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['Cytotoxic', 'T', 'lymphocyte', '-', 'associated', 'antigen', '4', '(', 'CTLA', '-', '4', ',', 'also', 'known', 'as', 'CD152', ')', 'has', 'been', 'shown', 'to', 'play', 'a', 'major', 'role', 'in', 'the', 'regulation', 'of', 'T', 'cell', 'activation', '.']
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|
train-600
|
Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4, also known as CD152) has been shown to play a major role in the regulation of T cell activation.
| 0 |
['Its', 'membrane', 'expression', 'is', 'highly', 'regulated', 'by', 'endocytosis', 'and', 'trafficking', 'through', 'the', 'secretory', 'lysosome', 'pathway', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-601
|
Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway.
| 0 |
['Chediak', '-', 'Higashi', 'syndrome', '(', 'CHS', ')', 'is', 'an', 'inherited', 'disorder', 'caused', 'by', 'mutations', 'in', 'the', 'lysosomal', 'trafficking', 'regulator', 'gene', ',', 'LYST', '.']
|
[1, 2, 2, 2, 0, 1, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-602
|
Chediak-Higashi syndrome (CHS) is an inherited disorder caused by mutations in the lysosomal trafficking regulator gene, LYST.
| 1 |
['It', 'results', 'in', 'defective', 'membrane', 'targeting', 'of', 'the', 'proteins', 'present', 'in', 'secretory', 'lysosomes', ',', 'and', 'it', 'is', 'associated', 'with', 'a', 'variety', 'of', 'features', ',', 'including', 'a', 'lymphoproliferative', 'syndrome', 'with', 'hemophagocytosis', '.']
|
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|
train-603
|
It results in defective membrane targeting of the proteins present in secretory lysosomes, and it is associated with a variety of features, including a lymphoproliferative syndrome with hemophagocytosis.
| 1 |
['The', 'murine', 'equivalent', 'of', 'CHS', ',', 'beige', 'mice', ',', 'present', 'similar', 'characteristics', 'but', 'do', 'not', 'develop', 'the', 'lymphoproliferative', 'syndrome', '.']
|
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|
train-604
|
The murine equivalent of CHS, beige mice, present similar characteristics but do not develop the lymphoproliferative syndrome.
| 1 |
['We', 'show', 'herein', 'that', 'CTLA', '-', '4', 'is', 'present', 'in', 'enlarged', ',', 'abnormal', 'vesicles', 'in', 'CHS', 'T', 'cells', 'and', 'is', 'not', 'properly', 'expressed', 'at', 'the', 'cell', 'surface', 'after', 'T', 'cell', 'activation', ',', 'whereas', 'its', 'surface', 'expression', 'is', 'not', 'impaired', '.']
|
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|
train-605
|
We show herein that CTLA-4 is present in enlarged, abnormal vesicles in CHS T cells and is not properly expressed at the cell surface after T cell activation, whereas its surface expression is not impaired.
| 1 |
['It', 'is', 'therefore', 'proposed', 'that', 'the', 'defective', 'surface', 'expression', 'of', 'CTLA', '-', '4', 'by', 'CHS', 'T', 'cells', 'is', 'involved', 'in', 'the', 'generation', 'of', 'lymphoproliferative', 'disease', '.']
|
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|
train-606
|
It is therefore proposed that the defective surface expression of CTLA-4 by CHS T cells is involved in the generation of lymphoproliferative disease.
| 1 |
['This', 'observation', 'may', 'provide', 'insight', 'into', 'the', 'role', 'of', 'CTLA', '-', '4', 'in', 'humans', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-607
|
This observation may provide insight into the role of CTLA-4 in humans..
| 0 |
['Proteolipoprotein', 'gene', 'analysis', 'in', '82', 'patients', 'with', 'sporadic', 'Pelizaeus', '-', 'Merzbacher', 'Disease', ':', 'duplications', ',', 'the', 'major', 'cause', 'of', 'the', 'disease', ',', 'originate', 'more', 'frequently', 'in', 'male', 'germ', 'cells', ',', 'but', 'point', 'mutations', 'do', 'not', '.']
|
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|
train-608
|
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease:duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not.
| 1 |
['The', 'Clinical', 'European', 'Network', 'on', 'Brain', 'Dysmyelinating', 'Disease', '.']
|
[0, 0, 0, 0, 0, 1, 2, 2, 0]
|
train-609
|
The Clinical European Network on Brain Dysmyelinating Disease.
| 1 |
['Pelizaeus', '-', 'Merzbacher', 'Disease', '(', 'PMD', ')', 'is', 'an', 'X', '-', 'linked', 'developmental', 'defect', 'of', 'myelination', 'affecting', 'the', 'central', 'nervous', 'system', 'and', 'segregating', 'with', 'the', 'proteolipoprotein', '(', 'PLP', ')', 'locus', '.']
|
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|
train-610
|
Pelizaeus-Merzbacher Disease (PMD) is an X-linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein (PLP) locus.
| 1 |
['Investigating', '82', 'strictly', 'selected', 'sporadic', 'cases', 'of', 'PMD', ',', 'we', 'found', 'PLP', 'mutations', 'in', '77', '%', ';', 'complete', 'PLP', '-', 'gene', 'duplications', 'were', 'the', 'most', 'frequent', 'abnormality', '(', '62', '%', ')', ',', 'whereas', 'point', 'mutations', 'in', 'coding', 'or', 'splice', '-', 'site', 'regions', 'of', 'the', 'gene', 'were', 'involved', 'less', 'frequently', '(', '38', '%', ')', '.']
