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['Identification', 'of', 'APC2', ',', 'a', 'homologue', 'of', 'the', 'adenomatous', 'polyposis', 'coli', 'tumour', 'suppressor', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0] | train-0 | Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. | 1 |
['The', 'adenomatous', 'polyposis', 'coli', '(', 'APC', ')', 'tumour', '-', 'suppressor', 'protein', 'controls', 'the', 'Wnt', 'signalling', 'pathway', 'by', 'forming', 'a', 'complex', 'with', 'glycogen', 'synthase', 'kinase', '3beta', '(', 'GSK', '-', '3beta', ')', ',', 'axin', '/', 'conductin', 'and', 'betacatenin', '.'] | [0, 1, 2, 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, 0, 0, 0, 0, 0, 0] | train-1 | The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin. | 1 |
['Complex', 'formation', 'induces', 'the', 'rapid', 'degradation', 'of', 'betacatenin', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-2 | Complex formation induces the rapid degradation of betacatenin. | 0 |
['In', 'colon', 'carcinoma', 'cells', ',', 'loss', 'of', 'APC', 'leads', 'to', 'the', 'accumulation', 'of', 'betacatenin', 'in', 'the', 'nucleus', ',', 'where', 'it', 'binds', 'to', 'and', 'activates', 'the', 'Tcf', '-', '4', 'transcription', 'factor', '(', 'reviewed', 'in', '[', '1', ']', '[', '2', ']', ')', '.'] | [0, 1, 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-3 | In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]). | 1 |
['Here', ',', 'we', 'report', 'the', 'identification', 'and', 'genomic', 'structure', 'of', 'APC', 'homologues', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-4 | Here, we report the identification and genomic structure of APC homologues. | 0 |
['Mammalian', 'APC2', ',', 'which', 'closely', 'resembles', 'APC', 'in', 'overall', 'domain', 'structure', ',', 'was', 'functionally', 'analyzed', 'and', 'shown', 'to', 'contain', 'two', 'SAMP', 'domains', ',', 'both', 'of', 'which', 'are', 'required', 'for', 'binding', 'to', 'conductin', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 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-5 | Mammalian APC2, which closely resembles APC in overall domain structure, was functionally analyzed and shown to contain two SAMP domains, both of which are required for binding to conductin. | 0 |
['Like', 'APC', ',', 'APC2', 'regulates', 'the', 'formation', 'of', 'active', 'betacatenin', '-', 'Tcf', 'complexes', ',', 'as', 'demonstrated', 'using', 'transient', 'transcriptional', 'activation', 'assays', 'in', 'APC', '-', '/', '-', 'colon', 'carcinoma', '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, 0, 0, 1, 2, 0, 0] | train-6 | Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC-/-colon carcinoma cells. | 1 |
['Human', 'APC2', 'maps', 'to', 'chromosome', '19p13', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-7 | Human APC2 maps to chromosome 19p13. | 0 |
['3', '.'] | [0, 0] | train-8 | 3. | 0 |
['APC', 'and', 'APC2', 'may', 'therefore', 'have', 'comparable', 'functions', 'in', 'development', 'and', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-9 | APC and APC2 may therefore have comparable functions in development and cancer. | 1 |
['A', 'common', 'MSH2', 'mutation', 'in', 'English', 'and', 'North', 'American', 'HNPCC', 'families', ':', 'origin', ',', 'phenotypic', 'expression', ',', 'and', 'sex', 'specific', 'differences', 'in', 'colorectal', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | train-10 | A common MSH2 mutation in English and North American HNPCC families:origin, phenotypic expression, and sex specific differences in colorectal cancer. | 1 |
['The', 'frequency', ',', 'origin', ',', 'and', 'phenotypic', 'expression', 'of', 'a', 'germline', 'MSH2', 'gene', 'mutation', 'previously', 'identified', 'in', 'seven', 'kindreds', 'with', 'hereditary', 'non', '-', 'polyposis', 'cancer', 'syndrome', '(', 'HNPCC', ')', 'was', 'investigated', '.'] | [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, 2, 0, 1, 0, 0, 0, 0] | train-11 | The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. | 1 |
['The', 'mutation', '(', 'A', '-', '-', '>', 'T', 'at', 'nt943', '+', '3', ')', 'disrupts', 'the', '3', 'splice', 'site', 'of', 'exon', '5', 'leading', 'to', 'the', 'deletion', 'of', 'this', 'exon', 'from', 'MSH2', 'mRNA', 'and', 'represents', 'the', 'only', 'frequent', 'MSH2', 'mutation', 'so', 'far', 'reported', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-12 | The mutation (A-->T at nt943+3) disrupts the 3 splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. | 0 |
