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['These', 'observations', 'provide', 'a', 'mechanistic', 'basis', 'for', 'the', 'A', '-', 'T', 'phenotype', 'and', 'lay', 'a', 'rational', 'foundation', 'for', 'therapeutic', 'intervention', '.', '.']
|
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|
train-800
|
These observations provide a mechanistic basis for the A-T phenotype and lay a rational foundation for therapeutic intervention..
| 1 |
['Recessively', 'inherited', 'multiple', 'epiphyseal', 'dysplasia', 'with', 'normal', 'stature', ',', 'club', 'foot', ',', 'and', 'double', 'layered', 'patella', 'caused', 'by', 'a', 'DTDST', 'mutation', '.']
|
[0, 0, 1, 2, 2, 0, 0, 0, 0, 1, 2, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0]
|
train-801
|
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
| 1 |
['We', 'have', 'observed', 'over', '25', 'different', 'mutations', 'in', 'the', 'diastrophic', 'dysplasia', 'sulphate', 'transporter', 'gene', '(', 'DTDST', ')', 'in', 'association', 'with', 'the', 'recessive', 'disorders', 'achondrogenesis', '1B', ',', 'atelosteogenesis', '2', ',', 'and', 'diastrophic', 'dysplasia', '.']
|
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|
train-802
|
We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.
| 1 |
['The', 'c862t', '(', 'R279W', ')', 'transition', 'is', 'the', 'most', 'common', 'mutation', 'in', 'non', '-', 'Finnish', 'patients', ',', 'but', 'in', 'these', 'disorders', 'it', 'is', 'usually', 'combined', 'with', 'other', 'DTDST', 'mutations', '.']
|
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|
train-803
|
The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations.
| 0 |
['We', 'had', 'not', 'seen', 'a', 'case', 'of', 'homozygosity', 'for', 'c862t', '(', 'R279W', ')', 'until', 'we', 'analysed', 'DNA', 'from', 'a', '36', 'year', 'old', 'male', 'with', 'tall', '-', 'normal', 'stature', '(', '180', 'cm', ')', 'who', 'asked', 'for', 'genetic', 'counselling', 'for', 'suspected', 'multiple', 'epiphyseal', 'dysplasia', '.']
|
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|
train-804
|
We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia.
| 1 |
['He', 'was', 'treated', 'for', 'club', 'foot', 'and', 'hip', 'dysplasia', 'at', 'birth', '.']
|
[0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 0, 0]
|
train-805
|
He was treated for club foot and hip dysplasia at birth.
| 1 |
['Skeletal', 'changes', 'consistent', 'with', 'multiple', 'epiphyseal', 'dysplasia', ',', 'with', 'the', 'peculiar', 'finding', 'of', 'a', 'double', 'layered', 'patella', ',', 'were', 'recognised', 'during', 'childhood', '.']
|
[0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0]
|
train-806
|
Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood.
| 1 |
['Cleft', 'palate', ',', 'swelling', 'of', 'the', 'ear', 'pinna', ',', 'and', 'hitch', 'hiker', 'thumb', 'were', 'absent', '.']
|
[1, 2, 0, 1, 2, 2, 2, 2, 0, 0, 1, 2, 2, 0, 0, 0]
|
train-807
|
Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent.
| 1 |
['He', 'was', 'found', 'to', 'be', 'homozygous', ',', 'and', 'both', 'healthy', 'parents', 'heterozygous', ',', 'for', 'the', 'R279W', 'mutation', 'in', 'DTDST', ',', 'and', 'his', 'fibroblasts', 'showed', 'a', 'sulphate', 'incorporation', 'defect', 'typical', 'of', 'DTDST', 'disorders', '.']
|
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|
train-808
|
He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders.
| 1 |
['Counselling', 'was', 'given', 'for', 'a', 'recessive', 'disorder', ',', 'thereby', 'considerably', 'reducing', 'the', 'probability', 'of', 'affected', 'offspring', '.']
|
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|
train-809
|
Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.
| 1 |
['Multiple', 'epiphyseal', 'dysplasia', 'is', 'more', 'frequently', 'caused', 'by', 'dominant', 'mutations', 'in', 'the', 'COMP', '(', 'EDM1', ',', 'McKusick', '132400', ')', 'and', 'COL9A2', 'genes', '(', 'EDM2', ',', 'McKusick', '600204', ')', '.']
|
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|
train-810
|
Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204).
| 1 |
['A', 'few', 'other', 'patients', 'and', 'families', 'with', 'features', 'similar', 'to', 'our', 'proband', 'have', 'been', 'described', 'previously', 'and', 'considered', 'to', 'have', 'autosomal', 'recessive', 'MED', '(', 'EDM4', ',', 'McKusick', '226900', ')', '.']
|
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|
train-811
|
A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900).
| 1 |
['This', 'observation', 'confirms', 'the', 'existence', 'of', 'this', 'entity', 'and', 'assigns', 'it', 'to', 'the', 'phenotypic', 'spectrum', 'associated', 'with', 'mutations', 'at', 'the', 'DTDST', 'locus', '.', '.']
|
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|
train-812
|
This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus..
| 0 |
['Homozygosity', 'for', 'a', 'novel', 'DTDST', 'mutation', 'in', 'a', 'child', 'with', 'a', "'", 'broad', 'bone', '-', 'platyspondylic', "'", 'variant', 'of', 'diastrophic', 'dysplasia', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0]
|
train-813
|
Homozygosity for a novel DTDST mutation in a child with a ' broad bone-platyspondylic ' variant of diastrophic dysplasia.
