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['Multicentric', 'origin', 'of', 'hemochromatosis', 'gene', '(', 'HFE', ')', 'mutations', '.'] | [0, 0, 0, 1, 0, 0, 0, 0, 0, 0] | train-200 | Multicentric origin of hemochromatosis gene (HFE) mutations. | 1 |
['Genetic', 'hemochromatosis', '(', 'GH', ')', 'is', 'believed', 'to', 'be', 'a', 'disease', 'restricted', 'to', 'those', 'of', 'European', 'ancestry', '.'] | [1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-201 | Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. | 1 |
['In', 'northwestern', 'Europe', ',', '>', '80', '%', 'of', 'GH', 'patients', 'are', 'homozygous', 'for', 'one', 'mutation', ',', 'the', 'substitution', 'of', 'tyrosine', 'for', 'cysteine', 'at', 'position', '282', '(', 'C282Y', ')', 'in', 'the', 'unprocessed', 'protein', '.'] | [0, 0, 0, 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, 0, 0, 0] | train-202 | In northwestern Europe,>80% of GH patients are homozygous for one mutation, the substitution of tyrosine for cysteine at position 282 (C282Y) in the unprocessed protein. | 1 |
['In', 'a', 'proportion', 'of', 'GH', 'patients', ',', 'two', 'mutations', 'are', 'present', ',', 'C282Y', 'and', 'H63D', '.'] | [0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-203 | In a proportion of GH patients, two mutations are present, C282Y and H63D. | 1 |
['The', 'clinical', 'significance', 'of', 'this', 'second', 'mutation', 'is', 'such', 'that', 'it', 'appears', 'to', 'predispose', '1', '%', '-', '2', '%', 'of', 'compound', 'heterozygotes', 'to', 'expression', 'of', 'the', 'disease', '.'] | [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-204 | The clinical significance of this second mutation is such that it appears to predispose 1%-2% of compound heterozygotes to expression of the disease. | 0 |
['The', 'distribution', 'of', 'the', 'two', 'mutations', 'differ', ',', 'C282Y', 'being', 'limited', 'to', 'those', 'of', 'northwestern', 'European', 'ancestry', 'and', 'H63D', 'being', 'found', 'at', 'allele', 'frequencies', '>', '5', '%', ',', 'in', 'Europe', ',', 'in', 'countries', 'bordering', 'the', 'Mediterranean', ',', 'in', 'the', 'Middle', 'East', ',', 'and', 'in', 'the', 'Indian', 'subcontinent', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-205 | The distribution of the two mutations differ, C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies>5%, in Europe, in countries bordering the Mediterranean, in the Middle East, and in the Indian subcontinent. | 0 |
['The', 'C282Y', 'mutation', 'occurs', 'on', 'a', 'haplotype', 'that', 'extends', '<', '/', '=', '6', 'Mb', ',', 'suggesting', 'that', 'this', 'mutation', 'has', 'arisen', 'during', 'the', 'past', '2', ',', '000', 'years', '.'] | [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-206 | The C282Y mutation occurs on a haplotype that extends </= 6 Mb, suggesting that this mutation has arisen during the past 2, 000 years. | 0 |
['The', 'H63D', 'mutation', 'is', 'older', 'and', 'does', 'not', 'occur', 'on', 'such', 'a', 'large', 'extended', 'haplotype', ',', 'the', 'haplotype', 'in', 'this', 'case', 'extending', '<', '/', '=', '700', 'kb', '.'] | [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-207 | The H63D mutation is older and does not occur on such a large extended haplotype, the haplotype in this case extending </= 700 kb. | 0 |
['Here', 'we', 'report', 'the', 'finding', 'of', 'the', 'H63D', 'and', 'C282Y', 'mutations', 'on', 'new', 'haplotypes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-208 | Here we report the finding of the H63D and C282Y mutations on new haplotypes. | 0 |
['In', 'Sri', 'Lanka', 'we', 'have', 'found', 'H63D', 'on', 'three', 'new', 'haplotypes', 'and', 'have', 'found', 'C282Y', 'on', 'one', 'new', 'haplotype', ',', 'demonstrating', 'that', 'these', 'mutations', 'have', 'arisen', 'independently', 'on', 'this', 'island', '.'] | [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-209 | In Sri Lanka we have found H63D on three new haplotypes and have found C282Y on one new haplotype, demonstrating that these mutations have arisen independently on this island. | 0 |
['These', 'results', 'suggest', 'that', 'the', 'HFE', 'gene', 'has', 'been', 'the', 'subject', 'of', 'selection', 'pressure', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-210 | These results suggest that the HFE gene has been the subject of selection pressure. | 0 |
['These', 'selection', 'pressures', 'could', 'be', 'due', 'to', 'infectious', 'diseases', ',', 'environmental', 'conditions', ',', 'or', 'other', 'genetic', 'disorders', 'such', 'as', 'anemia', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 1, 0] | train-211 | These selection pressures could be due to infectious diseases, environmental conditions, or other genetic disorders such as anemia. | 1 |