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|
train-611
|
Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%;complete PLP-gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%).
| 1 |
['We', 'analyzed', 'the', 'maternal', 'status', 'of', '56', 'cases', 'to', 'determine', 'the', 'origin', 'of', 'both', 'types', 'of', 'PLP', 'mutation', ',', 'since', 'this', 'is', 'relevant', 'to', 'genetic', 'counseling', '.']
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train-612
|
We analyzed the maternal status of 56 cases to determine the origin of both types of PLP mutation, since this is relevant to genetic counseling.
| 0 |
['In', 'the', '22', 'point', 'mutations', ',', '68', '%', 'of', 'mothers', 'were', 'heterozygous', 'for', 'the', 'mutation', ',', 'a', 'value', 'identical', 'to', 'the', 'two', '-', 'thirds', 'of', 'carrier', 'mothers', 'that', 'would', 'be', 'expected', 'if', 'there', 'were', 'an', 'equal', 'mutation', 'rate', 'in', 'male', 'and', 'female', 'germ', 'cells', '.']
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|
train-613
|
In the 22 point mutations, 68% of mothers were heterozygous for the mutation, a value identical to the two-thirds of carrier mothers that would be expected if there were an equal mutation rate in male and female germ cells.
| 0 |
['In', 'sharp', 'contrast', ',', 'among', 'the', '34', 'duplicated', 'cases', ',', '91', '%', 'of', 'mothers', 'were', 'carriers', ',', 'a', 'value', 'significantly', '(', 'chi2', '=', '9', '.', '20', ',', 'P', '<', '.', '01', ')', 'in', 'favor', 'of', 'a', 'male', 'bias', ',', 'with', 'an', 'estimation', 'of', 'the', 'male', '/', 'female', 'mutation', 'frequency', '(', 'k', ')', 'of', '9', '.']
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|
train-614
|
In sharp contrast, among the 34 duplicated cases, 91% of mothers were carriers, a value significantly (chi2=9. 20, P <. 01) in favor of a male bias, with an estimation of the male/female mutation frequency (k) of 9.
| 0 |
['3', '3', '.']
|
[0, 0, 0]
|
train-615
|
3 3.
| 0 |
['Moreover', ',', 'we', 'observed', 'the', 'occurrence', 'of', 'de', 'novo', 'mutations', 'between', 'parental', 'and', 'grandparental', 'generations', 'in', '17', 'three', '-', 'generation', 'families', ',', 'which', 'allowed', 'a', 'direct', 'estimation', 'of', 'the', 'k', 'value', '(', 'k', '=', '11', ')', '.']
|
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|
train-616
|
Moreover, we observed the occurrence of de novo mutations between parental and grandparental generations in 17 three-generation families, which allowed a direct estimation of the k value (k=11).
| 0 |
['Again', ',', 'a', 'significant', 'male', 'mutation', 'imbalance', 'was', 'observed', 'only', 'for', 'the', 'duplications', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-617
|
Again, a significant male mutation imbalance was observed only for the duplications.
| 0 |
['Chromosome', 'breakage', 'in', 'the', 'Prader', '-', 'Willi', 'and', 'Angelman', 'syndromes', 'involves', 'recombination', 'between', 'large', ',', 'transcribed', 'repeats', 'at', 'proximal', 'and', 'distal', 'breakpoints', '.']
|
[0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-618
|
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
| 1 |
['Prader', '-', 'Willi', 'syndrome', '(', 'PWS', ')', 'and', 'Angelman', 'syndrome', '(', 'AS', ')', 'are', 'distinct', 'neurobehavioral', 'disorders', 'that', 'most', 'often', 'arise', 'from', 'a', '4', '-', 'Mb', 'deletion', 'of', 'chromosome', '15q11', '-', 'q13', 'during', 'paternal', 'or', 'maternal', 'gametogenesis', ',', 'respectively', '.']
|
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|
train-619
|
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during paternal or maternal gametogenesis, respectively.
| 1 |
['At', 'a', 'de', 'novo', 'frequency', 'of', 'approximately', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0]
|
train-620
|
At a de novo frequency of approximately.
| 0 |
['67', '-', '1', '/', '10', ',', '000', 'births', ',', 'these', 'deletions', 'represent', 'a', 'common', 'structural', 'chromosome', 'change', 'in', 'the', 'human', 'genome', '.']
|
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|
train-621
|
67-1/10, 000 births, these deletions represent a common structural chromosome change in the human genome.
| 0 |
['To', 'elucidate', 'the', 'mechanism', 'underlying', 'these', 'events', ',', 'we', 'characterized', 'the', 'regions', 'that', 'contain', 'two', 'proximal', 'breakpoint', 'clusters', 'and', 'a', 'distal', 'cluster', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-622
|
To elucidate the mechanism underlying these events, we characterized the regions that contain two proximal breakpoint clusters and a distal cluster.
| 0 |
['Novel', 'DNA', 'sequences', 'potentially', 'associated', 'with', 'the', 'breakpoints', 'were', 'positionally', 'cloned', 'from', 'YACs', 'within', 'or', 'near', 'these', 'regions', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-623
|
Novel DNA sequences potentially associated with the breakpoints were positionally cloned from YACs within or near these regions.
