes familiar to specific aneuploidies can be distinguished in many cases Asymmetry between bilateral teeth in the dental arch in laboratory animals shows increased expression after exposure to external stress during development Bilateral asymmetry in occlusal cuspal morphology has not been widely used as a means of odontometric examination partly because accurate and reliable methods are not commonly available The aim here was to examine linear and angular variables of the occlusal morphology of maxillary and mandibular first permanent molars in three dimensions in individuals with 45 X 46 XX mosaicism and to find out if this aneuploidism causes deviations from normal development and increased asymmetry in bilateral variables of the occlusal surface The participants were five females with 45 X 46 XX chromosome constitution whose karyotypes were confirmed by cytogenetic tests of skin fibroblasts The controls were 10 first degree female relatives of the mosaic patients with normal 46 XX chromosome constitution The method of measuring the three dimensional morphology of occlusal surfaces was based on a machine vision technique using a single video imaging camera An apparent increase in asymmetry of occlusal morphology in first permanent molars in 45 X 46 XX mosaics was found As there was evidence of directional asymmetry it is possible that different cell lines regulated by discrete genes cause the directionality
</context>
</instance>
<instance id="9640334.ab.3" pmid="9640334" alias="mosaic">
<answer instance="9640334.ab.3" senseid="M2"/>
<context>
title FGF is an essential regulator of the fifth cell division in preimplantation mouse embryos title Fibroblast growth factor FGF signaling is required prior to gastrulation in the mouse embryo To test for the spatial and temporal requirements of FGF signaling a dominant negative FGF receptor dnFGFR was used to make transgenic mouse embryos local In <head>mosaic</head> embryos local cell division ceased at the fifth cell division in all cells that expressed the mutant receptor but cell death did not increase After the fifth cell division the progeny of unaltered cells and cells expressing lacZ continued to accumulate at the same rate suggesting that the FGF requirement is cell autonomous In mosaic embryos lacZ but not dnFGFR expression was detected in mitotic trophoblasts adjacent to the ICM Conversely dnFGFR expressing extraembryonic ectoderm cells were detected at the abembryonic pole in postmitotic cells In blastocysts expressing the dnFGFR in all cells the morphology appeared normal and inner cell masses ICMs formed but resultant embryos had only one third the number of cells as control embryos In these blastocysts cell division had also ceased at the fifth cell division but cavitation a concurrent morphogenetic event initiated and progressed normally To test for the continuing requirement of FGF FGFR 3 was overexpressed in all cells and resulted in an increase in cell numbers after the fifth cell cycle In a model for postimplantation development addition of FGF 4 to blastocyst outgrowths increased the number of extraembryonic ectoderm cells suggesting a continuing role for FGF Thus FGF signaling induces the cell division of embryonic and extraembryonic cells in the preimplantation mouse embryo starting at the fifth cell division The signal requirement for FGF is cell autonomous but is not required to prevent cell death This provides the first evidence for the necessity of a growth factor before implantation
</context>
</instance>
<instance id="9666845.ti.1" pmid="9666845" alias="mosaic">
<answer instance="9666845.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> expression local of uncein linear IgA bullous dermatosis antigen and 180 kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa letter comment title
</context>
</instance>
<instance id="9656480.ti.1" pmid="9656480" alias="mosaic">
<answer instance="9656480.ti.1" senseid="M2"/>
<context>
title local The <head>mosaic</head> nature local of the eukaryotic nucleus title The phylogenies for each of the protein coding genes from the Methanococcus jannaschii genome were surveyed to determine the history of the major groups of life For each gene homologous sequences from other archaea eucarya and Gram positive and Gram negative bacteria were collected and aligned and a phylogeny was reconstructed with a maximum likelihood algorithm The majority of significant phylogenies favor the eucarya and the archaca as sister groups A smaller but still substantial portion of these significant phylogenies favor an eucarya Gram negative clade These results indicate that support for the early history of life is not unequivocal A chimeric origin of eukaryotes or an ancient massive horizontal transfer of genes from Gram negative bacteria to eucarya can explain many of the observed phylogenies
</context>
</instance>
<instance id="9557898.ab.7" pmid="9557898" alias="mosaic">
<answer instance="9557898.ab.7" senseid="M2"/>
<context>
title Dilemma of trisomy 20 mosaicism detected prenatally is it an innocent finding title The clinical significance of mosaicism trisomy 20 detected prenatally following amniocentesis remains uncertain due to the rarity of liveborn cases with inconsistent clinical findings the short postnatal follow up and failure in evaluating other fetal tissues for the presence of the trisomy We report on a 15 month old 46 XX chromosome constitution in white blood cells while skin fibroblasts demonstrated trisomy 20 mosaicism 54 by fluorescence in situ hybridization FISH analysis Clinical examination of the baby showed only minor phenotypic signs bilateral epicanthal folds delayed closure of fontanel with no other gross anomalies but demonstrated a considerable developmental delay in gross and fine motor skills along with hypotonicity This is the second oldest described liveborn with trisomy 20 mosaicism confirmed in skin fibroblasts This cytogenetic aberration along with her developmental delay suggests that the two findings are related and that aberration affects various fetal tissues and is not confined to extra embryonic tissue as suggested previously Yet an undiagnosed condition may be the cause of the child's developmental delay Based on this case and following a review of the literature we suggest local that when <head>mosaic</head> trisomy 20 local is identified in amniocytes further evaluation is required Cord blood should be analyzed preferably by FISH During counseling the parents should be advised of an additional risk such as developmental delay even when fetal cord karyotype and detailed ultrasonic scan are normal
</context>
</instance>
<instance id="9665864.ti.1" pmid="9665864" alias="mosaic">
<answer instance="9665864.ti.1" senseid="M2"/>
<context>