['A', 'retrospective', 'anonymous', 'pilot', 'study', 'in', 'screening', 'newborns', 'for', 'HFE', 'mutations', 'in', 'Scandinavian', 'populations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-212 | A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. | 0 |
['We', 'have', 'retrospectively', 'analyzed', '837', 'random', 'anonymized', 'dried', 'blood', 'spot', '(', 'DBS', ')', 'samples', 'from', 'neonatal', 'screening', 'programs', 'in', 'Scandinavia', 'for', 'mutations', 'in', 'HFE', ',', 'the', 'candidate', 'gene', 'for', 'hemochromatosis', '.'] | [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] | train-213 | We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis. | 1 |
['We', 'have', 'found', 'C282Y', 'allele', 'frequencies', 'of', '2', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-214 | We have found C282Y allele frequencies of 2. | 0 |
['3', '%', '(', '+', '2', '.', '0', '%', ')', '(', '-', '1', '.', '3', '%', ')', 'in', 'Greenland', ',', '4', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-215 | 3% (+ 2. 0%) (- 1. 3%) in Greenland, 4. | 0 |
['5', '%', '+', '/', '-', '1', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-216 | 5%+/-1. | 0 |
['9', '%', 'in', 'Iceland', ',', '5', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-217 | 9% in Iceland, 5. | 0 |
['1', '%', '+', '/', '-', '2', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-218 | 1%+/-2. | 0 |
['3', '%', 'in', 'the', 'Faeroe', 'Islands', ',', 'and', '8', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-219 | 3% in the Faeroe Islands, and 8. | 0 |
['2', '%', '+', '/', '-', '2', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-220 | 2%+/-2. | 0 |
['7', '%', 'in', 'Denmark', '.'] | [0, 0, 0, 0, 0] | train-221 | 7% in Denmark. | 0 |
['The', 'high', 'prevalence', 'of', 'HFE', 'mutations', 'in', 'Denmark', 'suggests', 'that', 'population', 'screening', 'for', 'the', 'C282Y', 'mutation', 'could', 'be', 'highly', 'advantageous', 'in', 'terms', 'of', 'preventive', 'health', 'care', '.'] | [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-222 | The high prevalence of HFE mutations in Denmark suggests that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care. | 0 |
['Long', '-', 'term', 'follow', '-', 'up', 'evaluation', 'of', 'C282Y', 'homozygotes', 'and', 'H63D', '/', 'C282Y', 'compound', 'heterozygotes', 'will', 'give', 'an', 'indication', 'of', 'the', 'penetrance', 'of', 'the', '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, 0, 0] | train-223 | Long-term follow-up evaluation of C282Y homozygotes and H63D/C282Y compound heterozygotes will give an indication of the penetrance of the mutations. | 0 |
['Identification', 'of', 'the', 'mutation', 'in', 'the', 'alkaptonuria', 'mouse', 'model', '.'] | [0, 0, 0, 0, 0, 0, 1, 0, 0, 0] | train-224 | Identification of the mutation in the alkaptonuria mouse model. | 1 |
['Alkaptonuria', '(', 'aku', ')', ',', 'an', 'inborn', 'error', 'of', 'metabolism', 'caused', 'by', 'the', 'loss', 'of', 'homogentisate', '1', ',', '2', '-', 'dioxygenase', '(', 'HGD', ')', ',', 'has', 'been', 'described', 'in', 'a', 'mouse', 'model', 'created', 'by', 'ethylnitrosourea', 'mutagenesis', 'but', 'the', 'mutation', 'in', 'these', 'mice', 'has', 'not', 'previously', 'been', 'identified', '.'] | [1, 0, 1, 0, 0, 0, 1, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-225 | Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1, 2-dioxygenase (HGD), has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified. | 1 |
['We', 'used', 'RT', '-', 'PCR', 'to', 'amplify', 'the', 'Hgd', 'cDNA', 'from', 'Hgd', '(', 'aku', ')', '/', 'Hgd', '(', 'aku', ')', 'mice', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-226 | We used RT-PCR to amplify the Hgd cDNA from Hgd (aku)/Hgd (aku) mice. | 0 |
['Two', 'products', 'shorter', 'than', 'the', 'wild', '-', 'type', 'product', 'were', 'amplified', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-227 | Two products shorter than the wild-type product were amplified. | 0 |
['Restriction', 'mapping', 'and', 'DNA', 'sequencing', 'were', 'then', 'used', 'to', 'identify', 'the', 'Hgd', '(', 'aku', ')', 'mouse', 'mutation', ',', 'found', 'to', 'be', 'a', 'single', 'base', 'change', 'in', 'a', 'splice', 'donor', 'consensus', 'sequence', ',', 'causing', 'exon', 'skipping', 'and', 'frame', '-', 'shifted', 'products', '.'] | [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, 0, 0, 0, 0, 0, 0, 0] | train-228 | Restriction mapping and DNA sequencing were then used to identify the Hgd (aku) mouse mutation, found to be a single base change in a splice donor consensus sequence, causing exon skipping and frame-shifted products. | 0 |
['This', 'base', 'change', 'allowed', 'us', 'to', 'create', 'a', 'non', '-', 'radioactive', 'genotyping', 'assay', 'for', 'this', 'allele', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-229 | This base change allowed us to create a non-radioactive genotyping assay for this allele. | 0 |