['Although', 'this', 'mutation', 'was', 'initially', 'detected', 'in', 'four', 'of', '33', 'colorectal', 'cancer', 'families', 'analysed', 'from', 'eastern', 'England', ',', 'more', 'extensive', 'analysis', 'has', 'reduced', 'the', 'frequency', 'to', 'four', 'of', '52', '(', '8', '%', ')', 'English', 'HNPCC', 'kindreds', 'analysed', '.'] | [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, 0, 0, 1, 0, 0, 0] | train-13 | Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. | 1 |
['In', 'contrast', ',', 'the', 'MSH2', 'mutation', 'was', 'identified', 'in', '10', 'of', '20', '(', '50', '%', ')', 'separately', 'identified', 'colorectal', 'families', 'from', 'Newfoundland', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0] | train-14 | In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. | 1 |
['To', 'investigate', 'the', 'origin', 'of', 'this', 'mutation', 'in', 'colorectal', 'cancer', 'families', 'from', 'England', '(', 'n', '=', '4', ')', ',', 'Newfoundland', '(', 'n', '=', '10', ')', ',', 'and', 'the', 'United', 'States', '(', 'n', '=', '3', ')', ',', 'haplotype', 'analysis', 'using', 'microsatellite', 'markers', 'linked', 'to', 'MSH2', 'was', 'performed', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-15 | To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. | 1 |
['Within', 'the', 'English', 'and', 'US', 'families', 'there', 'was', 'little', 'evidence', 'for', 'a', 'recent', 'common', 'origin', 'of', 'the', 'MSH2', 'splice', 'site', 'mutation', 'in', 'most', 'families', '.'] | [0, 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-16 | Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. | 0 |
['In', 'contrast', ',', 'a', 'common', 'haplotype', 'was', 'identified', 'at', 'the', 'two', 'flanking', 'markers', '(', 'CA5', 'and', 'D2S288', ')', 'in', 'eight', 'of', 'the', 'Newfoundland', 'families', '.'] | [0, 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-17 | In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. | 0 |
['These', 'findings', 'suggested', 'a', 'founder', 'effect', 'within', 'Newfoundland', 'similar', 'to', 'that', 'reported', 'by', 'others', 'for', 'two', 'MLH1', 'mutations', 'in', 'Finnish', 'HNPCC', 'families', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-18 | These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. | 1 |
['We', 'calculated', 'age', 'related', 'risks', 'of', 'all', ',', 'colorectal', ',', 'endometrial', ',', 'and', 'ovarian', 'cancers', 'in', 'nt943', '+', '3', 'A', '-', '-', '>', 'T', 'MSH2', 'mutation', 'carriers', '(', 'n', '=', '76', ')', 'for', 'all', 'patients', 'and', 'for', 'men', 'and', 'women', 'separately', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 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, 0, 0, 0, 0] | train-19 | We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. | 1 |
['For', 'both', 'sexes', 'combined', ',', 'the', 'penetrances', 'at', 'age', '60', 'years', 'for', 'all', 'cancers', 'and', 'for', 'colorectal', 'cancer', 'were', '0', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 2, 0, 0, 0] | train-20 | For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0. | 1 |
['86', 'and', '0', '.'] | [0, 0, 0, 0] | train-21 | 86 and 0. | 0 |
['57', ',', 'respectively', '.'] | [0, 0, 0, 0] | train-22 | 57, respectively. | 0 |
['The', 'risk', 'of', 'colorectal', 'cancer', 'was', 'significantly', 'higher', '(', 'p', '<', '0', '.', '01', ')', 'in', 'males', 'than', 'females', '(', '0', '.', '63', 'v', '0', '.', '30', 'and', '0', '.', '84', 'v', '0', '.', '44', 'at', 'ages', '50', 'and', '60', 'years', ',', 'respectively', ')', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-23 | The risk of colorectal cancer was significantly higher (p<0. 01) in males than females (0. 63 v 0. 30 and 0. 84 v 0. 44 at ages 50 and 60 years, respectively). | 1 |
['For', 'females', 'there', 'was', 'a', 'high', 'risk', 'of', 'endometrial', 'cancer', '(', '0', '.', '5', 'at', 'age', '60', 'years', ')', 'and', 'premenopausal', 'ovarian', 'cancer', '(', '0', '.', '2', 'at', '50', 'years', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-24 | For females there was a high risk of endometrial cancer (0. 5 at age 60 years) and premenopausal ovarian cancer (0. 2 at 50 years). | 1 |