title Clonal boundary analysis in the developing retina local using X inactivation transgenic <head>mosaic</head> mice local title Transgenic mice harboring the lacZ reporter gene on one X chromosome have been used to mark 50 of all retinal progenitors The distribution of clones arising from this population of marked progenitors reveals a conspicuous columnar segregation of clonally related cells indicating that most retinal neuroblasts migrate exclusively radially Against this columnar background of the transgenic retina single cone horizontal amacrine and ganglion cells are observed to transgress clonal borders mixing freely with cells derived from different precursors This tangential dispersion is due to the lateral movement of postmitotic neuroblasts around the time of their differentiation rather than to the dispersion of a proliferative sibling at the time of cell birth Tangential dispersion is suggested to play a significant role in creating the functional architecture of the mature retina being the means by which the orderly spacing or regularity of retinal mosaics is established during development Copyright 1998 Academic Press
</context>
</instance>
<instance id="9556307.ti.1" pmid="9556307" alias="mosaic">
<answer instance="9556307.ti.1" senseid="M2"/>
<context>
title local <head>Mosaic</head> trisomy 22 local a case presentation and literature review of trisomy 22 phenotypes letter comment title
</context>
</instance>
<instance id="9687868.ti.1" pmid="9687868" alias="mosaic">
<answer instance="9687868.ti.1" senseid="M1"/>
<context>
title Involvement local of cucumber <head>mosaic</head> cucumovirus RNA2 local and RNA3 in viral systemic spread in radish plant title The genetics of cucumber mosaic cucumovirus CMV and the pathogenicity of the virus for Raphanus sativus were analyzed using pseudorecombinants constructed from the infectious transcripts of two naturally occurring strains of cucumber mosaic cucumovirus CMV D8 and CMV Y CMV D8 but not CMV Y could cause systemic infection of the plant Viral accumulation and systemic movement in the plants was examined using immuno tissue blot analysis dot blot and Northern blot hybridization Virus was equally distributed and CMV RNAs accumulated to similar levels in the inoculated cotyledons of radish irrespective of the pseudorecombinant suggesting that there are no apparent differences in the ability of infection and viral accumulation between CMV D8 and CMV Y We found however that both RNAs 2 and 3 of CMV D8 are involved in determining the efficiency for the systemic infection of R sativus Co operated interactions between genetic information of RNAs 2 and 3 would control the efficient translocation of virus from the inoculated leaves to the uninoculated upper leaves of radish plant
</context>
</instance>
<instance id="9687868.ab.1" pmid="9687868" alias="mosaic">
<answer instance="9687868.ab.1" senseid="M1"/>
<context>
title Involvement of cucumber mosaic cucumovirus RNA2 and RNA3 in viral systemic spread in radish plant title The genetics of cucumber mosaic cucumovirus CMV and the pathogenicity of the virus for Raphanus sativus were analyzed using pseudorecombinants constructed from the infectious transcripts of two naturally occurring strains local of cucumber <head>mosaic</head> cucumovirus local CMV D8 and CMV Y CMV D8 but not CMV Y could cause systemic infection of the plant Viral accumulation and systemic movement in the plants was examined using immuno tissue blot analysis dot blot and Northern blot hybridization Virus was equally distributed and CMV RNAs accumulated to similar levels in the inoculated cotyledons of radish irrespective of the pseudorecombinant suggesting that there are no apparent differences in the ability of infection and viral accumulation between CMV D8 and CMV Y We found however that both RNAs 2 and 3 of CMV D8 are involved in determining the efficiency for the systemic infection of R sativus Co operated interactions between genetic information of RNAs 2 and 3 would control the efficient translocation of virus from the inoculated leaves to the uninoculated upper leaves of radish plant
</context>
</instance>
<instance id="9644834.ab.5" pmid="9644834" alias="mosaics">
<answer instance="9644834.ab.5" senseid="M2"/>
<context>
title Recovery of a marked translocation strain that will facilitate the isolation of balancer chromosomes in the Mediterranean fruit fly Ceratitis capitata title The results of two screens for mutations and chromosomal aberrations in Ceratitis capitata are presented Three dominant mutations were recovered including Sb which is associated with a homozygous lethal translocation between the third and fifth chromosomes T 3 5 Sb with the fifth chromosome breakpoint adjacent to y The T 3 5 Sb chromosome is maintained by selecting for Sb in a T 3 5 Sb w2 Sb y2 wp w2 y2 wp stock and can be used to distinguish between other chromosomes carrying differential combinations of the recessive markers w2 y2 wp The ability to isolate particular marked chromosomes is essential in order to recover an inversion based balancer chromosome In addition to the recovery of dominant mutations gamma ray induced local somatic <head>mosaics</head> local of w2 and y2 and zygotic w mosaics were found The generation of zygotic mosaics following mutagenesis can give mutants with a mosaic germ line that fail to breed true in the first generation A screen of 22 830 irradiated chromosomes failed to recover variegating alleles of w although such alleles might be recovered in a larger screen The high frequency of dominant mutations and the instability at the w locus in our stocks implies a background level of dysgenic activity These results have implications for the construction and long term maintenance of genetically modified strains
</context>
</instance>
<instance id="9653078.ti.1" pmid="9653078" alias="mosaic">
<answer instance="9653078.ti.1" senseid="M1"/>
<context>
title Medullary thymic epithelium local a <head>mosaic</head> local of epithelial self title
</context>
</instance>
<instance id="9643287.ti.1" pmid="9643287" alias="mosaic">
<answer instance="9643287.ti.1" senseid="M2"/>
<context>
title Constitutional and local <head>mosaic</head> large NF1 gene deletions local in neurofibromatosis type 1 title A set of neurofibromatosis type 1 NF1 patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci Of 67 patient parent sets 47 new mutation patients and 20 familial cases five 7 5 showed loss of heterozygosity LOH indicative of NF1 gene deletion These five patients did not have severe NF1 manifestations mental retardation or dysmorphic features in contrast to previous reports of large NF1 deletions All five deletions were de novo and occurred on the maternal chromosome However two patients showed partial LOH consistent with somatic mosaicism for the deletion suggesting that mosaicism may be more frequent in NF1 than previously recognised and may have bearing on clinical severity We suggest that large NF1 deletions 1 are not always associated with unusual clinical features 2 tend to occur more frequently on maternal alleles and 3 are an important mechanism for constitutional and somatic mutations in NF1 patients