| 1 |
['Atypical', 'or', 'variant', 'forms', 'of', 'well', '-', 'known', 'chondrodysplasias', 'may', 'pose', 'diagnostic', 'problems', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0]
|
train-814
|
Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems.
| 1 |
['We', 'report', 'on', 'a', 'girl', 'with', 'clinical', 'features', 'suggesting', 'diastrophic', 'dysplasia', 'but', 'with', 'unusual', 'radiographic', 'features', 'including', 'severe', 'platyspondyly', ',', 'wide', 'metaphyses', ',', 'and', 'fibular', 'overgrowth', ',', 'which', 'are', 'partially', 'reminiscent', 'of', 'metatropic', 'dysplasia', '.']
|
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|
train-815
|
We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia.
| 1 |
['The', 'diagnosis', 'was', 'clarified', 'by', 'molecular', 'analysis', 'of', 'the', 'DTDST', 'gene', ',', 'which', 'revealed', 'homozygosity', 'for', 'a', 'previously', 'undescribed', 'mutation', 'leading', 'to', 'a', 'Q454P', 'substitution', 'in', 'the', '10th', 'transmembrane', 'domain', 'of', 'the', 'DTDST', 'sulfate', 'transporter', '.']
|
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|
train-816
|
The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.
| 0 |
['Molecular', 'analysis', 'may', 'be', 'of', 'particular', 'value', 'in', 'such', 'atypical', 'cases', '.', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-817
|
Molecular analysis may be of particular value in such atypical cases..
| 0 |
['The', 'type', 'of', 'somatic', 'mutation', 'at', 'APC', 'in', 'familial', 'adenomatous', 'polyposis', 'is', 'determined', 'by', 'the', 'site', 'of', 'the', 'germline', 'mutation', ':', 'a', 'new', 'facet', 'to', 'Knudson', "'", 's', "'", 'two', '-', 'hit', "'", 'hypothesis', '.']
|
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|
train-818
|
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation:a new facet to Knudson ' s ' two-hit ' hypothesis.
| 1 |
['APC', 'is', 'often', 'cited', 'as', 'a', 'prime', 'example', 'of', 'a', 'tumor', 'suppressor', 'gene', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0]
|
train-819
|
APC is often cited as a prime example of a tumor suppressor gene.
| 1 |
['Truncating', 'germline', 'and', 'somatic', 'mutations', '(', 'or', ',', 'infrequently', ',', 'allelic', 'loss', ')', 'occur', 'in', 'tumors', 'in', 'FAP', '(', 'familial', 'adenomatous', 'polyposis', ')', '.']
|
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|
train-820
|
Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial adenomatous polyposis).
| 1 |
['Most', 'sporadic', 'colorectal', 'cancers', 'also', 'have', 'two', 'APC', 'mutations', '.']
|
[0, 1, 2, 2, 0, 0, 0, 1, 0, 0]
|
train-821
|
Most sporadic colorectal cancers also have two APC mutations.
| 1 |
['Clues', 'from', 'attenuated', 'polyposis', ',', 'missense', 'germline', 'variants', 'with', 'mild', 'disease', 'and', 'the', 'somatic', 'mutation', 'cluster', 'region', '(', 'codons', '1', ',', '250', '-', '1', ',', '450', ')', 'indicate', ',', 'however', ',', 'that', 'APC', 'mutations', 'might', 'not', 'result', 'in', 'simple', 'loss', 'of', 'protein', 'function', '.']
|
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|
train-822
|
Clues from attenuated polyposis, missense germline variants with mild disease and the somatic mutation cluster region (codons 1, 250-1, 450) indicate, however, that APC mutations might not result in simple loss of protein function.
| 1 |
['We', 'have', 'found', 'that', 'FAP', 'patients', 'with', 'germline', 'APC', 'mutations', 'within', 'a', 'small', 'region', '(', 'codons', '1', ',', '194', '-', '1', ',', '392', 'at', 'most', ')', 'mainly', 'show', 'allelic', 'loss', 'in', 'their', 'colorectal', 'adenomas', ',', 'in', 'contrast', 'to', 'other', 'FAP', 'patients', ',', 'whose', 'second', 'hits', 'tend', 'to', 'occur', 'by', 'truncating', 'mutations', 'in', 'the', 'mutation', 'cluster', 'region', '.']
|
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|
train-823
|
We have found that FAP patients with germline APC mutations within a small region (codons 1, 194-1, 392 at most) mainly show allelic loss in their colorectal adenomas, in contrast to other FAP patients, whose second hits tend to occur by truncating mutations in the mutation cluster region.
| 1 |
['Our', 'results', 'indicate', 'that', 'different', 'APC', 'mutations', 'provide', 'cells', 'with', 'different', 'selective', 'advantages', ',', 'with', 'mutations', 'close', 'to', 'codon', '1', ',', '300', 'providing', 'the', 'greatest', 'advantage', '.']
|
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|
train-824
|
Our results indicate that different APC mutations provide cells with different selective advantages, with mutations close to codon 1, 300 providing the greatest advantage.
| 1 |
['Allelic', 'loss', 'is', 'selected', 'strongly', 'in', 'cells', 'with', 'one', 'mutation', 'near', 'codon', '1', ',', '300', '.']
|
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|
train-825
|
Allelic loss is selected strongly in cells with one mutation near codon 1, 300.
| 0 |
['A', 'different', 'germline', '-', 'somatic', 'APC', 'mutation', 'association', 'exists', 'in', 'FAP', 'desmoids', '.']
|
[0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 2, 0]
|
train-826
|
A different germline-somatic APC mutation association exists in FAP desmoids.