['These', 'intersex', 'differences', 'in', 'colorectal', 'cancer', 'risks', 'have', 'implications', 'for', 'screening', 'programmes', 'and', 'for', 'attempts', 'to', 'identify', 'colorectal', 'cancer', 'susceptibility', 'modifiers', '.'] | [0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0] | train-25 | These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers. | 1 |
['Age', 'of', 'onset', 'in', 'Huntington', 'disease', ':', 'sex', 'specific', 'influence', 'of', 'apolipoprotein', 'E', 'genotype', 'and', 'normal', 'CAG', 'repeat', 'length', '.'] | [0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-26 | Age of onset in Huntington disease:sex specific influence of apolipoprotein E genotype and normal CAG repeat length. | 1 |
['Age', 'of', 'onset', '(', 'AO', ')', 'of', 'Huntington', 'disease', '(', 'HD', ')', 'is', 'known', 'to', 'be', 'correlated', 'with', 'the', 'length', 'of', 'an', 'expanded', 'CAG', 'repeat', 'in', 'the', 'HD', 'gene', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-27 | Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene. | 1 |
['Apolipoprotein', 'E', '(', 'APOE', ')', 'genotype', ',', 'in', 'turn', ',', 'is', 'known', 'to', 'influence', 'AO', 'in', 'Alzheimer', 'disease', ',', 'rendering', 'the', 'APOE', 'gene', 'a', 'likely', 'candidate', 'to', 'affect', 'AO', 'in', 'other', 'neurological', 'diseases', 'too', '.'] | [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, 1, 2, 0, 0] | train-28 | Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too. | 1 |
['We', 'therefore', 'determined', 'APOE', 'genotype', 'and', 'normal', 'CAG', 'repeat', 'length', 'in', 'the', 'HD', 'gene', 'for', '138', 'HD', 'patients', 'who', 'were', 'previously', 'analysed', 'with', 'respect', 'to', 'CAG', 'repeat', 'length', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-29 | We therefore determined APOE genotype and normal CAG repeat length in the HD gene for 138 HD patients who were previously analysed with respect to CAG repeat length. | 1 |
['Genotyping', 'for', 'APOE', 'was', 'performed', 'blind', 'to', 'clinical', 'information', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-30 | Genotyping for APOE was performed blind to clinical information. | 0 |
['In', 'addition', 'to', 'highlighting', 'the', 'effect', 'of', 'the', 'normal', 'repeat', 'length', 'upon', 'AO', 'in', 'maternally', 'inherited', 'HD', 'and', 'in', 'male', 'patients', ',', 'we', 'show', 'that', 'the', 'APOE', 'epsilon2epsilon3', 'genotype', 'is', 'associated', 'with', 'significantly', 'earlier', 'AO', 'in', 'males', 'than', 'in', 'females', '.'] | [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] | train-31 | In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited HD and in male patients, we show that the APOE epsilon2epsilon3 genotype is associated with significantly earlier AO in males than in females. | 1 |
['Such', 'a', 'sex', 'difference', 'in', 'AO', 'was', 'not', 'apparent', 'for', 'any', 'of', 'the', 'other', 'APOE', 'genotypes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-32 | Such a sex difference in AO was not apparent for any of the other APOE genotypes. | 0 |
['Our', 'findings', 'suggest', 'that', 'subtle', 'differences', 'in', 'the', 'course', 'of', 'the', 'neurodegeneration', 'in', 'HD', 'may', 'allow', 'interacting', 'genes', 'to', 'exert', 'gender', 'specific', 'effects', 'upon', 'AO', '.'] | [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] | train-33 | Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO. | 1 |
['Familial', 'deficiency', 'of', 'the', 'seventh', 'component', 'of', 'complement', 'associated', 'with', 'recurrent', 'bacteremic', 'infections', 'due', 'to', 'Neisseria', '.'] | [1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 1, 2, 2, 2, 2, 0] | train-34 | Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria. | 1 |
['The', 'serum', 'of', 'a', '29', '-', 'year', 'old', 'woman', 'with', 'a', 'recent', 'episode', 'of', 'disseminated', 'gonococcal', 'infection', 'and', 'a', 'history', 'of', 'meningococcal', 'meningitis', 'and', 'arthritis', 'as', 'a', 'child', 'was', 'found', 'to', 'lack', 'serum', 'hemolytic', 'complement', 'activity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-35 | The serum of a 29-year old woman with a recent episode of disseminated gonococcal infection and a history of meningococcal meningitis and arthritis as a child was found to lack serum hemolytic complement activity. | 1 |