['Non', '-', 'syndromic', 'hearing', 'loss', 'associated', 'with', 'enlarged', 'vestibular', 'aqueduct', 'is', 'caused', 'by', 'PDS', 'mutations', '.'] | [1, 2, 2, 2, 2, 0, 0, 1, 2, 2, 0, 0, 0, 1, 0, 0] | train-230 | Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. | 1 |
['Enlarged', 'vestibular', 'aqueduct', '(', 'EVA', ')', ',', 'known', 'as', 'the', 'most', 'common', 'form', 'of', 'inner', 'ear', 'abnormality', ',', 'has', 'recently', 'been', 'of', 'particular', 'genetic', 'interest', 'because', 'this', 'anomaly', 'is', 'inherited', 'in', 'a', 'recessive', 'manner', '.'] | [1, 2, 2, 0, 1, 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, 0, 0, 0, 0] | train-231 | Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. | 1 |
['The', 'locus', 'for', 'non', '-', 'syndromic', 'sensorineural', 'hearing', 'loss', 'with', 'EVA', 'has', 'been', 'mapped', 'to', 'the', 'same', 'chromosomal', 'region', ',', '7q31', ',', 'as', 'the', 'Pendred', 'syndrome', 'locus', '.'] | [0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0] | train-232 | The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. | 1 |
['In', 'the', 'present', 'study', ',', 'seven', 'mutations', 'in', 'the', 'PDS', 'gene', '(', 'PDS', ')', ',', 'the', 'gene', 'responsible', 'for', 'Pendred', 'syndrome', ',', 'have', 'been', 'found', 'in', 'families', 'of', 'non', '-', 'syndromic', 'sensorineural', 'hearing', 'loss', 'with', 'EVA', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 1, 0] | train-233 | In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. | 1 |
['One', 'family', 'is', 'homozygous', ',', 'three', 'families', 'are', 'compound', 'heterozygotes', ',', 'and', 'two', 'families', 'are', 'heterozygous', 'but', 'with', 'no', 'other', 'mutation', 'detected', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-234 | One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. | 0 |
['The', 'present', 'results', 'provide', 'evidence', 'that', 'mutations', 'in', 'PDS', 'cause', 'both', 'syndromic', 'and', 'non', '-', 'syndromic', 'hearing', 'loss', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0] | train-235 | The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.. | 1 |
['Mutational', 'analysis', 'and', 'genotype', '-', 'phenotype', 'correlation', 'of', '29', 'unrelated', 'Japanese', 'patients', 'with', 'X', '-', 'linked', 'adrenoleukodystrophy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-236 | Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. | 1 |
['BACKGROUND', 'X', '-', 'linked', 'adrenoleukodystrophy', '(', 'ALD', ')', 'is', 'an', 'inherited', 'disease', 'characterized', 'by', 'progressive', 'neurologic', 'dysfunction', ',', 'occasionally', 'associated', 'with', 'adrenal', 'insufficiency', '.'] | [0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 1, 2, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0] | train-237 | BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency. | 1 |
['The', 'classic', 'form', 'of', 'ALD', 'usually', 'has', 'onset', 'in', 'childhood', '(', 'childhood', 'cerebral', 'ALD', ')', ',', 'with', 'rapid', 'neurologic', 'deterioration', 'leading', 'to', 'a', 'vegetative', 'state', '.'] | [0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0] | train-238 | The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state. | 1 |
['Adult', '-', 'onset', 'cerebral', 'ALD', 'also', 'presents', 'with', 'rapidly', 'progressive', 'neurologic', 'dysfunction', '.'] | [0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 1, 2, 0] | train-239 | Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction. | 1 |
['Milder', 'phenotypes', 'such', 'as', 'adrenomyeloneuropathy', 'and', 'Addison', 'disease', 'only', 'also', 'have', 'been', 'recognized', '.'] | [0, 0, 0, 0, 1, 0, 1, 2, 0, 0, 0, 0, 0, 0] | train-240 | Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized. | 1 |
['Despite', 'discovery', 'of', 'the', 'causative', 'gene', ',', 'a', 'molecular', 'basis', 'for', 'the', 'diverse', 'clinical', 'presentations', 'remains', 'to', 'be', 'elucidated', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-241 | Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated. | 0 |
['OBJECTIVES', 'To', 'conduct', 'mutational', 'analyses', 'in', '29', 'Japanese', 'patients', 'with', 'ALD', 'from', '29', 'unrelated', 'families', ',', 'to', 'obtain', 'knowledge', 'of', 'the', 'spectrum', 'of', 'mutations', 'in', 'this', 'gene', ',', 'and', 'to', 'study', 'genotype', '-', 'phenotype', 'correlations', 'in', 'Japanese', 'patients', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-242 | OBJECTIVES To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients. | 1 |