</context>
</instance>
<instance id="9622628.ab.4" pmid="9622628" alias="mosaic">
<answer instance="9622628.ab.4" senseid="M2"/>
<context>
title Dual functions of the Drosophila eyes absent gene in the eye and embryo title In eyes absent eya mutants eye progenitor cells undergo cell death early in development Whereas the phenotype of eya1 is limited to the eye other mutations are lethal Genetic and molecular analysis reveals that mutations in one region of the gene cause embryonic lethality whereas mutations throughout the gene cause defects in eye development local <head>Mosaic</head> analysis local indicates that the eya requirement is cell autonomous In eye specific mutants expression in the eye disc is lacking while embryonic expression is normal Both the type I and type II transcripts are expressed in the developing eye and expression of either can rescue the eye phenotype These data indicate a specific requirement for eya function in eye progenitor cells that is normally fulfilled by both transcripts Copyright 1998 Elsevier Science Ireland Ltd All rights reserved
</context>
</instance>
<instance id="9678337.ab.4" pmid="9678337" alias="mosaics">
<answer instance="9678337.ab.4" senseid="M2"/>
<context>
title Direct and mediated effects of testosterone analysis of sex reversed mosaic mice heterozygous for testicular feminization title Sex reversed mice are XX males carrying on one of their X chromosomes a translocation of the sex determining region of the Y Cattanach's Sxr factor The phenotype corresponds to the Klinefelter syndrome in man The X linked Tfm testicular feminization mutation in the mouse is a frame shift in the androgen receptor gene leading to complete androgen insensitivity Due to random X inactivation sex reversed mice heterozygous for Tfm are local <head>mosaics</head> local composed of a variable proportion of androgen insensitive X Tfm and androgen sensitive X wildtype cells In the intersexual genital tract Tfm cells are maintained as undifferentiated cells in the epididymal duct To the distorted prostate lobes and bulbourethral glands they contribute some lobules of indifferent urethral glands A large contribution of Tfm cells allows downgrowth of Wolffian and Mullerian ducts to form a vagina In the external genitalia the stimulatory effect of testosterone is reduced leading to various degrees of feminization correlating with the proportion of Tfm cells present In the mosaics effects of testosterone mediated by local growth factors from the wildtype to the Tfm cells can be distinguished from direct effects expressed only in the wildtype cells Mediated effects are embryonic induction and morphogenesis of male organs and postnatal maintenance of organ structure and proliferation The direct effect is cellular differentiation
</context>
</instance>
<instance id="9659412.ab.9" pmid="9659412" alias="mosaic">
<answer instance="9659412.ab.9" senseid="None"/>
<context>
title The stage of nutrition transition in different Brazilian regions title The stage of nutrition transition in Brazil at the end of the 1980s was evaluated using the data from a nationwide cross sectional anthropometry survey in Brazil in 1989 Pesquisa Nacional sobre Saude e Nutricao PNSN Comparable estimates of undernutrition and obesity were produced for children from 6 to 35 months old n 3 641 adult males from 20 to 64 years old n 14 235 and adult females from 18 to 64 years old n 15 669 Body Mass Index kg m2 was employed to assess both undernutrition and obesity in adults and weight for age undernutrition and weight for height obesity indices were used for children The 5th and 95th centiles of the distribution of these indices in a reference population were used as limits for the diagnosis of undernutrition and obesity respectively Ordering the frequency of the problems in the population showed obesity in women and undernutrition in children to be the two main nutritional disorders in the country These two problems are the most frequent in the urban population of the North Northeast and Center West regions and in the Southeast and Center West rural regions Obesity leads among both adults and children in the urban areas of the Southeast and South regions and in the rural South Only in the rural Northeast the poorest region in the country undernutrition leads among children men and women local This <head>mosaic</head> local of situations determines the need for a complete reassessment of traditional nutrition policies and programs employed in the country
</context>
</instance>
<instance id="9726247.ab.10" pmid="9726247" alias="mosaic">
<answer instance="9726247.ab.10" senseid="None"/>
<context>
title Developmental regulation of LR11 expression in murine brain title Receptors belonging to the low density lipoprotein receptor LDLR superfamily play important biological roles in addition to mediating lipoprotein metabolism The recent discovery of a novel mosaic LDLR family member by us Yamazaki H Bujo H Kusunoki J Seimiya K Kanaki T Morisaki N Schneider W J and Saito Y 1996 J Biol Chem 271 24761 24768 and others which we termed LR11 offers the opportunity to gain new insights into receptor multifunctionality The predominant expression of LR11 in brain and the presence of elements found in neural adhesion molecules suggested a function s in the central nervous system CNS In order to gain information about this complex receptor in an accessible system we have molecularly characterized the murine LR11 and report on its detailed localization and developmental expression pattern The primary sequence of the murine protein further establishes that LRlls are among the closest relatives within the LDLR family and that brain is the predominant site of expression In situ hybridization showed that neuronal bodies such as Purkinje cells in the cerebellum and other neurons in the hippocampal formations and the cerebral cortex are particularly rich in LR11 transcripts The developmental pattern of LR11 expression in brain which peaks at 2 weeks is in contrast to those of two other LDLR family members the very low density lipoprotein receptor and the LDLR During early development murine LR11 expression levels are highly dependent on neural cell types These findings are compatible with function s of LR11 in neural organization and possibly pathogenesis of degenerative brain diseases In addition detailed knowledge of LR11 biology will help to elucidate the roles local of other <head>mosaic</head> proteins local that share with LR11 elements whose function is not yet known
</context>
</instance>
<instance id="9635197.ab.4" pmid="9635197" alias="mosaic">
<answer instance="9635197.ab.4" senseid="M2"/>
<context>