| 0 |
['Analyses', 'of', 'rodent', '-', 'human', 'somatic', '-', 'cell', 'hybrids', ',', 'YAC', 'contigs', ',', 'and', 'FISH', 'of', 'normal', 'or', 'rearranged', 'chromosomes', '15', 'identified', 'duplicated', 'sequences', '(', 'the', 'END', 'repeats', ')', 'at', 'or', 'near', 'the', 'breakpoints', '.']
|
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|
train-624
|
Analyses of rodent-human somatic-cell hybrids, YAC contigs, and FISH of normal or rearranged chromosomes 15 identified duplicated sequences (the END repeats) at or near the breakpoints.
| 0 |
['The', 'END', '-', 'repeat', 'units', 'are', 'derived', 'from', 'large', 'genomic', 'duplications', 'of', 'a', 'novel', 'gene', '(', 'HERC2', ')', ',', 'many', 'copies', 'of', 'which', 'are', 'transcriptionally', 'active', 'in', 'germline', 'tissues', '.']
|
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|
train-625
|
The END-repeat units are derived from large genomic duplications of a novel gene (HERC2), many copies of which are transcriptionally active in germline tissues.
| 0 |
['One', 'of', 'five', 'PWS', '/', 'AS', 'patients', 'analyzed', 'to', 'date', 'has', 'an', 'identifiable', ',', 'rearranged', 'HERC2', 'transcript', 'derived', 'from', 'the', 'deletion', 'event', '.']
|
[0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-626
|
One of five PWS/AS patients analyzed to date has an identifiable, rearranged HERC2 transcript derived from the deletion event.
| 1 |
['We', 'postulate', 'that', 'the', 'END', 'repeats', 'flanking', '15q11', '-', 'q13', 'mediate', 'homologous', 'recombination', 'resulting', 'in', 'deletion', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-627
|
We postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion.
| 0 |
['Furthermore', ',', 'we', 'propose', 'that', 'active', 'transcription', 'of', 'these', 'repeats', 'in', 'male', 'and', 'female', 'germ', 'cells', 'may', 'facilitate', 'the', 'homologous', 'recombination', 'process', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-628
|
Furthermore, we propose that active transcription of these repeats in male and female germ cells may facilitate the homologous recombination process.
| 0 |
['Linkage', 'analysis', 'in', 'a', 'large', 'Brazilian', 'family', 'with', 'van', 'der', 'Woude', 'syndrome', 'suggests', 'the', 'existence', 'of', 'a', 'susceptibility', 'locus', 'for', 'cleft', 'palate', 'at', '17p11', '.', '2', '-', '11', '.', '1', '.']
|
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train-629
|
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11. 2-11. 1.
| 1 |
['van', 'der', 'Woude', 'syndrome', '(', 'VWS', ')', ',', 'which', 'has', 'been', 'mapped', 'to', '1q32', '-', '41', ',', 'is', 'characterized', 'by', 'pits', 'and', '/', 'or', 'sinuses', 'of', 'the', 'lower', 'lip', ',', 'cleft', 'lip', '/', 'palate', '(', 'CL', '/', 'P', ')', ',', 'cleft', 'palate', '(', 'CP', ')', ',', 'bifid', 'uvula', ',', 'and', 'hypodontia', '(', 'H', ')', '.']
|
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|
train-630
|
van der Woude syndrome (VWS), which has been mapped to 1q32-41, is characterized by pits and/or sinuses of the lower lip, cleft lip/palate (CL/P), cleft palate (CP), bifid uvula, and hypodontia (H).
| 1 |
['The', 'expression', 'of', 'VWS', ',', 'which', 'has', 'incomplete', 'penetrance', ',', 'is', 'highly', 'variable', '.']
|
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|
train-631
|
The expression of VWS, which has incomplete penetrance, is highly variable.
| 1 |
['Both', 'the', 'occurrence', 'of', 'CL', '/', 'P', 'and', 'CP', 'within', 'the', 'same', 'genealogy', 'and', 'a', 'recurrence', 'risk', '<', '40', '%', 'for', 'CP', 'among', 'descendants', 'with', 'VWS', 'have', 'suggested', 'that', 'the', 'development', 'of', 'clefts', 'in', 'this', 'syndrome', 'is', 'influenced', 'by', 'modifying', 'genes', 'at', 'other', 'loci', '.']
|
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|
train-632
|
Both the occurrence of CL/P and CP within the same genealogy and a recurrence risk<40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci.
| 1 |
['To', 'test', 'this', 'hypothesis', ',', 'we', 'have', 'conducted', 'linkage', 'analysis', 'in', 'a', 'large', 'Brazilian', 'kindred', 'with', 'VWS', ',', 'considering', 'as', 'affected', 'the', 'individuals', 'with', 'CP', ',', 'regardless', 'of', 'whether', 'it', 'is', 'associated', 'with', 'other', 'clinical', 'signs', 'of', 'VWS', '.']
|
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|
train-633
|
To test this hypothesis, we have conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it is associated with other clinical signs of VWS.
| 1 |
['Our', 'results', 'suggest', 'that', 'a', 'gene', 'at', '17p11', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-634
|
Our results suggest that a gene at 17p11.
| 0 |
['2', '-', '11', '2', '-', '11', '.']