| 1 |
['APC', 'is', 'not', ',', 'therefore', ',', 'a', 'classical', 'tumor', 'suppressor', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0]
|
train-827
|
APC is not, therefore, a classical tumor suppressor.
| 1 |
['Our', 'findings', 'also', 'indicate', 'a', 'new', 'mechanism', 'for', 'disease', 'severity', 'if', 'a', 'broader', 'spectrum', 'of', 'mutations', 'is', 'selected', 'in', 'tumors', ',', 'the', 'somatic', 'mutation', 'rate', 'is', 'effectively', 'higher', 'and', 'more', 'tumors', 'grow', '.', '.']
|
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|
train-828
|
Our findings also indicate a new mechanism for disease severity if a broader spectrum of mutations is selected in tumors, the somatic mutation rate is effectively higher and more tumors grow..
| 1 |
['Mxi1', 'mutations', 'in', 'human', 'neurofibrosarcomas', '.']
|
[0, 0, 0, 0, 1, 0]
|
train-829
|
Mxi1 mutations in human neurofibrosarcomas.
| 1 |
['Mxi1', 'is', 'thought', 'to', 'negatively', 'regulate', 'Myc', 'function', 'and', 'may', 'therefore', 'be', 'a', 'potential', 'tumor', 'suppressor', 'gene', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0]
|
train-830
|
Mxi1 is thought to negatively regulate Myc function and may therefore be a potential tumor suppressor gene.
| 1 |
['Little', 'effort', 'has', 'yet', 'been', 'made', 'to', 'find', 'alterations', 'involving', 'this', 'gene', 'in', 'human', 'solid', 'tumors', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0]
|
train-831
|
Little effort has yet been made to find alterations involving this gene in human solid tumors.
| 1 |
['We', 'screened', '31', 'human', 'gastric', 'cancers', ',', '7', 'esophageal', 'cancers', ',', '85', 'bone', 'and', 'soft', 'tissue', 'tumors', 'of', 'various', 'types', ',', 'including', '4', 'neurofibrosarcomas', '.']
|
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|
train-832
|
We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas.
| 1 |
['We', 'also', 'examined', '29', 'human', 'tumor', 'cell', 'lines', 'consisting', 'of', '12', 'esophageal', 'cancers', ',', '7', 'glioma', '/', 'glioblastomas', 'and', '10', 'others', 'for', 'Mxi1', 'mutations', 'in', 'exons', '1', ',', '2', ',', '4', '(', 'HLH', 'domain', ')', ',', '5', 'and', '6', '.']
|
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|
train-833
|
We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6.
| 1 |
['Polymerase', 'chain', 'reaction', '-', 'single', '-', 'strand', 'conformation', 'polymorphism', '(', 'PCR', '-', 'SSCP', ')', 'and', 'subsequent', 'sequencing', 'revealed', 'three', 'distinct', 'polymorphisms', 'in', 'the', 'intron', '-', 'exon', 'boundary', 'upstream', 'from', 'exon', '6', '.']
|
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|
train-834
|
Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and subsequent sequencing revealed three distinct polymorphisms in the intron-exon boundary upstream from exon 6.
| 0 |
['We', 'discovered', 'a', 'missense', 'mutation', ',', 'GCA', 'to', 'GTA', '(', 'Ala', '54', 'Val', ')', ',', 'in', 'exon', '2', 'in', 'a', 'neurofibrosarcoma', 'patient', '(', 'case', '1', ')', ',', 'two', 'missense', 'mutations', ',', 'AAA', 'to', 'CAA', '(', 'Lys', '118', 'Gln', ')', 'and', 'GAA', 'to', 'GGA', '(', 'Glu', '154', 'Gly', ')', 'in', 'exon', '5', 'of', 'another', 'neurofibrosarcoma', 'patient', '(', 'case', '2', ')', ',', 'and', '3', 'amino', 'acid', 'substitutions', ',', 'GTG', 'to', 'GCG', '(', 'Val', '179', 'Ala', ')', ',', 'GTT', 'to', 'GCT', '(', 'Val', '181', 'Ala', ')', 'and', 'TTC', 'to', 'CTC', '(', 'Phe', '186', 'Leu', ')', ',', 'in', 'a', 'third', 'neurofibrosarcoma', 'patient', '(', 'case', '3', ')', '.']
|
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|
train-835
|
We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient (case 3).
| 1 |
['In', 'case', '3', ',', 'loss', 'of', 'heterozygosity', 'was', 'also', 'demonstrated', 'by', 'informative', '(', 'TTC', ')', '3', '/', '(', 'TTC', ')', '2', 'polymorphism', '.']
|
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train-836
|
In case 3, loss of heterozygosity was also demonstrated by informative (TTC) 3/(TTC) 2 polymorphism.
| 0 |
['Our', 'data', 'demonstrate', 'that', 'mutations', 'occur', 'in', 'the', 'Mxi1', 'gene', 'in', 'neurofibrosarcoma', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0]
|
train-837
|
Our data demonstrate that mutations occur in the Mxi1 gene in neurofibrosarcoma.
| 1 |
['Missense', 'mutations', 'in', 'the', 'functional', 'domain', 'of', 'Mxi1', 'in', 'these', 'cases', 'may', 'be', 'involved', 'in', 'the', 'pathogenesis', 'of', 'neurofibrosarcoma', '.', '.']
|
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|
train-838
|
Missense mutations in the functional domain of Mxi1 in these cases may be involved in the pathogenesis of neurofibrosarcoma..