title Two phases of Hox gene regulation during early Xenopus development title We have shown previously that fibroblast growth factor FGF signalling in posterior regions of the Xenopus embryo is required for the development of the trunk and tail via a molecular pathway that includes the caudal related gene Xcad3 and the posterior Hox genes 1 These results have been contested by the work of Kroll and Amaya 2 which shows that Xenopus embryos transgenic for a dominant negative form of the FGF receptor FGF RI express posterior Hox genes normally leading these authors to suggest that the FGFs are not required for anteroposterior A P patterning of the dorsal axis In order to investigate the apparent discrepancy between these studies we have produced Xenopus embryos transgenic for two inhibitors of the FGF Caudal pathway a kinase deficient dominant negative FGF receptor XFD 3 and a domain swapped form of Xcad3 Xcad EnR in which the activation domain of Xcad3 is replaced by the repression domain of the Drosophila Engrailed protein Both of these were introduced as fusions with the green fluorescent protein GFP which allows identification local of non <head>mosaic</head> transgenic embryos local at early gastrula stages by simply looking for GFP fluorescence Analysis of gene expression in embryos transgenic for these constructs indicated that the activation of posterior Hox genes during early neurula stages absolutely requires FGF signalling and transcriptional activation by Xcad3 while the maintenance of Hox gene expression in the trunk and tail during later development is independent of both FGF and Xcad
</context>
</instance>
<instance id="9665292.ab.3" pmid="9665292" alias="mosaic">
<answer instance="9665292.ab.3" senseid="M1"/>
<context>
title Scanning electron microscopy study of the tarsal and orbital conjunctival surfaces compared to peripheral corneal epithelium in pigmented rabbits title The mammalian palpebral conjunctiva has not been systematically evaluated by scanning electron microscopy SEM The upper eyelid of female grey rabbits 2 kg was fixed in its extended conformation at 15 00 h some corneas were prepared with the same fixative protocol The corneal epithelium within 1 mm of the limbus is local a <head>mosaic</head> local of small to large average cell area of 693 m2 squamous cells with light medium or dark appearance due to different densities of cell surface microplicae The tarsal conjunctiva was a 1 5 to 3 mm wide mosaic of small average cell area of 86 microm2 non desquamating polygonal cells having distinctive light and dark appearances due surface microplicae The orbital portion of the palpebral conjunctiva is also composed of small average cell area of 87 microm2 non desquamating polygonal cells but with a uniform medium grey appearance due to a relatively consistent density of surface microvilli Several types of intercellular pore like openings were also present across the palpebral surface but not the corneal epithelial surface Very small type 1 pores 1 5 to 5 microm diameter were present at a density of 480 to 760 mm2 for the tarsal and 80 160 mm2 for orbital conjunctiva Slightly larger 2 5 to 18 microm diameter type 2 pores with distinct borders were present at 120 200 mm2 across the orbital conjunctiva Very large 10 109 microm diameter type 3 Henle pores were present at 40 to 280 mm2 especially at the tarsal orbital transition zone Type 4 pores goblet cell orifices were oval with a peripheral ring of microvilli and were present at 40 to 160 mm2 for tarsal and 800 to 1600 mm2 for orbital conjunctiva The rabbit palpebral conjunctival surface is thus distinctly different from the peripheral corneal epithelium across which it slides following eyelid closure
</context>
</instance>
<instance id="9682479.ti.1" pmid="9682479" alias="mosaic">
<answer instance="9682479.ti.1" senseid="M1"/>
<context>
title Cloning and sequencing of a 16S 23S ribosomal spacer from Haemophilus parainfluenzae reveals local an invariant <head>mosaic</head> like organisation local of sequence blocks title A 16S 23S ribosomal spacer from a Haemophilus parainfluenzae rrn locus was cloned and sequenced Analysis of PCR amplified genomic fragments showed that this region is strongly conserved among unrelated isolates computer analysis of database homologies showed that the spacer consists of sequence blocks arranged in a mosaic like structure with strong homologies with analogous blocks present in the spacer regions of Haemophilus influenzae Haemophilus ducreyi and Actinobacillus spp It also contains a tRNA Glu gene which is highly homologous to tRNA Glu genes found in spacers of other species These data strongly support the hypothesis that recombination events are involved in the organisation of the sequence of the spacer as a result of horizontal gene transfer
</context>
</instance>
<instance id="9722860.ab.5" pmid="9722860" alias="mosaic">
<answer instance="9722860.ab.5" senseid="M1"/>
<context>
title Bronchiolitis obliterans syndrome thin section CT diagnosis of obstructive changes in infants and young children after lung transplantation title PURPOSE To characterize the thin section computed tomographic CT appearance of bronchiolitis fibrosa obliterans syndrome in infants and young children after lung transplantation MATERIALS AND METHODS Thin section CT studies in six patients with bronchiolitis obliterans syndrome age range 2 months to 5 1 2 years and in 15 control patients without obstructive airway disease age range 2 months to 7 years who underwent bilateral lung transplantation were retrospectively reviewed The thin section CT scans were obtained during quiet sleep at a median of 24 months range 6 36 months after transplantation The CT studies were evaluated for mosaic perfusion bronchial dilatation bronchial wall thickening and mucous plugging Final diagnoses in all patients were based pulmonary function test results RESULTS Thin section CT findings in the six patients with clinically proved bronchiolitis obliterans syndrome were local <head>mosaic</head> perfusion local in five 83 bronchial dilation in three 50 and bronchial wall thickening in one 17 Of the 15 control patients with normal pulmonary function test results six 40 had mosaic perfusion none had bronchial dilatation or bronchial wall thickening Mucous plugging was not seen in either group Only the association of bronchial dilatation with bronchiolitis obliterans syndrome was significant P 02 CONCLUSION Infants and young children with bronchiolitis obliterans syndrome after lung transplantation are more likely to have CT abnormalities than those with normal pulmonary function test results
</context>
</instance>
<instance id="9734050.ab.3" pmid="9734050" alias="mosaic">
<answer instance="9734050.ab.3" senseid="M1"/>
<context>