|
[0, 0, 0, 0, 0, 0, 0]
|
train-635
|
2-11 2-11.
| 0 |
['1', ',', 'together', 'with', 'the', 'VWS', 'gene', 'at', '1p32', '-', '41', ',', 'enhances', 'the', 'probability', 'of', 'CP', 'in', 'an', 'individual', 'carrying', 'the', 'two', 'at', '-', 'risk', 'genes', '.']
|
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|
train-636
|
1, together with the VWS gene at 1p32-41, enhances the probability of CP in an individual carrying the two at-risk genes.
| 1 |
['If', 'this', 'hypothesis', 'is', 'confirmed', 'in', 'other', 'VWS', 'pedigrees', ',', 'it', 'will', 'represent', 'one', 'of', 'the', 'first', 'examples', 'of', 'a', 'gene', ',', 'mapped', 'through', 'linkage', 'analysis', ',', 'which', 'modifies', 'the', 'expression', 'of', 'a', 'major', 'gene', '.']
|
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|
train-637
|
If this hypothesis is confirmed in other VWS pedigrees, it will represent one of the first examples of a gene, mapped through linkage analysis, which modifies the expression of a major gene.
| 1 |
['New', 'mutations', ',', 'polymorphisms', ',', 'and', 'rare', 'variants', 'in', 'the', 'ATM', 'gene', 'detected', 'by', 'a', 'novel', 'SSCP', 'strategy', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-638
|
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
| 0 |
['The', 'gene', 'for', 'ataxia', '-', 'telangiectasia', ',', 'ATM', ',', 'spans', 'about', '150', 'kb', 'of', 'genomic', 'DNA', '.']
|
[0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-639
|
The gene for ataxia-telangiectasia, ATM, spans about 150 kb of genomic DNA.
| 1 |
['ATM', 'mutations', 'are', 'found', 'along', 'the', 'entire', 'gene', ',', 'with', 'no', 'evidence', 'of', 'a', 'mutational', 'hot', 'spot', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-640
|
ATM mutations are found along the entire gene, with no evidence of a mutational hot spot.
| 0 |
['Using', 'DNA', 'as', 'the', 'starting', 'material', ',', 'we', 'screened', 'the', 'ATM', 'gene', 'in', '92', 'A', '-', 'T', 'patients', ',', 'using', 'an', 'optimized', 'single', '-', 'strand', 'conformation', 'polymorphism', '(', 'SSCP', ')', 'technique', 'that', 'detected', 'all', 'previously', 'known', 'mutations', 'in', 'the', 'polymerase', 'chain', 'reaction', '(', 'PCR', ')', 'segments', 'being', 'analyzed', '.']
|
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|
train-641
|
Using DNA as the starting material, we screened the ATM gene in 92 A-T patients, using an optimized single-strand conformation polymorphism (SSCP) technique that detected all previously known mutations in the polymerase chain reaction (PCR) segments being analyzed.
| 1 |
['To', 'expedite', 'screening', ',', 'we', 'sequentially', 'loaded', 'the', 'SSCP', 'gels', 'with', 'three', 'different', 'sets', 'of', 'PCR', 'products', 'that', 'were', 'pretested', 'to', 'avoid', 'overlapping', 'patterns', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-642
|
To expedite screening, we sequentially loaded the SSCP gels with three different sets of PCR products that were pretested to avoid overlapping patterns.
| 0 |
['Many', 'of', 'the', 'DNA', 'changes', 'we', 'detected', 'were', 'intragenic', 'polymorphisms', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-643
|
Many of the DNA changes we detected were intragenic polymorphisms.
| 0 |
['Of', 'an', 'expected', '177', 'unknown', 'mutations', ',', 'we', 'detected', 'approximately', '70', '%', ',', 'mostly', 'protein', 'truncating', 'mutations', '(', 'that', 'would', 'have', 'been', 'detectable', 'by', 'protein', 'truncation', 'testing', 'if', 'RNA', 'starting', 'material', 'had', 'been', 'available', ')', '.']
|
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|
train-644
|
Of an expected 177 unknown mutations, we detected approximately 70%, mostly protein truncating mutations (that would have been detectable by protein truncation testing if RNA starting material had been available).
| 0 |
['Mutations', 'have', 'now', 'been', 'defined', 'for', 'every', 'exon', 'of', 'the', 'ATM', 'gene', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-645
|
Mutations have now been defined for every exon of the ATM gene.
| 0 |
['Herein', ',', 'we', 'present', '35', 'new', 'mutations', 'and', '34', 'new', 'intragenic', 'polymorphisms', 'or', 'rare', 'variants', 'within', 'the', 'ATM', 'gene', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-646
|
Herein, we present 35 new mutations and 34 new intragenic polymorphisms or rare variants within the ATM gene.
| 0 |
['This', 'is', 'the', 'most', 'comprehensive', 'compilation', 'of', 'ATM', 'polymorphisms', 'assembled', 'to', 'date', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-647
|
This is the most comprehensive compilation of ATM polymorphisms assembled to date.
| 0 |
['Defining', 'polymorphic', 'sites', 'as', 'well', 'as', 'mutations', 'in', 'the', 'ATM', 'gene', 'will', 'be', 'of', 'great', 'importance', 'in', 'designing', 'automated', 'methods', 'for', 'detecting', 'mutations', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-648
|
Defining polymorphic sites as well as mutations in the ATM gene will be of great importance in designing automated methods for detecting mutations..