['METHODS', 'The', '29', 'patients', 'comprised', '13', 'patients', 'with', 'childhood', 'cerebral', 'ALD', ',', '11', 'patients', 'with', 'adult', '-', 'onset', 'cerebral', 'ALD', ',', 'and', '5', 'patients', 'with', 'adrenomyeloneuropathy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 1, 0] | train-243 | METHODS The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy. | 1 |
['We', 'conducted', 'detailed', 'mutational', 'analyses', 'of', '29', 'unrelated', 'Japanese', 'patients', 'with', 'ALD', 'by', 'genomic', 'Southern', 'blot', 'analysis', 'and', 'direct', 'nucleotide', 'sequence', 'analysis', 'of', 'reverse', 'transcriptase', '-', 'polymerase', 'chain', 'reaction', 'products', 'derived', 'from', 'total', 'RNA', 'that', 'was', 'extracted', 'from', 'cultured', 'skin', 'fibroblasts', ',', 'lymphoblastoid', 'cells', ',', 'or', 'peripheral', 'blood', 'leukocytes', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-244 | We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes. | 1 |
['RESULTS', 'Three', 'patients', 'with', 'adult', '-', 'onset', 'cerebral', 'ALD', 'were', 'identified', 'as', 'having', 'large', 'genomic', 'rearrangements', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0] | train-245 | RESULTS Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements. | 1 |
['The', 'remaining', '26', 'patients', 'were', 'identified', 'as', 'having', '21', 'independent', 'mutations', ',', 'including', '12', 'novel', 'mutations', 'resulting', 'in', 'small', 'nucleotide', 'alterations', 'in', 'the', 'ALD', 'gene', '.'] | [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-246 | The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the ALD gene. | 1 |
['Eighteen', '(', '69', '%', ')', 'of', '26', 'mutations', 'were', 'missense', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-247 | Eighteen (69%) of 26 mutations were missense mutations. | 0 |
['Most', 'missense', 'mutations', 'involved', 'amino', 'acids', 'conserved', 'in', 'homologous', 'gene', 'products', ',', 'including', 'PMP70', ',', 'mALDRP', ',', 'and', 'Pxa1p', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-248 | Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p. | 0 |
['The', 'AG', 'dinucleotide', 'deletion', 'at', 'position', '1081', '-', '1082', ',', 'which', 'has', 'been', 'reported', 'previously', 'to', 'be', 'the', 'most', 'common', 'mutation', 'in', 'white', 'patients', '(', '12', '%', '-', '17', '%', ')', ',', 'was', 'also', 'identified', 'as', 'the', 'most', 'common', 'mutation', 'in', 'Japanese', 'patients', '(', '12', '%', ')', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-249 | The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12%-17%), was also identified as the most common mutation in Japanese patients (12%). | 0 |
['All', 'phenotypes', 'were', 'associated', 'with', 'mutations', 'resulting', 'in', 'protein', 'truncation', 'or', 'subtle', 'amino', 'acid', 'changes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-250 | All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes. | 0 |
['There', 'were', 'no', 'differences', 'in', 'phenotypic', 'expressions', 'between', 'missense', 'mutations', 'involving', 'conserved', 'amino', 'acids', 'and', 'those', 'involving', 'nonconserved', 'amino', 'acids', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-251 | There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids. | 0 |
['CONCLUSIONS', 'There', 'are', 'no', 'obvious', 'correlations', 'between', 'the', 'phenotypes', 'of', 'patients', 'with', 'ALD', 'and', 'their', 'genotypes', ',', 'suggesting', 'that', 'other', 'genetic', 'or', 'environmental', 'factors', 'modify', 'the', 'phenotypic', 'expressions', 'of', 'ALD', '.', '.'] | [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, 0, 1, 0, 0] | train-252 | CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD.. | 1 |
['A', 'common', 'human', 'skin', 'tumour', 'is', 'caused', 'by', 'activating', 'mutations', 'in', 'beta', '-', 'catenin', '.'] | [0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-253 | A common human skin tumour is caused by activating mutations in beta-catenin. | 1 |
['WNT', 'signalling', 'orchestrates', 'a', 'number', 'of', 'developmental', 'programs', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-254 | WNT signalling orchestrates a number of developmental programs. | 0 |
['In', 'response', 'to', 'this', 'stimulus', ',', 'cytoplasmic', 'beta', '-', 'catenin', '(', 'encoded', 'by', 'CTNNB1', ')', 'is', 'stabilized', ',', 'enabling', 'downstream', 'transcriptional', 'activation', 'by', 'members', 'of', 'the', 'LEF', '/', 'TCF', 'family', '.'] | [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-255 | In response to this stimulus, cytoplasmic beta-catenin (encoded by CTNNB1) is stabilized, enabling downstream transcriptional activation by members of the LEF/TCF family. | 0 |