| 1 |
['A', 'population', '-', 'based', 'study', 'of', 'the', 'clinical', 'expression', 'of', 'the', 'hemochromatosis', 'gene', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0]
|
train-839
|
A population-based study of the clinical expression of the hemochromatosis gene.
| 1 |
['BACKGROUND', 'AND', 'METHODS', 'Hereditary', 'hemochromatosis', 'is', 'associated', 'with', 'homozygosity', 'for', 'the', 'C282Y', 'mutation', 'in', 'the', 'hemochromatosis', '(', 'HFE', ')', 'gene', 'on', 'chromosome', '6', ',', 'elevated', 'serum', 'transferrin', 'saturation', ',', 'and', 'excess', 'iron', 'deposits', 'throughout', 'the', 'body', '.']
|
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|
train-840
|
BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.
| 1 |
['To', 'assess', 'the', 'prevalence', 'and', 'clinical', 'expression', 'of', 'the', 'HFE', 'gene', ',', 'we', 'conducted', 'a', 'population', '-', 'based', 'study', 'in', 'Busselton', ',', 'Australia', '.']
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|
train-841
|
To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia.
| 0 |
['In', '1994', ',', 'we', 'obtained', 'blood', 'samples', 'for', 'the', 'determination', 'of', 'serum', 'transferrin', 'saturation', 'and', 'ferritin', 'levels', 'and', 'the', 'presence', 'or', 'absence', 'of', 'the', 'C282Y', 'mutation', 'and', 'the', 'H63D', 'mutation', '(', 'which', 'may', 'contribute', 'to', 'increased', 'hepatic', 'iron', 'levels', ')', 'in', '3011', 'unrelated', 'white', 'adults', '.']
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|
train-842
|
In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults.
| 0 |
['We', 'evaluated', 'all', 'subjects', 'who', 'had', 'persistently', 'elevated', 'transferrin', '-', 'saturation', 'values', '(', '45', 'percent', 'or', 'higher', ')', 'or', 'were', 'homozygous', 'for', 'the', 'C282Y', 'mutation', '.']
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|
train-843
|
We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation.
| 0 |
['We', 'recommended', 'liver', 'biopsy', 'for', 'subjects', 'with', 'serum', 'ferritin', 'levels', 'of', '300', 'ng', 'per', 'milliliter', 'or', 'higher', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-844
|
We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher.
| 0 |
['The', 'subjects', 'were', 'followed', 'for', 'up', 'to', 'four', 'years', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-845
|
The subjects were followed for up to four years.
| 0 |
['RESULTS', 'Sixteen', 'of', 'the', 'subjects', '(', '0', '.', '5', 'percent', ')', 'were', 'homozygous', 'for', 'the', 'C282Y', 'mutation', ',', 'and', '424', '(', '14', '.', '1', 'percent', ')', 'were', 'heterozygous', '.']
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|
train-846
|
RESULTS Sixteen of the subjects (0. 5 percent) were homozygous for the C282Y mutation, and 424 (14. 1 percent) were heterozygous.
| 0 |
['The', 'serum', 'transferrin', 'saturation', 'was', '45', 'percent', 'or', 'higher', 'in', '15', 'of', 'the', '16', 'who', 'were', 'homozygous', ';', 'in', '1', 'subject', 'it', 'was', '43', 'percent', '.']
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|
train-847
|
The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous;in 1 subject it was 43 percent.
| 0 |
['Four', 'of', 'the', 'homozygous', 'subjects', 'had', 'previously', 'been', 'given', 'a', 'diagnosis', 'of', 'hemochromatosis', ',', 'and', '12', 'had', 'not', '.']
|
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|
train-848
|
Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not.
| 1 |
['Seven', 'of', 'these', '12', 'patients', 'had', 'elevated', 'serum', 'ferritin', 'levels', 'in', '1994', ';', '6', 'of', 'the', '7', 'had', 'further', 'increases', 'in', '1998', ',', 'and', '1', 'had', 'a', 'decrease', ',', 'although', 'the', 'value', 'remained', 'elevated', '.']
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|
train-849
|
Seven of these 12 patients had elevated serum ferritin levels in 1994;6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated.
| 0 |
['The', 'serum', 'ferritin', 'levels', 'in', 'the', 'four', 'other', 'homozygous', 'patients', 'remained', 'in', 'the', 'normal', 'range', '.']
|
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|
train-850
|
The serum ferritin levels in the four other homozygous patients remained in the normal range.
| 0 |
['Eleven', 'of', 'the', '16', 'homozygous', 'subjects', 'underwent', 'liver', 'biopsy', ';', '3', 'had', 'hepatic', 'fibrosis', ',', 'and', '1', ',', 'who', 'had', 'a', 'history', 'of', 'excessive', 'alcohol', 'consumption', ',', 'had', 'cirrhosis', 'and', 'mild', 'microvesicular', 'steatosis', '.']
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|
train-851
|
Eleven of the 16 homozygous subjects underwent liver biopsy;3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis.
| 1 |
['Eight', 'of', 'the', '16', 'homozygous', 'subjects', 'had', 'clinical', 'findings', 'that', 'were', 'consistent', 'with', 'the', 'presence', 'of', 'hereditary', 'hemochromatosis', ',', 'such', 'as', 'hepatomegaly', ',', 'skin', 'pigmentation', ',', 'and', 'arthritis', '.']