| 0 |
['A', 'novel', 'frameshift', 'mutation', 'in', 'the', 'McLeod', 'syndrome', 'gene', 'in', 'a', 'Japanese', 'family', '.']
|
[0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0]
|
train-649
|
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
| 1 |
['We', 'report', 'a', 'novel', 'mutation', 'in', 'the', 'XK', 'gene', '(', 'XK', ')', 'in', 'a', 'Japanese', 'patient', 'with', 'McLeod', 'syndrome', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0]
|
train-650
|
We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome.
| 1 |
['A', '50', '-', 'year', '-', 'old', 'man', 'showed', 'progressive', 'muscular', 'atrophy', ',', 'choreic', 'movement', ',', 'elevated', 'level', 'of', 'serum', 'creatinine', 'kinase', ',', 'and', 'acanthocytosis', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0]
|
train-651
|
A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.
| 1 |
['The', 'expression', 'level', 'of', 'all', 'the', 'Kell', 'antigens', 'in', 'erythrocyte', 'was', 'decreased', 'and', 'molecular', 'analysis', 'revealed', 'a', 'single', '-', 'base', '(', 'T', ')', 'deletion', 'at', 'the', 'nucleotide', 'position', '1095', 'in', 'XK', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-652
|
The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK.
| 0 |
['This', 'deletion', 'caused', 'a', 'frameshift', 'in', 'translation', ',', 'leading', 'to', 'a', 'premature', 'stop', 'codon', 'at', 'the', 'amino', 'acid', 'position', '408', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-653
|
This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408.
| 0 |
['We', 'conclude', 'this', 'single', '-', 'base', 'deletion', 'causes', 'defective', 'Kx', 'protein', ',', 'which', 'is', 'responsible', 'for', 'the', 'McLeod', 'phenotype', 'in', 'this', 'patient', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0]
|
train-654
|
We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient..
| 1 |
['Association', 'of', 'BRCA1', 'with', 'the', 'hRad50', '-', 'hMre11', '-', 'p95', 'complex', 'and', 'the', 'DNA', 'damage', 'response', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-655
|
Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response.
| 0 |
['BRCA1', 'encodes', 'a', 'tumor', 'suppressor', 'that', 'is', 'mutated', 'in', 'familial', 'breast', 'and', 'ovarian', 'cancers', '.']
|
[0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0]
|
train-656
|
BRCA1 encodes a tumor suppressor that is mutated in familial breast and ovarian cancers.
| 1 |
['Here', ',', 'it', 'is', 'shown', 'that', 'BRCA1', 'interacts', 'in', 'vitro', 'and', 'in', 'vivo', 'with', 'hRad50', ',', 'which', 'forms', 'a', 'complex', 'with', 'hMre11', 'and', 'p95', '/', 'nibrin', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-657
|
Here, it is shown that BRCA1 interacts in vitro and in vivo with hRad50, which forms a complex with hMre11 and p95/nibrin.
| 0 |
['Upon', 'irradiation', ',', 'BRCA1', 'was', 'detected', 'in', 'discrete', 'foci', 'in', 'the', 'nucleus', ',', 'which', 'colocalize', 'with', 'hRad50', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-658
|
Upon irradiation, BRCA1 was detected in discrete foci in the nucleus, which colocalize with hRad50.
| 0 |
['Formation', 'of', 'irradiation', '-', 'induced', 'foci', 'positive', 'for', 'BRCA1', ',', 'hRad50', ',', 'hMre11', ',', 'or', 'p95', 'was', 'dramatically', 'reduced', 'in', 'HCC', '/', '1937', 'breast', 'cancer', 'cells', 'carrying', 'a', 'homozygous', 'mutation', 'in', 'BRCA1', 'but', 'was', 'restored', 'by', 'transfection', 'of', 'wild', '-', 'type', 'BRCA1', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-659
|
Formation of irradiation-induced foci positive for BRCA1, hRad50, hMre11, or p95 was dramatically reduced in HCC/1937 breast cancer cells carrying a homozygous mutation in BRCA1 but was restored by transfection of wild-type BRCA1.
| 1 |
['Ectopic', 'expression', 'of', 'wild', '-', 'type', ',', 'but', 'not', 'mutated', ',', 'BRCA1', 'in', 'these', 'cells', 'rendered', 'them', 'less', 'sensitive', 'to', 'the', 'DNA', 'damage', 'agent', ',', 'methyl', 'methanesulfonate', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-660
|
Ectopic expression of wild-type, but not mutated, BRCA1 in these cells rendered them less sensitive to the DNA damage agent, methyl methanesulfonate.
| 0 |
['These', 'data', 'suggest', 'that', 'BRCA1', 'is', 'important', 'for', 'the', 'cellular', 'responses', 'to', 'DNA', 'damage', 'that', 'are', 'mediated', 'by', 'the', 'hRad50', '-', 'hMre11', '-', 'p95', 'complex', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-661
|
These data suggest that BRCA1 is important for the cellular responses to DNA damage that are mediated by the hRad50-hMre11-p95 complex..