['One', 'of', 'the', 'target', 'genes', 'for', 'beta', '-', 'catenin', '/', 'TCF', 'encodes', 'c', '-', 'MYC', ',', 'explaining', 'why', 'constitutive', 'activation', 'of', 'the', 'WNT', 'pathway', 'can', 'lead', 'to', 'cancer', ',', 'particularly', 'in', 'the', 'colon', '.'] | [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, 0] | train-256 | One of the target genes for beta-catenin/TCF encodes c-MYC, explaining why constitutive activation of the WNT pathway can lead to cancer, particularly in the colon. | 1 |
['Most', 'colon', 'cancers', 'arise', 'from', 'mutations', 'in', 'the', 'gene', 'encoding', 'adenomatous', 'polyposis', 'coli', '(', 'APC', ')', ',', 'a', 'protein', 'required', 'for', 'ubiquitin', '-', 'mediated', 'degradation', 'of', 'beta', '-', 'catenin', ',', 'but', 'a', 'small', 'percentage', 'of', 'colon', 'and', 'some', 'other', 'cancers', 'harbour', 'beta', '-', 'catenin', '-', 'stabilizing', 'mutations', '.'] | [0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0] | train-257 | Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli (APC), a protein required for ubiquitin-mediated degradation of beta-catenin, but a small percentage of colon and some other cancers harbour beta-catenin-stabilizing mutations. | 1 |
['Recently', ',', 'we', 'discovered', 'that', 'transgenic', 'mice', 'expressing', 'an', 'activated', 'beta', '-', 'catenin', 'are', 'predisposed', 'to', 'developing', 'skin', 'tumours', 'resembling', 'pilomatricomas', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0] | train-258 | Recently, we discovered that transgenic mice expressing an activated beta-catenin are predisposed to developing skin tumours resembling pilomatricomas. | 1 |
['Given', 'that', 'the', 'skin', 'of', 'these', 'adult', 'mice', 'also', 'exhibits', 'signs', 'of', 'de', 'novo', 'hair', '-', 'follicle', 'morphogenesis', ',', 'we', 'wondered', 'whether', 'human', 'pilomatricomas', 'might', 'originate', 'from', 'hair', 'matrix', 'cells', 'and', 'whether', 'they', 'might', 'possess', 'beta', '-', 'catenin', '-', 'stabilizing', 'mutations', '.'] | [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, 0, 0, 0, 0, 0, 0, 0] | train-259 | Given that the skin of these adult mice also exhibits signs of de novo hair-follicle morphogenesis, we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta-catenin-stabilizing mutations. | 1 |
['Here', ',', 'we', 'explore', 'the', 'cell', 'origin', 'and', 'aetiology', 'of', 'this', 'common', 'human', 'skin', 'tumour', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | train-260 | Here, we explore the cell origin and aetiology of this common human skin tumour. | 1 |
['We', 'found', 'nuclear', 'LEF', '-', '1', 'in', 'the', 'dividing', 'tumour', 'cells', ',', 'providing', 'biochemical', 'evidence', 'that', 'pilomatricomas', 'are', 'derived', 'from', 'hair', 'matrix', 'cells', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0] | train-261 | We found nuclear LEF-1 in the dividing tumour cells, providing biochemical evidence that pilomatricomas are derived from hair matrix cells. | 1 |
['At', 'least', '75', '%', 'of', 'these', 'tumours', 'possess', 'mutations', 'affecting', 'the', 'amino', '-', 'terminal', 'segment', ',', 'normally', 'involved', 'in', 'phosphorylation', '-', 'dependent', ',', 'ubiquitin', '-', 'mediated', 'degradation', 'of', 'the', 'protein', '.'] | [0, 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, 0, 0, 0] | train-262 | At least 75% of these tumours possess mutations affecting the amino-terminal segment, normally involved in phosphorylation-dependent, ubiquitin-mediated degradation of the protein. | 1 |
['This', 'percentage', 'of', 'CTNNB1', 'mutations', 'is', 'greater', 'than', 'in', 'all', 'other', 'human', 'tumours', 'examined', 'thus', 'far', ',', 'and', 'directly', 'implicates', 'beta', '-', 'catenin', '/', 'LEF', 'misregulation', 'as', 'the', 'major', 'cause', 'of', 'hair', 'matrix', 'cell', 'tumorigenesis', 'in', 'humans', '.', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-263 | This percentage of CTNNB1 mutations is greater than in all other human tumours examined thus far, and directly implicates beta-catenin/LEF misregulation as the major cause of hair matrix cell tumorigenesis in humans.. | 1 |
['The', 'Pendred', 'syndrome', 'gene', 'encodes', 'a', 'chloride', '-', 'iodide', 'transport', 'protein', '.'] | [0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-264 | The Pendred syndrome gene encodes a chloride-iodide transport protein. | 1 |
['Pendred', 'syndrome', 'is', 'the', 'most', 'common', 'form', 'of', 'syndromic', 'deafness', 'and', 'characterized', 'by', 'congenital', 'sensorineural', 'hearing', 'loss', 'and', 'goitre', '.'] | [1, 2, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 2, 2, 0, 1, 0] | train-265 | Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre. | 1 |