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|
train-852
|
Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis.
| 1 |
['CONCLUSIONS', 'In', 'a', 'population', 'of', 'white', 'adults', 'of', 'northern', 'European', 'ancestry', ',', '0', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-853
|
CONCLUSIONS In a population of white adults of northern European ancestry, 0.
| 0 |
['5', 'percent', 'were', 'homozygous', 'for', 'the', 'C282Y', 'mutation', 'in', 'the', 'HFE', 'gene', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-854
|
5 percent were homozygous for the C282Y mutation in the HFE gene.
| 0 |
['However', ',', 'only', 'half', 'of', 'those', 'who', 'were', 'homozygous', 'had', 'clinical', 'features', 'of', 'hemochromatosis', ',', 'and', 'one', 'quarter', 'had', 'serum', 'ferritin', 'levels', 'that', 'remained', 'normal', 'over', 'a', 'four', '-', 'year', 'period', '.']
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|
train-855
|
However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period.
| 1 |
['Large', 'heterozygous', 'deletion', 'masquerading', 'as', 'homozygous', 'missense', 'mutation', ':', 'a', 'pitfall', 'in', 'diagnostic', 'mutation', 'analysis', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-856
|
Large heterozygous deletion masquerading as homozygous missense mutation:a pitfall in diagnostic mutation analysis.
| 0 |
['The', 'clinical', 'use', 'of', 'molecular', 'analyses', 'in', 'recessive', 'disorders', 'relies', 'on', 'the', 'exact', 'characterization', 'of', 'both', 'mutant', 'alleles', 'in', 'the', 'affected', 'patient', '.']
|
[0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-857
|
The clinical use of molecular analyses in recessive disorders relies on the exact characterization of both mutant alleles in the affected patient.
| 1 |
['This', 'can', 'be', 'problematic', 'when', 'only', 'part', 'of', 'the', 'gene', 'is', 'examined', 'or', 'when', 'relevant', 'DNA', 'alterations', 'are', 'not', 'recognized', 'by', 'standard', 'methods', '.']
|
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|
train-858
|
This can be problematic when only part of the gene is examined or when relevant DNA alterations are not recognized by standard methods.
| 0 |
['We', 'present', 'a', 'child', 'in', 'whom', 'phenylketonuria', 'was', 'apparently', 'caused', 'by', 'homozygosity', 'for', 'the', 'mutation', 'E390G', 'in', 'exon', '11', 'of', 'the', 'phenylalanine', 'hydroxylase', '(', 'PAH', ')', 'gene', '.']
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|
train-859
|
We present a child in whom phenylketonuria was apparently caused by homozygosity for the mutation E390G in exon 11 of the phenylalanine hydroxylase (PAH) gene.
| 1 |
['However', ',', 'the', 'clinical', 'severity', 'of', 'the', 'disease', 'was', 'not', 'quite', 'as', 'mild', 'as', 'expected', ',', 'the', 'mutation', 'was', 'not', 'identified', 'in', 'the', 'father', 'despite', 'confirmed', 'paternity', ',', 'and', 'the', 'paternal', 'allele', 'showed', 'a', 'highly', 'unusual', 'pattern', 'of', 'polymorphic', 'markers', 'in', 'the', 'PAH', 'gene', '.']
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|
train-860
|
However, the clinical severity of the disease was not quite as mild as expected, the mutation was not identified in the father despite confirmed paternity, and the paternal allele showed a highly unusual pattern of polymorphic markers in the PAH gene.
| 0 |
['Presence', 'of', 'a', 'large', 'deletion', 'involving', 'exons', '9', ',', '10', 'and', '11', 'of', 'the', 'phenylalanine', 'hydroxylase', 'gene', 'was', 'confirmed', 'by', 'long', '-', 'range', 'PCR', '.']
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|
train-861
|
Presence of a large deletion involving exons 9, 10 and 11 of the phenylalanine hydroxylase gene was confirmed by long-range PCR.
| 0 |
['Diagnostic', 'DNA', 'analyses', 'should', 'include', 'a', 'comprehensive', 'examination', 'of', 'the', 'whole', 'relevant', 'gene', 'in', 'the', 'patient', 'and', 'confirmation', 'of', 'carrier', 'status', 'in', 'both', 'parents', '.', '.']
|
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|
train-862
|
Diagnostic DNA analyses should include a comprehensive examination of the whole relevant gene in the patient and confirmation of carrier status in both parents..
| 0 |
['Early', 'onset', 'of', 'X', '-', 'linked', 'Emery', '-', 'Dreifuss', 'muscular', 'dystrophy', 'in', 'a', 'boy', 'with', 'emerin', 'gene', 'deletion', '.']
|
[0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-863
|
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
| 1 |
['A', 'boy', 'developed', 'contractures', 'of', 'the', 'Achilles', 'tendons', 'at', '3', 'years', 'and', 'of', 'the', 'postcervical', 'muscles', 'at', '7', 'years', ',', 'although', 'neither', 'contractures', 'of', 'the', 'elbows', 'nor', 'cardiac', 'abnormality', 'were', 'recognized', 'by', 'the', 'age', 'of', '9', 'years', '.']
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|
train-864
|
A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years.
| 1 |
['Muscle', 'computed', 'tomography', 'scanning', 'revealed', 'changes', 'characteristic', 'of', 'muscle', 'involvement', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-865
|
Muscle computed tomography scanning revealed changes characteristic of muscle involvement.
| 0 |
['Emerin', 'was', 'not', 'detected', 'in', 'the', 'biopsied', 'muscle', ',', 'and', 'RT', '-', 'PCR', 'and', 'PCR', '-', 'based', 'genomic', 'DNA', 'analyses', 'of', 'the', 'emerin', 'gene', 'demonstrated', 'no', 'amplification', 'product', 'in', 'the', 'patient', '.']