| 0 |
['Relationship', 'among', 'genotype', ',', 'biochemical', 'phenotype', ',', 'and', 'cognitive', 'performance', 'in', 'females', 'with', 'phenylalanine', 'hydroxylase', 'deficiency', ':', 'report', 'from', 'the', 'Maternal', 'Phenylketonuria', 'Collaborative', 'Study', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 1, 2, 0, 0, 0]
|
train-662
|
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency:report from the Maternal Phenylketonuria Collaborative Study.
| 1 |
['OBJECTIVE', 'To', 'examine', 'the', 'relationship', 'of', 'phenylalanine', 'hydroxylase', '(', 'PAH', ')', 'genotypes', 'to', 'biochemical', 'phenotype', 'and', 'cognitive', 'development', 'in', 'maternal', 'phenylketonuria', '(', 'PKU', ')', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0]
|
train-663
|
OBJECTIVE To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria (PKU).
| 1 |
['METHODOLOGY', 'PAH', 'gene', 'mutations', 'were', 'examined', 'in', '222', 'hyperphenylalaninemic', 'females', 'enrolled', 'in', 'the', 'Maternal', 'PKU', 'Collaborative', 'Study', '(', 'MPKUCS', ')', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0]
|
train-664
|
METHODOLOGY PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study (MPKUCS).
| 1 |
['A', 'total', 'of', '84', 'different', 'mutations', 'were', 'detected', ',', 'and', 'complete', 'genotype', 'was', 'obtained', 'in', '199', 'individuals', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-665
|
A total of 84 different mutations were detected, and complete genotype was obtained in 199 individuals.
| 0 |
['Based', 'on', 'previous', 'knowledge', 'about', 'mutation', '-', 'phenotype', 'associations', ',', '78', 'of', 'the', 'mutations', 'could', 'be', 'assigned', 'to', 'one', 'of', 'four', 'classes', 'of', 'severity', '(', 'severe', 'PKU', ',', 'moderate', 'PKU', ',', 'mild', 'PKU', ',', 'and', 'mild', 'hyperphenylalaninemia', '[', 'MHP', ']', ')', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 1, 0, 0, 1, 2, 0, 1, 0, 0, 0]
|
train-666
|
Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity (severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia [MHP]).
| 1 |
['Then', ',', '189', 'MPKUCS', 'subjects', 'were', 'grouped', 'according', 'to', 'the', 'various', 'combinations', 'of', 'mutation', 'classifications', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-667
|
Then, 189 MPKUCS subjects were grouped according to the various combinations of mutation classifications.
| 0 |
['The', 'sample', 'sizes', 'were', 'large', 'enough', 'for', 'statistical', 'testing', 'in', 'four', 'groups', 'with', 'at', 'least', 'one', 'mutation', 'that', 'completely', 'abolishes', 'enzyme', 'activity', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-668
|
The sample sizes were large enough for statistical testing in four groups with at least one mutation that completely abolishes enzyme activity.
| 0 |
['These', 'patients', 'are', 'considered', 'functionally', 'hemizygous', '.']
|
[0, 0, 0, 0, 0, 0, 0]
|
train-669
|
These patients are considered functionally hemizygous.
| 0 |
['RESULTS', 'The', 'biochemical', 'phenotype', 'predicted', 'from', 'the', 'genotype', 'in', 'functionally', 'hemizygous', 'patients', 'was', 'related', 'significantly', 'to', 'the', 'assigned', 'phenylalanine', 'level', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-670
|
RESULTS The biochemical phenotype predicted from the genotype in functionally hemizygous patients was related significantly to the assigned phenylalanine level.
| 0 |
['Cognitive', 'performance', '(', 'IQ', ')', 'was', 'also', 'significantly', 'related', 'to', 'genotype', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-671
|
Cognitive performance (IQ) was also significantly related to genotype.
| 0 |
['The', 'IQ', 'of', 'PAH', '-', 'deficient', 'mothers', 'with', 'a', 'severe', 'PKU', 'mutation', 'in', 'combination', 'with', 'a', 'MHP', 'mutation', 'or', 'a', 'mild', 'PKU', 'mutation', 'was', '99', 'and', '96', ',', 'respectively', ',', 'whereas', 'the', 'IQ', 'of', 'PKU', 'mothers', 'with', 'two', 'severe', 'PKU', 'mutations', 'or', 'with', 'one', 'severe', 'and', 'one', 'moderate', 'PKU', 'mutation', 'was', '83', 'and', '84', ',', 'respectively', '.']
|
[0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-672
|
The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively.
| 1 |
['Of', 'the', 'patients', 'with', 'PKU', ',', '92', '%', 'had', 'been', 'treated', 'during', 'childhood', '.']
|
[0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-673
|
Of the patients with PKU, 92% had been treated during childhood.
| 1 |
['Those', 'who', 'were', 'untreated', 'or', 'treated', 'late', 'had', 'lower', 'than', 'average', 'IQ', 'scores', 'for', 'their', 'group', 'of', 'mutation', 'combinations', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-674
|
Those who were untreated or treated late had lower than average IQ scores for their group of mutation combinations.
| 0 |
['Females', 'with', 'moderate', 'or', 'mild', 'PKU', 'who', 'were', 'treated', 'early', 'and', 'treated', 'for', '>', '6', 'years', 'showed', 'IQ', 'scores', '10', 'points', 'above', 'average', 'for', 'their', 'group', '.']
|
[0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-675
|
Females with moderate or mild PKU who were treated early and treated for>6 years showed IQ scores 10 points above average for their group.