title Phylogenetic positions of phytoplasmas associated with dieback yellow crinkle and mosaic diseases of papaya and their proposed inclusion in Candidatus Phytoplasma australiense and a new taxon Candidatus Phytoplasma australasia title DNA extracted from three papaya Carica papaya L plants individually affected by dieback yellow crinkle or mosaic diseases was subjected to PCR using phytoplasma specific primers to amplify the 16S rRNA gene plus 16S 23S rRNA intergenic spacer region Near complete DNA sequences obtained for the three PCR amplimers were subjected to phylogenetic analyses and direct sequence comparison with other phytoplasma 16S rDNA and 16S 23S spacer region DNA sequences The papaya yellow crinkle PpYC and local papaya <head>mosaic</head> local PpM sequences were identical to each other but distinctly different from the papaya dieback PpDB sequence showing 90 3 identity in the he 16S rDNA and 87 8 identity in the 16S 23S spacer region DNA sequences A phylogenetic tree based on 16S rDNA sequences was calculated in which PpYC and PpM are most closely related to the tomato big bud phytoplasma TBB 99 7 16S rDNA sequence identity from Australia within subclade iii This subclade consists of strains only reported occurring in the Southern Asian region and Australia which indicates an Asian Australasian origin PpDB is most closely related to the Phormium yellow leaf phytoplasma from new Zealand PYL 99 9 identity and the Australian grapevine yellows phytoplasma AGY 99 7 identity These three phytoplasma strains form a distinct clade within subclade xii which also includes the European strains STOL and VK as another distinct clade The origin of the closely related but geographically separated AGY like strains and STOL like strains of subclade xii is unclear It is proposed that phytoplasma strains PpDB PYL and AGY be included in the previously described taxon Candidatus Phytoplasma australiense and that PbYC PpM and TBB be assigned to a new taxon Candidatus Phytoplasma australasia
</context>
</instance>
<instance id="9714253.ab.1" pmid="9714253" alias="mosaic">
<answer instance="9714253.ab.1" senseid="M1"/>
<context>
title Sequencing genomic localization and initial characterization of the VPg of pea enation mosaic enamovirus title The amino acid sequence of the genome linked viral protein VPg local of pea enation <head>mosaic</head> enamovirus local PEMV has been determined The VPg is encoded by nt 1811 1894 within ORF1 of RNA1 downstream of the proteinase motif Direct N terminus sequencing of intact and endoproteinase Asp N digested VPg combined with electrospray mass spectroscopy confirmed that the VPg is composed of 28 amino acids with a molecular mass of 3138 Da The context of the N and C terminus residues as well as the position and size of the VPg suggest that the mature VPg may be generated via post translational proteolytic processing of the polyprotein arrangement of membrane anchor proteinase VPg polymerase encoded by ORFs 1 and 2 Computer comparisons did not reveal any significant similarity between the VPg of PEMV and any other sequences including those of the VPgs of related subgroup II luteoviruses
</context>
</instance>
<instance id="9721241.ab.1" pmid="9721241" alias="mosaic">
<answer instance="9721241.ab.1" senseid="M1"/>
<context>
title Deletions in the conserved amino terminal basic arm of cucumber mosaic virus coat protein disrupt virion assembly but do not abolish infectivity and cell to cell movement title The N terminal basic arm local of cucumber <head>mosaic</head> cucumovirus local CMV coat protein CP contains a conserved arginine rich motif which is characteristic of RNA binding proteins of several plant and nonplant viruses To identify regions of the CMV CP N terminus that are essential for interacting with viral genomic RNA a comprehensive set of mutations was engineered into biologically active clones of CMV RNA3 and the behavior of each variant with respect to infectivity packaging and movement was examined Biological assays conducted in Chenopodium quinoa local lesion host and Nicotiana benthamiana systemic host revealed that variants lacking either 12 N proximal amino acids or a region containing four consecutive arginine residues of the CP N terminus were competent for assembly into virions and remained infectious in plants Interestingly two other variants lacking either 19 N proximal amino acids or a domain containing a cluster of six arginines in the arginine rich motif were incompetent for virion assembly but retained the ability to move cell to cell Taken together these results indicate that a major portion of the N terminal basic arm of CMV CP is dispensable for CP RNA interactions and also establish that CMV can move cell to cell in a nonvirion form The distinctive role played by the viral CP in movement and specifically the extent to which the CP N terminal basic arm is involved in the infection cycle of CMV are discussed Copyright 1998 Academic Press
</context>
</instance>
<instance id="9680667.ab.5" pmid="9680667" alias="mosaic">
<answer instance="9680667.ab.5" senseid="M1"/>
<context>
title Hair analysis for evaluation of selenium status in Managua population Nicaragua title Mean hair selenium of Managua citizens 743 mg kg was higher than of Moscow citizens Significant differences were detected between groups of citizens with different social sighs those with low income and perhaps irrational nutrition possess hair selenium value smaller 598 46 mg kg than those with relatively high income 713 40 mg kg Among recent country emigrants hair selenium was round to be the highest 898 60 mg kg This group of people possesses extremely low social status and consumes exclusively corn and beans Wide interval of selenium concentrations for cereals of Nicaragua 92 divided by 2580 mg kg for corn and 18 divided by 814 mg kg for beans suggests local <head>mosaic</head> selenium distribution local in the soils of Nicaragua and consequently high possibility of different human selenium status levels
</context>
</instance>
<instance id="9682877.ab.3" pmid="9682877" alias="mosaic">
<answer instance="9682877.ab.3" senseid="M1"/>
<context>
title The kinetics of tracer movement through homologous gap junctions in the rabbit retina title Observation of the spread of biotinylated or fluorescent tracers following injection into a single cell has become one of the most common methods of demonstrating the presence of gap junctions Nevertheless many of the fundamental features of tracer movement through gap junctions are still poorly understood These include the relative roles of diffusion and iontophoretic current and under what conditions the size local of the stained <head>mosaic</head> local will increase asymptote or decline Additionally the effect of variations in amount of tracer introduced as produced by variation in electrode resistance following cell penetration is not obvious To examine these questions Neurobiotin was microinjected into the two types of horizontal cell of the rabbit retina and visualized with streptavidin Cy3 Images were digitally captured using a confocal microscope The spatial distribution of Neurobiotin across the patches of coupled cells was measured Adequate fits to the data were obtained by fitting to a model with terms for diffusion and amount of tracer injected Results indicated that passive diffusion is the major source of tracer movement through gap junctions whereas iontophoretic current played no role over the range tested Fluorescent visualization although slightly less sensitive than peroxidase reactions produced staining intensities with a more useful dynamic range The rate constants for movement of Neurobiotin between A type horizontal cells was about ten times greater than that for B type horizontal cells Although direct extrapolation to ion conductances cannot be assumed tracer movement can be used to give an estimate of relative coupling rates across cell types retinal location or modulation conditions in intact tissue