['This', 'disorder', 'was', 'mapped', 'to', 'chromosome', '7', 'and', 'the', 'gene', 'causing', 'Pendred', 'syndrome', '(', 'PDS', ')', 'was', 'subsequently', 'identified', 'by', 'positional', 'cloning', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0] | train-266 | This disorder was mapped to chromosome 7 and the gene causing Pendred syndrome (PDS) was subsequently identified by positional cloning. | 1 |
['PDS', 'encodes', 'a', 'putative', 'transmembrane', 'protein', 'designated', 'pendrin', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-267 | PDS encodes a putative transmembrane protein designated pendrin. | 0 |
['Pendrin', 'is', 'closely', 'related', 'to', 'a', 'family', 'of', 'sulfate', 'transport', 'proteins', 'that', 'includes', 'the', 'rat', 'sulfate', '-', 'anion', 'transporter', '(', 'encoded', 'by', 'Sat', '-', '1', ';', '29', '%', 'amino', 'acid', 'sequence', 'identity', ')', ',', 'the', 'human', 'diastrophic', 'dysplasia', 'sulfate', 'transporter', '(', 'encoded', 'by', 'DTD', ';', '32', '%', ')', 'and', 'the', 'human', 'sulfate', 'transporter', 'downregulated', 'in', 'adenoma', '(', 'encoded', 'by', 'DRA', ';', '45', '%', ')', '.'] | [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, 0, 0, 1, 2, 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] | train-268 | Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate-anion transporter (encoded by Sat-1;29% amino acid sequence identity), the human diastrophic dysplasia sulfate transporter (encoded by DTD;32%) and the human sulfate transporter downregulated in adenoma (encoded by DRA;45%). | 1 |
['On', 'the', 'basis', 'of', 'this', 'homology', 'and', 'the', 'presence', 'of', 'a', 'slightly', 'modified', 'sulfate', '-', 'transporter', 'signature', 'sequence', 'comprising', 'its', 'putative', 'second', 'transmembrane', 'domain', ',', 'pendrin', 'has', 'been', 'proposed', 'to', 'function', 'as', 'a', 'sulfate', 'transporter', '.'] | [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, 0, 0] | train-269 | On the basis of this homology and the presence of a slightly modified sulfate-transporter signature sequence comprising its putative second transmembrane domain, pendrin has been proposed to function as a sulfate transporter. | 0 |
['We', 'were', 'unable', 'to', 'detect', 'evidence', 'of', 'sulfate', 'transport', 'following', 'the', 'expression', 'of', 'pendrin', 'in', 'Xenopus', 'laevis', 'oocytes', 'by', 'microinjection', 'of', 'PDS', 'cRNA', 'or', 'in', 'Sf9', 'cells', 'following', 'infection', 'with', 'PDS', '-', 'recombinant', 'baculovirus', '.'] | [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, 0] | train-270 | We were unable to detect evidence of sulfate transport following the expression of pendrin in Xenopus laevis oocytes by microinjection of PDS cRNA or in Sf9 cells following infection with PDS-recombinant baculovirus. | 0 |
['The', 'rates', 'of', 'transport', 'for', 'iodide', 'and', 'chloride', 'were', 'significantly', 'increased', 'following', 'the', 'expression', 'of', 'pendrin', 'in', 'both', 'cell', 'systems', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-271 | The rates of transport for iodide and chloride were significantly increased following the expression of pendrin in both cell systems. | 0 |
['Our', 'results', 'demonstrate', 'that', 'pendrin', 'functions', 'as', 'a', 'transporter', 'of', 'chloride', 'and', 'iodide', ',', 'but', 'not', 'sulfate', ',', 'and', 'may', 'provide', 'insight', 'into', 'thyroid', 'physiology', 'and', 'the', 'pathophysiology', 'of', 'Pendred', 'syndrome', '.', '.'] | [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, 2, 0, 0] | train-272 | Our results demonstrate that pendrin functions as a transporter of chloride and iodide, but not sulfate, and may provide insight into thyroid physiology and the pathophysiology of Pendred syndrome.. | 1 |
['HFE', 'mutations', 'analysis', 'in', '711', 'hemochromatosis', 'probands', ':', 'evidence', 'for', 'S65C', 'implication', 'in', 'mild', 'form', 'of', 'hemochromatosis', '.'] | [0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-273 | HFE mutations analysis in 711 hemochromatosis probands:evidence for S65C implication in mild form of hemochromatosis. | 1 |
['Hereditary', 'hemochromatosis', '(', 'HH', ')', 'is', 'a', 'common', 'autosomal', 'recessive', 'genetic', 'disorder', 'of', 'iron', 'metabolism', '.'] | [1, 2, 0, 1, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0] | train-274 | Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. | 1 |
['The', 'HFE', 'candidate', 'gene', 'encoding', 'an', 'HLA', 'class', 'I', '-', 'like', 'protein', 'involved', 'in', 'HH', 'was', 'identified', 'in', '1996', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0] | train-275 | The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. | 1 |