| 1 |
['CONCLUSIONS', 'The', 'reproductive', 'outcome', 'in', 'maternal', 'phenylketonuria', 'is', 'dependent', 'on', 'prenatal', 'metabolic', 'control', 'and', 'postnatal', 'environmental', 'circumstances', '.']
|
[0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-676
|
CONCLUSIONS The reproductive outcome in maternal phenylketonuria is dependent on prenatal metabolic control and postnatal environmental circumstances.
| 1 |
['Both', 'factors', 'depend', 'on', 'the', 'intellectual', 'resources', 'of', 'the', 'mother', 'with', 'PKU', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0]
|
train-677
|
Both factors depend on the intellectual resources of the mother with PKU.
| 1 |
['The', 'significant', 'relationship', 'among', 'genotype', ',', 'biochemical', 'phenotype', ',', 'and', 'cognitive', 'performance', 'observed', 'in', 'the', 'present', 'study', 'is', 'of', 'importance', 'for', 'the', 'development', 'of', 'an', 'optimal', 'strategy', 'for', 'future', 'treatment', 'of', 'females', 'with', 'PKU', 'who', 'plan', 'pregnancy', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0]
|
train-678
|
The significant relationship among genotype, biochemical phenotype, and cognitive performance observed in the present study is of importance for the development of an optimal strategy for future treatment of females with PKU who plan pregnancy..
| 1 |
['Spinal', 'xanthomatosis', ':', 'a', 'variant', 'of', 'cerebrotendinous', 'xanthomatosis', '.']
|
[1, 2, 0, 0, 0, 0, 1, 2, 0]
|
train-679
|
Spinal xanthomatosis:a variant of cerebrotendinous xanthomatosis.
| 1 |
['We', 'describe', 'seven', 'Dutch', 'patients', 'from', 'six', 'families', 'with', 'a', 'slowly', 'progressive', ',', 'mainly', 'spinal', 'cord', 'syndrome', 'that', 'remained', 'for', 'many', 'years', 'the', 'sole', 'expression', 'of', 'cerebrotendinous', 'xanthomatosis', '(', 'CTX', ')', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0]
|
train-680
|
We describe seven Dutch patients from six families with a slowly progressive, mainly spinal cord syndrome that remained for many years the sole expression of cerebrotendinous xanthomatosis (CTX).
| 1 |
['MRI', 'demonstrated', 'white', 'matter', 'abnormalities', 'in', 'the', 'lateral', 'and', 'dorsal', 'columns', 'of', 'the', 'spinal', 'cord', '.']
|
[0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-681
|
MRI demonstrated white matter abnormalities in the lateral and dorsal columns of the spinal cord.
| 1 |
['Post', '-', 'mortem', 'examination', 'of', 'one', 'of', 'the', 'patients', 'showed', 'extensive', 'myelin', 'loss', 'in', 'these', 'columns', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-682
|
Post-mortem examination of one of the patients showed extensive myelin loss in these columns.
| 0 |
['An', 'array', 'of', 'genotypes', 'was', 'found', 'in', 'these', 'patients', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-683
|
An array of genotypes was found in these patients.
| 0 |
['We', 'conclude', 'that', 'spinal', 'xanthomatosis', 'is', 'a', 'clinical', 'and', 'radiological', 'separate', 'entity', 'of', 'CTX', 'that', 'should', 'be', 'included', 'in', 'the', 'differential', 'diagnosis', 'of', 'chronic', 'myelopathy', '.', '.']
|
[0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0]
|
train-684
|
We conclude that spinal xanthomatosis is a clinical and radiological separate entity of CTX that should be included in the differential diagnosis of chronic myelopathy..
| 1 |
['A', 'transgene', 'insertion', 'creating', 'a', 'heritable', 'chromosome', 'deletion', 'mouse', 'model', 'of', 'Prader', '-', 'Willi', 'and', 'angelman', 'syndromes', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0]
|
train-685
|
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes.
| 1 |
['Prader', '-', 'Willi', 'syndrome', '(', 'PWS', ')', 'and', 'Angelman', 'syndrome', '(', 'AS', ')', 'result', 'from', 'the', 'loss', 'of', 'function', 'of', 'imprinted', 'genes', 'in', 'human', 'chromosome', '15q11', '-', 'q13', '.']
|
[1, 2, 2, 2, 0, 1, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-686
|
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function of imprinted genes in human chromosome 15q11-q13.
| 1 |
['The', 'central', 'part', 'of', 'mouse', 'chromosome', '7', 'is', 'homologous', 'to', 'human', '15q11', '-', 'q13', ',', 'with', 'conservation', 'of', 'both', 'gene', 'order', 'and', 'imprinted', 'features', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-687
|
The central part of mouse chromosome 7 is homologous to human 15q11-q13, with conservation of both gene order and imprinted features.
| 0 |
['We', 'report', 'here', 'the', 'characterization', 'of', 'a', 'transgene', 'insertion', '(', 'Epstein', '-', 'Barr', 'virus', 'Latent', 'Membrane', 'Protein', '2A', ',', 'LMP2A', ')', 'into', 'mouse', 'chromosome', '7C', ',', 'which', 'has', 'resulted', 'in', 'mouse', 'models', 'for', 'PWS', 'and', 'AS', 'dependent', 'on', 'the', 'sex', 'of', 'the', 'transmitting', 'parent', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-688
|
We report here the characterization of a transgene insertion (Epstein-Barr virus Latent Membrane Protein 2A, LMP2A) into mouse chromosome 7C, which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent.