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|
train-866
|
Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DNA analyses of the emerin gene demonstrated no amplification product in the patient.
| 0 |
['These', 'results', 'confirmed', 'the', 'diagnosis', 'of', 'X', '-', 'linked', 'Emery', '-', 'Dreifuss', 'muscular', 'dystrophy', '(', 'EDMD', ')', ',', 'and', 'reinforce', 'the', 'necessity', 'of', 'molecular', 'genetic', 'diagnosis', 'of', 'the', 'membrane', 'protein', 'emerin', 'in', 'younger', 'patients', 'with', 'possible', 'EDMD', 'before', 'appearance', 'of', 'the', 'typical', 'symptoms', ',', 'to', 'avoid', 'sudden', 'cardiac', 'death', '.', '.']
|
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|
train-867
|
These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death..
| 1 |
['Duchenne', '/', 'Becker', 'muscular', 'dystrophy', ':', 'correlation', 'of', 'phenotype', 'by', 'electroretinography', 'with', 'sites', 'of', 'dystrophin', 'mutations', '.']
|
[1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-868
|
Duchenne/Becker muscular dystrophy:correlation of phenotype by electroretinography with sites of dystrophin mutations.
| 1 |
['The', 'dark', '-', 'adapted', 'electroretinogram', '(', 'ERG', ')', 'of', 'patients', 'with', 'Duchenne', 'and', 'Becker', 'muscular', 'dystrophy', '(', 'DMD', '/', 'BMD', ')', 'shows', 'a', 'marked', 'reduction', 'in', 'b', '-', 'wave', 'amplitude', '.']
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|
train-869
|
The dark-adapted electroretinogram (ERG) of patients with Duchenne and Becker muscular dystrophy (DMD/BMD) shows a marked reduction in b-wave amplitude.
| 1 |
['Genotype', '-', 'phenotype', 'studies', 'of', 'mouse', 'models', 'for', 'DMD', 'show', 'position', '-', 'specific', 'effects', 'of', 'the', 'mutations', 'upon', 'the', 'phenotype', 'mice', 'with', '5', 'defects', 'of', 'dystrophin', 'have', 'normal', 'ERGs', ',', 'those', 'with', 'defects', 'in', 'the', 'central', 'region', 'have', 'a', 'normal', 'b', '-', 'wave', 'amplitude', 'associated', 'with', 'prolonged', 'implicit', 'times', 'for', 'both', 'the', 'b', '-', 'wave', 'and', 'oscillatory', 'potentials', ',', 'and', 'mice', 'with', '3', 'defects', 'have', 'a', 'phenotype', 'similar', 'to', 'that', 'seen', 'in', 'DMD', '/', 'BMD', 'patients', '.']
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|
train-870
|
Genotype-phenotype studies of mouse models for DMD show position-specific effects of the mutations upon the phenotype mice with 5 defects of dystrophin have normal ERGs, those with defects in the central region have a normal b-wave amplitude associated with prolonged implicit times for both the b-wave and oscillatory potentials, and mice with 3 defects have a phenotype similar to that seen in DMD/BMD patients.
| 1 |
['The', 'mouse', 'studies', 'suggest', 'a', 'key', 'role', 'for', 'the', 'carboxyl', 'terminal', 'dystrophin', 'isoform', ',', 'Dp260', ',', 'in', 'retinal', 'electrophysiology', '.']
|
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|
train-871
|
The mouse studies suggest a key role for the carboxyl terminal dystrophin isoform, Dp260, in retinal electrophysiology.
| 0 |
['We', 'have', 'undertaken', 'a', 'systematic', 'evaluation', 'of', 'DMD', '/', 'BMD', 'patients', 'through', 'clinical', 'examination', 'and', 'review', 'of', 'the', 'literature', 'in', 'order', 'to', 'determine', 'whether', 'the', 'position', '-', 'specific', 'effects', 'of', 'mutations', 'noted', 'in', 'the', 'mouse', 'are', 'present', 'in', 'man', '.']
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|
train-872
|
We have undertaken a systematic evaluation of DMD/BMD patients through clinical examination and review of the literature in order to determine whether the position-specific effects of mutations noted in the mouse are present in man.
| 1 |
['We', 'have', 'found', 'that', ',', 'in', 'man', ',', 'a', 'wider', 'variation', 'of', 'DMD', 'defects', 'correlate', 'with', 'reductions', 'in', 'the', 'b', '-', 'wave', 'amplitude', '.']
|
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|
train-873
|
We have found that, in man, a wider variation of DMD defects correlate with reductions in the b-wave amplitude.
| 1 |
['Individuals', 'with', 'normal', 'ERGs', 'have', 'mutations', 'predominantly', 'located', '5', 'of', 'the', 'transcript', 'initiation', 'site', 'of', 'Dp260', '.']
|
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|
train-874
|
Individuals with normal ERGs have mutations predominantly located 5 of the transcript initiation site of Dp260.
| 0 |
['Our', 'results', 'suggest', 'that', 'the', 'most', 'important', 'determinant', 'in', 'the', 'ERG', 'b', '-', 'wave', 'phenotype', 'is', 'the', 'mutation', 'position', ',', 'rather', 'than', 'muscle', 'disease', 'severity', '.']
|
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|
train-875
|
Our results suggest that the most important determinant in the ERG b-wave phenotype is the mutation position, rather than muscle disease severity.
| 1 |
['Forty', '-', 'six', 'per', 'cent', 'of', 'patients', 'with', 'mutations', '5', 'of', 'the', 'Dp260', 'transcript', 'start', 'site', 'have', 'abnormal', 'ERGs', ',', 'as', 'opposed', 'to', '94', '%', 'with', 'more', 'distal', 'mutations', '.']