['Two', 'missense', 'mutations', 'have', 'been', 'described', 'C282Y', ',', 'accounting', 'for', '80', '%', 'to', '90', '%', 'of', 'HH', 'chromosomes', ',', 'and', 'H63D', ',', 'which', 'is', 'associated', 'with', 'a', 'milder', 'form', 'of', 'the', 'disease', 'representing', '40', '%', 'to', '70', '%', 'of', 'non', '-', 'C282Y', 'HH', 'chromosomes', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-276 | Two missense mutations have been described C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. | 1 |
['We', 'report', 'here', 'on', 'the', 'analysis', 'of', 'C282Y', ',', 'H63D', ',', 'and', 'the', '193A', '-', '-', '>', 'T', 'substitution', 'leading', 'to', 'the', 'S65C', 'missense', 'substitution', 'in', 'a', 'large', 'series', 'of', 'probands', 'and', 'controls', '.'] | [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-277 | We report here on the analysis of C282Y, H63D, and the 193A-->T substitution leading to the S65C missense substitution in a large series of probands and controls. | 0 |
['The', 'results', 'confirm', 'that', 'the', 'C282Y', 'substitution', 'was', 'the', 'main', 'mutation', 'involved', 'in', 'hemochromatosis', ',', 'accounting', 'for', '85', '%', 'of', 'carrier', 'chromosomes', ',', 'whereas', 'the', 'H63D', 'substitution', 'represented', '39', '%', 'of', 'the', 'HH', 'chromosomes', 'that', 'did', 'not', 'carry', 'the', 'C282Y', 'mutation', '.'] | [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, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-278 | The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation. | 1 |
['In', 'addition', ',', 'our', 'screening', 'showed', 'that', 'the', 'S65C', 'substitution', 'was', 'significantly', 'enriched', 'in', 'probands', 'with', 'at', 'least', 'one', 'chromosome', 'without', 'an', 'assigned', 'mutation', '.'] | [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-279 | In addition, our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation. | 0 |
['This', 'substitution', 'accounted', 'for', '7', '.'] | [0, 0, 0, 0, 0, 0] | train-280 | This substitution accounted for 7. | 0 |
['8', '%', 'of', 'HH', 'chromosomes', 'that', 'were', 'neither', 'C282Y', 'nor', 'H63D', '.'] | [0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0] | train-281 | 8% of HH chromosomes that were neither C282Y nor H63D. | 1 |
['This', 'enrichment', 'of', 'S65C', 'among', 'HH', 'chromosomes', 'suggests', 'that', 'the', 'S65C', 'substitution', 'is', 'associated', 'with', 'the', 'mild', 'form', 'of', 'hemochromatosis', '.'] | [0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-282 | This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis. | 1 |
['Germline', 'BRCA1', 'alterations', 'in', 'a', 'population', '-', 'based', 'series', 'of', 'ovarian', 'cancer', 'cases', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0] | train-283 | Germline BRCA1 alterations in a population-based series of ovarian cancer cases. | 1 |
['The', 'objective', 'of', 'this', 'study', 'was', 'to', 'provide', 'more', 'accurate', 'frequency', 'estimates', 'of', 'breast', 'cancer', 'susceptibility', 'gene', '1', '(', 'BRCA1', ')', 'germline', 'alterations', 'in', 'the', 'ovarian', 'cancer', 'population', '.'] | [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, 1, 2, 0, 0] | train-284 | The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 (BRCA1) germline alterations in the ovarian cancer population. | 1 |
['To', 'achieve', 'this', ',', 'we', 'determined', 'the', 'prevalence', 'of', 'BRCA1', 'alterations', 'in', 'a', 'population', '-', 'based', 'series', 'of', 'consecutive', 'ovarian', 'cancer', 'cases', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0] | train-285 | To achieve this, we determined the prevalence of BRCA1 alterations in a population-based series of consecutive ovarian cancer cases. | 1 |
['This', 'is', 'the', 'first', 'population', '-', 'based', 'ovarian', 'cancer', 'study', 'reporting', 'BRCA1', 'alterations', 'derived', 'from', 'a', 'comprehensive', 'screen', 'of', 'the', 'entire', 'coding', 'region', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-286 | This is the first population-based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region. | 1 |
['One', 'hundred', 'and', 'seven', 'ovarian', 'cancer', 'cases', 'were', 'analyzed', 'for', 'BRCA1', 'alterations', 'using', 'the', 'RNase', 'mismatch', 'cleavage', 'assay', 'followed', 'by', 'direct', 'sequencing', '.'] | [0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-287 | One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing. | 1 |
['Two', 'truncating', 'mutations', ',', '962del4', 'and', '3600del11', ',', 'were', 'identified', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-288 | Two truncating mutations, 962del4 and 3600del11, were identified. | 0 |
['Both', 'patients', 'had', 'a', 'family', 'history', 'of', 'breast', 'or', 'ovarian', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-289 | Both patients had a family history of breast or ovarian cancer. | 1 |