</context>
</instance>
<instance id="9737776.ti.1" pmid="9737776" alias="mosaic">
<answer instance="9737776.ti.1" senseid="M2"/>
<context>
title Microphthalmia with linear skin defects syndrome local in a <head>mosaic</head> female infant local with monosomy for the Xp22 region molecular analysis of the Xp22 breakpoint and the X inactivation pattern title This paper describes a female infant with microphthalmia with linear skin defects syndrome MLS and monosomy for the Xp22 region Her clinical features included right microphthalmia and sclerocornea left corneal opacity linear red rash and scar like skin lesion on the nose and cheeks and absence of the corpus callosum Cytogenetic studies revealed a 45 X 18 46 X r X p22q21 24 46 X del X p22 58 karyotype Fluorescence in situ hybridization analysis showed that the ring X chromosome was positive for DXZ1 and XIST and negative for the Xp and Xq telomeric regions whereas the deleted X chromosome was positive for DXZI XIST and the Xq telomeric region and negative for the Xp telomeric region Microsatellite analysis for 19 loci at the X differential region of Xp22 disclosed monosomy for Xp22 involving the critical region for the MLS gene with the breakpoint between DXS1053 and DXS418 X inactivation analysis for the methylation status of the PGK gene indicated the presence of inactive normal X chromosomes The Xp22 deletion of our patient is the largest in MLS patients with molecularly defined Xp22 monosomy Nevertheless the result of X inactivation analysis implies that the normal X chromosomes in the 46 X del X p22 cell lineage were more or less subject to X inactivation because normal X chromosomes in the 45 X and 46 X r X p22q21 cell lineages are unlikely to undergo X inactivation This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy
</context>
</instance>
<instance id="9720293.ab.8" pmid="9720293" alias="mosaic">
<answer instance="9720293.ab.8" senseid="M2"/>
<context>
title The developmental basis for germline mosaicism in mouse and Drosophila melanogaster title Data involving germline mosaics in Drosophila melanogaster and mouse are reconciled with developmental observations Mutations that become fixed in the early embryo before separation of soma from the germline may by the sampling process of development continue as part of germline and or differentiate into any somatic tissue The cuticle of adult D melanogaster because of segmental development can be used to estimate the proportion of mutant nuclei in the early embryo but most somatic tissues and the germlines of both species continue from samples too small to be representative of the early embryo Because of the small sample of cells nuclei that remain in the germline after separation of soma in both species mosaic germlines have percentages of mutant cells that vary widely with a mean of 50 and an unusual platykurtic flat topped distribution While the sampling process leads to similar statistical results for both species their patterns of development are very different In D melanogaster the first differentiation is the separation of soma from germline with the germline continuing from a sample of only two to four nuclei whereas the adult cuticle is a representative sample of cleavage nuclei The presence of mosaicism in D melanogaster germline is independent of mosaicism in the eye head and thorax This independence was used to determine that mutations can occur at any of the early embryonic cell divisions and still average 50 mutant germ cells when the germline is local <head>mosaic</head> local however the later the mutation occurs the higher the proportion of completely nonmutant germlines In contrast to D melanogaster the first differentiation in the mouse does not separate soma from germline but produces the inner cell mass that is representative of the cleavage nuclei Following formation of the primitive streak the primordial germ cells develop at the base of the allantois and among a clonally related sample of cells providing the same statistical distribution in the mouse germlines as in D melanogaster The proportion of mutations that are fixed during early embryonic development is greatly underestimated For example a DNA lesion in a postmeiotic gamete that becomes fixed as a dominant mutation during early embryonic development of the F1 may produce an individual completely mutant in the germ line and relevant somatic tissue or alternatively the F1 germline may be completely mutant but with no relevant somatic tissues for detecting the mutation until the F2 In both cases the mutation would be classified as complete in the F1 and F2 respectively and not recognized as embryonic in origin Because germ cells differentiate later in mammalian development there are more opportunities for correlation between germline and soma in the mammal than Drosophila However because the germ cells and any somatic tissue like blood are derived from small samples there may be many individuals that test negative in blood but have germlines that are either mosaic or entirely mutant
</context>
</instance>
<instance id="9689989.ti.1" pmid="9689989" alias="mosaic">
<answer instance="9689989.ti.1" senseid="M2"/>
<context>
title Clinical characteristics associated with dup17 q24q25 1 local in a <head>mosaic</head> mother local and two non mosaic daughters published erratum appears in Clin Dysmorphol 1998 Oct 7 4 307 8 title We present cytogenetic and clinical findings in a familial case of dup 17 q24q25 1 The duplication was transmitted from the mosaic mother to two non mosaic daughters This is the first report involving duplication of 17q24q25 1 Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications but also included brachydactyly and craniosynostosis These findings represent additional clinical characteristics of distal 17q duplication and may indicate the presence of gene s involved in skeletal development in this region duplication of which may result in a phenotype resembling Ullrich Turner syndrome
</context>
</instance>
<instance id="9689989.ab.2" pmid="9689989" alias="mosaic">
<answer instance="9689989.ab.2" senseid="M2"/>
<context>