|
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|
train-876
|
Forty-six per cent of patients with mutations 5 of the Dp260 transcript start site have abnormal ERGs, as opposed to 94% with more distal mutations.
| 0 |
['The', 'human', 'genotype', '-', 'phenotype', 'correlations', 'are', 'consistent', 'with', 'a', 'role', 'for', 'Dp260', 'in', 'normal', 'retinal', 'electrophysiology', 'and', 'may', 'also', 'reflect', 'the', 'expression', 'of', 'other', 'C', '-', 'terminal', 'dystrophin', 'isoforms', 'and', 'their', 'contributions', 'to', 'retinal', 'signal', 'transmission', '.', '.']
|
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|
train-877
|
The human genotype-phenotype correlations are consistent with a role for Dp260 in normal retinal electrophysiology and may also reflect the expression of other C-terminal dystrophin isoforms and their contributions to retinal signal transmission..
| 0 |
['Cis', 'and', 'trans', 'effects', 'of', 'the', 'myotonic', 'dystrophy', '(', 'DM', ')', 'mutation', 'in', 'a', 'cell', 'culture', 'model', '.']
|
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|
train-878
|
Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.
| 1 |
['The', 'mutation', 'causing', 'myotonic', 'dystrophy', '(', 'DM', ')', 'has', 'been', 'identified', 'as', 'a', 'CTG', 'expansion', 'in', 'the', '3', '-', 'untranslated', 'region', '(', '3', '-', 'UTR', ')', 'of', 'the', 'DM', 'protein', 'kinase', 'gene', '(', 'DMPK', ')', ',', 'but', 'the', 'mechanism', '(', 's', ')', 'of', 'pathogenesis', 'remain', 'unknown', '.']
|
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|
train-879
|
The mutation causing myotonic dystrophy (DM) has been identified as a CTG expansion in the 3-untranslated region (3-UTR) of the DM protein kinase gene (DMPK), but the mechanism (s) of pathogenesis remain unknown.
| 1 |
['Studies', 'using', 'DM', 'patient', 'materials', 'have', 'often', 'produced', 'confusing', 'results', '.']
|
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|
train-880
|
Studies using DM patient materials have often produced confusing results.
| 1 |
['Therefore', ',', 'to', 'study', 'the', 'effects', 'of', 'the', 'DM', 'mutation', 'in', 'a', 'controlled', 'environment', ',', 'we', 'have', 'established', 'a', 'cell', 'culture', 'model', 'system', 'using', 'C2C12', 'mouse', 'myoblasts', '.']
|
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|
train-881
|
Therefore, to study the effects of the DM mutation in a controlled environment, we have established a cell culture model system using C2C12 mouse myoblasts.
| 1 |
['By', 'expressing', 'chimeric', 'reporter', 'constructs', 'containing', 'a', 'reporter', 'gene', 'fused', 'to', 'a', 'human', 'DMPK', '3', '-', 'UTR', ',', 'we', 'identified', 'both', 'cis', 'and', 'trans', 'effects', 'that', 'are', 'mediated', 'by', 'the', 'DM', 'mutation', '.']
|
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|
train-882
|
By expressing chimeric reporter constructs containing a reporter gene fused to a human DMPK 3-UTR, we identified both cis and trans effects that are mediated by the DM mutation.
| 1 |
['Our', 'data', 'show', 'that', 'a', 'mutant', 'DMPK', '3', '-', 'UTR', ',', 'with', 'as', 'few', 'as', '57', 'CTGs', ',', 'had', 'a', 'negative', 'cis', 'effect', 'on', 'protein', 'expression', 'and', 'resulted', 'in', 'the', 'aggregation', 'of', 'reporter', 'transcripts', 'into', 'discrete', 'nuclear', 'foci', '.']
|
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|
train-883
|
Our data show that a mutant DMPK 3-UTR, with as few as 57 CTGs, had a negative cis effect on protein expression and resulted in the aggregation of reporter transcripts into discrete nuclear foci.
| 0 |
['We', 'determined', 'by', 'deletion', 'analysis', 'that', 'an', 'expanded', '(', 'CTG', ')', '(', 'n', ')', 'tract', 'alone', 'was', 'sufficient', 'to', 'mediate', 'these', 'cis', 'effects', '.']
|
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|
train-884
|
We determined by deletion analysis that an expanded (CTG) (n) tract alone was sufficient to mediate these cis effects.
| 0 |
['Furthermore', ',', 'in', 'contrast', 'to', 'the', 'normal', 'DMPK', '3', '-', 'UTR', 'mRNA', ',', 'a', 'mutant', 'DMPK', '3', '-', 'UTR', 'mRNA', 'with', '(', 'CUG', ')', '(', '200', ')', 'selectively', 'inhibited', 'myogenic', 'differentiation', 'of', 'C2C12', 'myoblasts', '.']
|
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|
train-885
|
Furthermore, in contrast to the normal DMPK 3-UTR mRNA, a mutant DMPK 3-UTR mRNA with (CUG) (200) selectively inhibited myogenic differentiation of C2C12 myoblasts.
| 0 |
['Genetic', 'analysis', 'and', 'the', 'Cre', '-', 'loxP', 'system', 'were', 'used', 'to', 'clearly', 'demonstrate', 'that', 'the', 'myoblast', 'fusion', 'defect', 'could', 'be', 'rescued', 'by', 'eliminating', 'the', 'expression', 'of', 'the', 'mutant', 'DMPK', '3', '-', 'UTR', 'transcript', '.']