['Several', 'novel', 'as', 'well', 'as', 'previously', 'reported', 'uncharacterized', 'variants', 'were', 'also', 'identified', ',', 'some', 'of', 'which', 'were', 'associated', 'with', 'a', 'family', 'history', 'of', 'cancer', '.'] | [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] | train-290 | Several novel as well as previously reported uncharacterized variants were also identified, some of which were associated with a family history of cancer. | 1 |
['The', 'frequency', 'distribution', 'of', 'common', 'polymorphisms', 'was', 'determined', 'in', 'the', '91', 'Caucasian', 'cancer', 'cases', 'in', 'this', 'series', 'and', '24', 'sister', 'controls', 'using', 'allele', '-', 'specific', 'amplification', '.'] | [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] | train-291 | The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele-specific amplification. | 1 |
['The', 'rare', 'form', 'of', 'the', 'Q356R', 'polymorphism', 'was', 'significantly', '(', 'P', '=', '0', '.', '03', ')', 'associated', 'with', 'a', 'family', 'history', 'of', 'ovarian', 'cancer', ',', 'suggesting', 'that', 'this', 'polymorphism', 'may', 'influence', 'ovarian', 'cancer', 'risk', '.'] | [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, 1, 2, 0, 0] | train-292 | The rare form of the Q356R polymorphism was significantly (P=0. 03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. | 1 |
['In', 'summary', ',', 'our', 'data', 'suggest', 'a', 'role', 'for', 'some', 'uncharacterized', 'variants', 'and', 'rare', 'forms', 'of', 'polymorphisms', 'in', 'determining', 'ovarian', 'cancer', 'risk', ',', 'and', 'highlight', 'the', 'necessity', 'to', 'screen', 'for', 'missense', 'alterations', 'as', 'well', 'as', 'truncating', 'mutations', 'in', 'this', 'population', '.'] | [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, 0, 0] | train-293 | In summary, our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk, and highlight the necessity to screen for missense alterations as well as truncating mutations in this population. | 1 |
['Adrenoleukodystrophy', '-', 'related', 'protein', 'can', 'compensate', 'functionally', 'for', 'adrenoleukodystrophy', 'protein', 'deficiency', '(', 'X', '-', 'ALD', ')', ':', 'implications', 'for', 'therapy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0] | train-294 | Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD):implications for therapy. | 1 |
['Inherited', 'defects', 'in', 'the', 'peroxisomal', 'ATP', '-', 'binding', 'cassette', '(', 'ABC', ')', 'transporter', 'adrenoleukodystrophy', 'protein', '(', 'ALDP', ')', 'lead', 'to', 'the', 'lethal', 'peroxisomal', 'disorder', 'X', '-', 'linked', 'adrenoleukodystrophy', '(', 'X', '-', 'ALD', ')', ',', 'for', 'which', 'no', 'efficient', 'treatment', 'has', 'been', 'established', 'so', 'far', '.'] | [1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 1, 2, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-295 | Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been established so far. | 1 |
['Three', 'other', 'peroxisomal', 'ABC', 'transporters', 'currently', 'are', 'known', 'adrenoleukodystrophy', '-', 'related', 'protein', '(', 'ALDRP', ')', ',', '70', 'kDa', 'peroxisomal', 'membrane', 'protein', '(', 'PMP70', ')', 'and', 'PMP70', '-', 'related', 'protein', '.'] | [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-296 | Three other peroxisomal ABC transporters currently are known adrenoleukodystrophy-related protein (ALDRP), 70 kDa peroxisomal membrane protein (PMP70) and PMP70-related protein. | 0 |
['By', 'using', 'transient', 'and', 'stable', 'overexpression', 'of', 'human', 'cDNAs', 'encoding', 'ALDP', 'and', 'its', 'closest', 'relative', 'ALDRP', ',', 'we', 'could', 'restore', 'the', 'impaired', 'peroxisomal', 'beta', '-', 'oxidation', 'in', 'fibroblasts', 'of', 'X', '-', 'ALD', 'patients', '.'] | [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, 2, 2, 0, 0] | train-297 | By using transient and stable overexpression of human cDNAs encoding ALDP and its closest relative ALDRP, we could restore the impaired peroxisomal beta-oxidation in fibroblasts of X-ALD patients. | 1 |
['The', 'pathognomonic', 'accumulation', 'of', 'very', 'long', 'chain', 'fatty', 'acids', 'could', 'also', 'be', 'prevented', 'by', 'overexpression', 'of', 'ALDRP', 'in', 'immortalized', 'X', '-', 'ALD', 'cells', '.'] | [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-298 | The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of ALDRP in immortalized X-ALD cells. | 0 |
['Immunofluorescence', 'analysis', 'demonstrated', 'that', 'the', 'functional', 'replacement', 'of', 'ALDP', 'by', 'ALDRP', 'was', 'not', 'due', 'to', 'stabilization', 'of', 'the', 'mutated', 'ALDP', 'itself', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-299 | Immunofluorescence analysis demonstrated that the functional replacement of ALDP by ALDRP was not due to stabilization of the mutated ALDP itself. | 0 |
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