title Clinical characteristics associated with dup17 q24q25 1 in a mosaic mother and two non mosaic daughters published erratum appears in Clin Dysmorphol 1998 Oct 7 4 307 8 title We present cytogenetic and clinical findings in a familial case of dup 17 q24q25 1 The duplication was transmitted from the mosaic mother local to two non <head>mosaic</head> daughters local This is the first report involving duplication of 17q24q25 1 Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications but also included brachydactyly and craniosynostosis These findings represent additional clinical characteristics of distal 17q duplication and may indicate the presence of gene s involved in skeletal development in this region duplication of which may result in a phenotype resembling Ullrich Turner syndrome
</context>
</instance>
<instance id="9729403.ab.1" pmid="9729403" alias="mosaic">
<answer instance="9729403.ab.1" senseid="M1"/>
<context>
title Mosaic distribution of chondroitin and keratan sulphate in the developing rat striatum possible involvement of proteoglycans in the organization of the nigrostriatal system title The striatum of the mammalian basal ganglia is composed of two neurochemically distinct compartments termed patches and matrix that contribute overall local to a <head>mosaic</head> organization local Glycosaminoglycans GAGs the sugar moieties of proteoglycans provide specific spatio temporal guidance cues during the development of several functional neural systems However their distribution within the nigrostriatal system has not been investigated yet Here the immunohistochemical distributions of unsulphated C0S 4 sulphated C4S and 6 sulphated chondroitin C6S and keratan sulphate KS were examined in the developing neostriatum of rat and compared with the distribution of dopaminergic terminals All the chondroitin sulphate CS isomers are homogeneously expressed in the embryonic striatum After birth C0S and C6S reveal the striatal mosaic in being preferentially expressed within the matrix compartment and in boundaries around patches whereas the C4S epitope is present in both compartments with a slight patchy distribution KS expression is detected first in the patches during the early postnatal period and subsequently only in the matrix compartment All these GAG expressions disappear as the brain matures except for C4S which remains high throughout adult life Furthermore studies within the developing medial forebrain bundle reveal that CS isomers but not KS are expressed in and around the dopamine axonal tract but show similar developmental patterns of distribution which do not appear to be specifically associated with the nigrostriatal pathway These results suggest a possible implication of proteoglycans during the development of the striatum and may be useful for understanding the complex cellular and molecular interactions in degeneration and plasticity of the nigrostriatal circuit in Parkinson's disease Copyright 1998 Elsevier Science B V
</context>
</instance>
<instance id="9729403.ab.6" pmid="9729403" alias="mosaic">
<answer instance="9729403.ab.6" senseid="M1"/>
<context>
title Mosaic distribution of chondroitin and keratan sulphate in the developing rat striatum possible involvement of proteoglycans in the organization of the nigrostriatal system title The striatum of the mammalian basal ganglia is composed of two neurochemically distinct compartments termed patches and matrix that contribute overall to a mosaic organization Glycosaminoglycans GAGs the sugar moieties of proteoglycans provide specific spatio temporal guidance cues during the development of several functional neural systems However their distribution within the nigrostriatal system has not been investigated yet Here the immunohistochemical distributions of unsulphated C0S 4 sulphated C4S and 6 sulphated chondroitin C6S and keratan sulphate KS were examined in the developing neostriatum of rat and compared with the distribution of dopaminergic terminals All the chondroitin sulphate CS isomers are homogeneously expressed in the embryonic striatum After birth C0S and C6S reveal local the striatal <head>mosaic</head> local in being preferentially expressed within the matrix compartment and in boundaries around patches whereas the C4S epitope is present in both compartments with a slight patchy distribution KS expression is detected first in the patches during the early postnatal period and subsequently only in the matrix compartment All these GAG expressions disappear as the brain matures except for C4S which remains high throughout adult life Furthermore studies within the developing medial forebrain bundle reveal that CS isomers but not KS are expressed in and around the dopamine axonal tract but show similar developmental patterns of distribution which do not appear to be specifically associated with the nigrostriatal pathway These results suggest a possible implication of proteoglycans during the development of the striatum and may be useful for understanding the complex cellular and molecular interactions in degeneration and plasticity of the nigrostriatal circuit in Parkinson's disease Copyright 1998 Elsevier Science B V
</context>
</instance>
<instance id="9748486.ab.2" pmid="9748486" alias="mosaic">
<answer instance="9748486.ab.2" senseid="M2"/>
<context>
title An age associated correlation between cellular bioenergy decline and mtDNA rearrangements in human skeletal muscle title Post mitotic tissues such as skeletal muscle develop a tissue bioenergy mosaic during the process of normal aging that eventually culminates into a bioenergetically diverse tissue containing cells ranging in their oxidative phosphorylation capacity from normal to grossly defective local The <head>mosaic</head> local is postulated to develop continuously from birth with the relative proportions of cytochrome c oxidase COX proficient positive and COX deficient negative muscle fibers differing dramatically as a function of age Generally young individuals only display the rare fiber deficient in COX activity while aged individuals show a significantly higher proportion of negative fibers There appears to be a random element governing which cells will be affected Consequently adjacent cells within a given tissue may exhibit vastly differing COX activities Multiple mitochondrial DNA mtDNA deletions also appear to accumulate in skeletal muscle similarly displaying a dramatic disparity as a function of age Our previous findings have indicated that the accumulation of multiple mtDNA deletions along with a concurrent decrease in wild type mtDNA strongly correlates with the age associated decrease in COX activity observed in skeletal muscle Although no definitive associations were established at the cellular level an important prediction arose from this study Cells that accumulate large numbers of mitochondrial mutations and have reduced levels of full length mtDNA would be expected to be severely affected and show reduced COX activity as a consequence Cells that accumulate fewer mutations or retain