|
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|
train-886
|
Genetic analysis and the Cre-loxP system were used to clearly demonstrate that the myoblast fusion defect could be rescued by eliminating the expression of the mutant DMPK 3-UTR transcript.
| 0 |
['Characterization', 'of', 'spontaneous', 'deletion', 'events', 'mapped', 'the', 'inhibitory', 'effect', 'to', 'the', '(', 'CTG', ')', '(', 'n', ')', 'expansion', 'and', '/', 'or', 'the', '3', 'end', 'of', 'the', 'DMPK', '3', '-', 'UTR', '.']
|
[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-887
|
Characterization of spontaneous deletion events mapped the inhibitory effect to the (CTG) (n) expansion and/or the 3 end of the DMPK 3-UTR.
| 0 |
['These', 'results', 'provide', 'evidence', 'that', 'the', 'DM', 'mutation', 'acts', 'in', 'cis', 'to', 'reduce', 'protein', 'production', '(', 'consistent', 'with', 'DMPK', 'haploinsufficiency', ')', 'and', 'in', 'trans', 'as', 'a', 'riboregulator', 'to', 'inhibit', 'myogenesis', '.', '.']
|
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|
train-888
|
These results provide evidence that the DM mutation acts in cis to reduce protein production (consistent with DMPK haploinsufficiency) and in trans as a riboregulator to inhibit myogenesis..
| 1 |
['Coats', "'", 'disease', 'of', 'the', 'retina', '(', 'unilateral', 'retinal', 'telangiectasis', ')', 'caused', 'by', 'somatic', 'mutation', 'in', 'the', 'NDP', 'gene', ':', 'a', 'role', 'for', 'norrin', 'in', 'retinal', 'angiogenesis', '.']
|
[1, 2, 2, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-889
|
Coats ' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene:a role for norrin in retinal angiogenesis.
| 1 |
['Coats', 'disease', 'is', 'characterized', 'by', 'abnormal', 'retinal', 'vascular', 'development', '(', 'so', '-', 'called', 'retinal', 'telangiectasis', ')', 'which', 'results', 'in', 'massive', 'intraretinal', 'and', 'subretinal', 'lipid', 'accumulation', '(', 'exudative', 'retinal', 'detachment', ')', '.']
|
[1, 2, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 2, 2, 0, 0]
|
train-890
|
Coats disease is characterized by abnormal retinal vascular development (so-called retinal telangiectasis) which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment).
| 1 |
['The', 'classical', 'form', 'of', 'Coats', 'disease', 'is', 'almost', 'invariably', 'isolated', ',', 'unilateral', 'and', 'seen', 'in', 'males', '.']
|
[0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-891
|
The classical form of Coats disease is almost invariably isolated, unilateral and seen in males.
| 1 |
['A', 'female', 'with', 'a', 'unilateral', 'variant', 'of', 'Coats', 'disease', 'gave', 'birth', 'to', 'a', 'son', 'affected', 'by', 'Norrie', 'disease', '.']
|
[0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0]
|
train-892
|
A female with a unilateral variant of Coats disease gave birth to a son affected by Norrie disease.
| 1 |
['Both', 'carried', 'a', 'missense', 'mutation', 'within', 'the', 'NDP', 'gene', 'on', 'chromosome', 'Xp11', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-893
|
Both carried a missense mutation within the NDP gene on chromosome Xp11.
| 0 |
['2', '2', '.']
|
[0, 0, 0]
|
train-894
|
2 2.
| 0 |
['Subsequently', 'analysis', 'of', 'the', 'retinas', 'of', 'nine', 'enucleated', 'eyes', 'from', 'males', 'with', 'Coats', 'disease', 'demonstrated', 'in', 'one', 'a', 'somatic', 'mutation', 'in', 'the', 'NDP', 'gene', 'which', 'was', 'not', 'present', 'within', 'non', '-', 'retinal', 'tissue', '.']
|
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|
train-895
|
Subsequently analysis of the retinas of nine enucleated eyes from males with Coats disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue.
| 1 |
['We', 'suggest', 'that', 'Coats', 'telangiectasis', 'is', 'secondary', 'to', 'somatic', 'mutation', 'in', 'the', 'NDP', 'gene', 'which', 'results', 'in', 'a', 'deficiency', 'of', 'norrin', '(', 'the', 'protein', 'product', 'of', 'the', 'NDP', 'gene', ')', 'within', 'the', 'developing', 'retina', '.']
|
[0, 0, 0, 1, 2, 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, 0, 0, 0, 0, 0]
|
train-896
|
We suggest that Coats telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina.
| 1 |
['This', 'supports', 'recent', 'observations', 'that', 'the', 'protein', 'is', 'critical', 'for', 'normal', 'retinal', 'vasculogenesis', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0]
|
train-897
|
This supports recent observations that the protein is critical for normal retinal vasculogenesis.
| 0 |
['Hereditary', 'TP53', 'codon', '292', 'and', 'somatic', 'P16INK4A', 'codon', '94', 'mutations', 'in', 'a', 'Li', '-', 'Fraumeni', 'syndrome', 'family', '.']
|
[0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0]
|
train-898
|
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
| 1 |
['Li', '-', 'Fraumeni', 'syndrome', 'is', 'an', 'autosomal', 'dominant', 'disorder', 'that', 'is', 'characterized', 'by', 'various', 'types', 'of', 'cancer', 'in', 'childhood', 'and', 'adult', 'cases', '.']
|
[1, 2, 2, 2, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0]
|
train-899
|
Li-Fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases.
| 1 |
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