| 1 |
['Epigenotype', '(', 'allelic', 'expression', 'and', 'DNA', 'methylation', ')', 'and', 'fluorescence', 'in', 'situ', 'hybridization', 'analyses', 'indicate', 'that', 'the', 'transgene', '-', 'induced', 'mutation', 'has', 'generated', 'a', 'complete', 'deletion', 'of', 'the', 'PWS', '/', 'AS', '-', 'homologous', 'region', 'but', 'has', 'not', 'deleted', 'flanking', 'loci', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-689
|
Epigenotype (allelic expression and DNA methylation) and fluorescence in situ hybridization analyses indicate that the transgene-induced mutation has generated a complete deletion of the PWS/AS-homologous region but has not deleted flanking loci.
| 1 |
['Because', 'the', 'intact', 'chromosome', '7', ',', 'opposite', 'the', 'deleted', 'homolog', ',', 'maintains', 'the', 'correct', 'imprint', 'in', 'somatic', 'cells', 'of', 'PWS', 'and', 'AS', 'mice', 'and', 'establishes', 'the', 'correct', 'imprint', 'in', 'male', 'and', 'female', 'germ', 'cells', 'of', 'AS', 'mice', ',', 'homologous', 'association', 'and', 'replication', 'asynchrony', 'are', 'not', 'part', 'of', 'the', 'imprinting', 'mechanism', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-690
|
Because the intact chromosome 7, opposite the deleted homolog, maintains the correct imprint in somatic cells of PWS and AS mice and establishes the correct imprint in male and female germ cells of AS mice, homologous association and replication asynchrony are not part of the imprinting mechanism.
| 1 |
['This', 'heritable', '-', 'deletion', 'mouse', 'model', 'will', 'be', 'particularly', 'useful', 'for', 'the', 'identification', 'of', 'the', 'etiological', 'genes', 'and', 'mechanisms', ',', 'phenotypic', 'basis', ',', 'and', 'investigation', 'of', 'therapeutic', 'approaches', 'for', 'PWS', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0]
|
train-691
|
This heritable-deletion mouse model will be particularly useful for the identification of the etiological genes and mechanisms, phenotypic basis, and investigation of therapeutic approaches for PWS..
| 1 |
['Linkage', 'analysis', 'of', '5', 'novel', 'van', 'der', 'Woude', 'syndrome', 'kindreds', 'to', '1q32', '-', 'q41', 'markers', 'further', 'supports', 'locus', 'homogeneity', 'of', 'the', 'disease', 'trait', '.']
|
[0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-692
|
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.
| 1 |
['van', 'der', 'Woude', 'syndrome', '(', 'vWS', ',', 'MIM', '119300', ')', 'is', 'a', 'rare', 'autosomal', 'dominant', 'clefting', 'condition', 'with', 'cardinal', 'features', 'of', 'mucous', 'cysts', '(', 'lower', '-', 'lip', 'pits', ')', 'and', 'clefts', 'to', 'the', 'lip', 'and', '/', 'or', 'palate', '.']
|
[1, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 1, 2, 0, 1, 2, 2, 2, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0]
|
train-693
|
van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate.
| 1 |
['The', 'vWS', 'gene', 'has', 'been', 'assigned', 'to', 'a', 'locus', 'in', '1q32', '-', 'q41', 'by', 'linkage', 'analysis', 'and', 'physical', 'mapping', '.']
|
[0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-694
|
The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping.
| 1 |
['We', 'have', 'investigated', '5', 'novel', 'vWS', 'families', 'through', 'probands', 'attended', 'for', 'cleft', 'lip', 'and', '/', 'or', 'palate', 'repair', 'at', 'the', 'Department', 'of', 'Maxillofacial', 'Surgery', 'of', 'Hopital', 'Trousseau', ',', 'Paris', ',', 'in', 'order', 'to', 'tentatively', 'refine', 'the', 'genetic', 'map', 'of', 'the', 'vWS', 'region', 'in', '1q32', '-', 'q41', 'and', 'possibly', 'identify', 'unlinked', 'pedigrees', '.']
|
[0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-695
|
We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hopital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees.
| 1 |
['Linkage', 'analysis', 'was', 'carried', 'out', 'to', '6', 'microsatellite', 'markers', '(', 'D1S249', ',', 'D1S425', ',', 'D1S491', ',', 'D1S205', ',', 'D1S414', ',', 'D1S425', ')', ',', 'yielding', 'a', 'maximum', 'cumulative', 'LOD', 'score', 'of', 'Z', '=', '3', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-696
|
Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z=3.
| 0 |
['27', 'at', 'theta', '=', '0', '.']
|
[0, 0, 0, 0, 0, 0]
|
train-697
|
27 at theta=0.
| 0 |
['00', 'for', 'D1S245', '.']
|
[0, 0, 0, 0]
|
train-698
|
00 for D1S245.
| 0 |
['The', 'innermost', 'four', 'markers', 'were', 'found', 'to', 'be', 'tightly', 'linked', 'to', 'one', 'another', ',', 'with', 'no', 'evidence', 'for', 'recombination', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-699
|
The innermost four markers were found to be tightly linked to one another, with no evidence for recombination.
| 0 |
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