adequate amounts of wild type mtDNA would be predicted to be less affected or even retain normal oxidative metabolism In order to establish a link associating COX activity to the status of mtDNA within individual fibers we developed single cell extra long PCR XL PCR The procedure was used to assess the relative concentration of full length mtDNA with respect to any mtDNA deletions detected in individual human skeletal muscle fibers of pre established COX activity Single cell XL PCR analysis of COX positive fibers dissected from a 5 year old and 90 year old individual showed that 80 or more of the fibers contained full length mtDNA and few if any mtDNA rearrangements COX deficient or COX intermediate fibers taken from the same individuals by contrast depicted a heterogeneous population of rearranged mtDNA species with no detectable full length mtDNA The data presented here indicates that COX deficient muscle fibers extracted from individuals regardless of age were accompanied by extensive mtDNA rearrangements and reduced levels of full length mtDNA This provides compelling evidence linking mtDNA mutations to COX activity decline in skeletal muscle and has important implications when considering the molecular basis of the aging process Copyright 1998 Elsevier Science B V
</context>
</instance>
<instance id="9584125.ab.1" pmid="9584125" alias="mosaic">
<answer instance="9584125.ab.1" senseid="M2"/>
<context>
title Identifying loci required for follicular patterning using directed mosaics title We have developed local a directed <head>mosaic</head> system local in Drosophila by using the GAL4 system to control the expression of the yeast recombinase FLP in a spatial and temporal fashion By directing FLP expression we show that it is possible to efficiently and specifically target loss of function studies for vital loci to the developmental pathway of interest A simple F1 adult phenotypic screen demonstrated that most adult tissues can be analyzed with this approach Using GAL4 lines expressed during oogenesis we have refined the system to examine the roles of vital loci in the development of the follicular epithelium We have identified essential genes involved in egg chamber organization cell migration and cell shape Further we have used this technique to gain insights into the role of the Drosophila EGF receptor pathway in establishing the egg axes Finally using different UAS FLP GAL4 and existing FRT lines we have built stocks that permit the analysis of approximately 95 of the genome in follicular mosaics
</context>
</instance>
<instance id="9643284.ab.8" pmid="9643284" alias="mosaic">
<answer instance="9643284.ab.8" senseid="M2"/>
<context>
title Genotype phenotype correlations in type 2 neurofibromatosis NF2 evidence for more severe disease associated with truncating mutations published erratum appears in J Med Genet 1999 Jan 36 1 87 title Blood samples from 125 unrelated families with classical type 2 neurofibromatosis NF2 with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene A further 17 families fulfilling modified criteria for NF2 have also been analysed Causative mutations have been identified in 54 43 classical families and six 35 of those fulfilling modified criteria Forty two cases from 38 families with truncating mutations had an average age at onset of symptoms of 19 years and diagnosis at 22 4 years Fifty one cases from 16 families with splice site mutations 15 from six missense mutations 18 from six and large deletions 18 from five had an average age of onset of 27 8 years and at diagnosis of 33 4 years Subjects with truncating mutations were significantly more likely to have symptoms before 20 years of age p lt 0 001 and to develop at least two symptomatic CNS tumours in addition to vestibular schwannoma before 30 years p lt 0 001 There were also significantly fewer multigenerational families with truncating mutations Four further truncating mutations were local in <head>mosaic</head> form local and were associated with milder disease than other similar mutations This large study has confirmed the previous impression that truncating mutations are associated with severe disease but caution has to be exercised in using mutation type to predict disease course
</context>
</instance>
<instance id="9714436.ab.4" pmid="9714436" alias="mosaics">
<answer instance="9714436.ab.4" senseid="M2"/>
<context>
title Mosaicism for full mutation and normal sized allele of the FMR1 gene a new case title The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene associated with hypermethylation of the proximal CpG island An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normal sized alleles These genotypes are more difficult to detect and if a PCR strategy alone is adopted they can be incorrectly identified We report on a fragile X man with severe phenotype and mosaicism for full mutation and a CGG 7 normal allele the shortest fragment reported as yet local in <head>mosaics</head> local This case of mosaicism as other similar cases previously reported suggests that the normal length allele can derive from a deletion during the same early stage of development in which the full mutation expansion also arose
</context>
</instance>
<instance id="9744320.ab.11" pmid="9744320" alias="mosaic">
<answer instance="9744320.ab.11" senseid="M2"/>
<context>
title DNA ploidy by image cytometry and karyotype in spontaneous abortion title We compared the DNA content DI by cell image analysis with the karyotype and morphological phenotype of paraffin embedded tissues from 51 spontaneous abortions The study included 21 cases with triploid 19 cases with diploid and 11 cases with aneuploid monosomic trisomic or mosaic karyotype Measurements were performed by image analysis on the trophoblastic and stromal cells of chorionic villi using 5 microm thick Feulgen stained sections At least 200 cells were analyzed Results were interpreted using DI ranges of 1 3 to 1 7 for triploid and 0 9 to 1 1 for a diploid profile All 21 cases with a cytogenetically confirmed triploid karyotype had DI values within the triploid range and all 19 cases with a diploid karyotype had DI values within the diploid range All of the trisomies and monosomies also had a DNA mass within the diploid range However eight cases with a triploid karyotype also had a peak in the diploid range one case with a diploid karyotype and one case with a trisomic karyotype each had an additional peak in the triploid range We did not find a morphological correlation either with image analysis or with karyotype We conclude that cell image analysis is a reliable method for detection of triploidy in spontaneous abortions This relatively rapid method allows visual discrimination of the areas to be analyzed avoids the problem of maternal cell contamination and may unmask local <head>mosaic</head> local karyotypes that would go unrecognized by cytogenetic studies alone
</context>
</instance>
</lexelt>
</corpus>