['The', 'seventh', 'component', 'of', 'complement', '(', 'C7', ')', 'was', 'not', 'detected', 'by', 'functional', 'or', 'immunochemical', 'assays', ',', 'whereas', 'other', 'components', 'were', 'normal', 'by', 'hemolytic', 'and', 'immunochemical', 'assessment', '.'] | [0, 0, 0, 0, 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-36 | The seventh component of complement (C7) was not detected by functional or immunochemical assays, whereas other components were normal by hemolytic and immunochemical assessment. | 0 |
['Her', 'fresh', 'serum', 'lacked', 'complement', '-', 'mediated', 'bactericidal', 'activity', 'against', 'Neisseria', 'gonorrhoeae', ',', 'but', 'the', 'addition', 'of', 'fresh', 'normal', 'serum', 'or', 'purified', 'C7', 'restored', 'bactericidal', 'activity', 'as', 'well', 'as', 'hemolytic', 'activity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 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-37 | Her fresh serum lacked complement-mediated bactericidal activity against Neisseria gonorrhoeae, but the addition of fresh normal serum or purified C7 restored bactericidal activity as well as hemolytic activity. | 0 |
['The', 'absence', 'of', 'functional', 'C7', 'activity', 'could', 'not', 'be', 'accounted', 'for', 'on', 'the', 'basis', 'of', 'an', 'inhibitor', '.'] | [0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-38 | The absence of functional C7 activity could not be accounted for on the basis of an inhibitor. | 1 |
['Opsonization', 'and', 'generation', 'of', 'chemotactic', 'activity', 'functioned', 'normally', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-39 | Opsonization and generation of chemotactic activity functioned normally. | 0 |
['Complete', 'absence', 'of', 'C7', 'was', 'also', 'found', 'in', 'one', 'sibling', 'who', 'had', 'the', 'clinical', 'syndrome', 'of', 'meningococcal', 'meningitis', 'and', 'arthritis', 'as', 'a', 'child', 'and', 'in', 'this', 'siblings', 'clinically', 'well', 'eight', '-', 'year', '-', 'old', 'son', '.'] | [1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-40 | Complete absence of C7 was also found in one sibling who had the clinical syndrome of meningococcal meningitis and arthritis as a child and in this siblings clinically well eight-year-old son. | 1 |
['HLA', 'histocompatibility', 'typing', 'of', 'the', 'family', 'members', 'did', 'not', 'demonstrate', 'evidence', 'for', 'genetic', 'linkage', 'of', 'C7', 'deficiency', 'with', 'the', 'major', 'histocompatibility', 'loci', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0] | train-41 | HLA histocompatibility typing of the family members did not demonstrate evidence for genetic linkage of C7 deficiency with the major histocompatibility loci. | 1 |
['This', 'report', 'represents', 'the', 'first', 'cases', 'of', 'C7', 'deficiency', 'associated', 'with', 'infectious', 'complications', 'and', 'suggests', 'that', 'bactericidal', 'activity', 'may', 'be', 'important', 'in', 'host', 'defense', 'against', 'bacteremic', 'neisseria', 'infections', '.'] | [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, 1, 2, 2, 0] | train-42 | This report represents the first cases of C7 deficiency associated with infectious complications and suggests that bactericidal activity may be important in host defense against bacteremic neisseria infections. | 1 |
['Increased', 'incidence', 'of', 'cancer', 'in', 'patients', 'with', 'cartilage', '-', 'hair', 'hypoplasia', '.'] | [0, 0, 0, 1, 0, 0, 0, 1, 2, 2, 2, 0] | train-43 | Increased incidence of cancer in patients with cartilage-hair hypoplasia. | 1 |
['OBJECTIVE', 'Previous', 'reports', 'have', 'suggested', 'an', 'increased', 'risk', 'of', 'cancer', 'among', 'patients', 'with', 'cartilage', '-', 'hair', 'hypoplasia', '(', 'CHH', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0] | train-44 | OBJECTIVE Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). | 1 |
['This', 'study', 'was', 'carried', 'out', 'to', 'further', 'evaluate', 'this', 'risk', 'among', 'patients', 'with', 'CHH', 'and', 'their', 'first', '-', 'degree', 'relatives', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0] | train-45 | This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives. | 1 |
['STUDY', 'DESIGN', 'One', 'hundred', 'twenty', '-', 'two', 'patients', 'with', 'CHH', 'were', 'identified', 'through', '2', 'countrywide', 'epidemiologic', 'surveys', 'in', '1974', 'and', 'in', '1986', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-46 | STUDY DESIGN One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. | 1 |
['Their', 'parents', 'and', 'nonaffected', 'siblings', 'were', 'identified', 'through', 'the', 'Population', 'Register', 'Center', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-47 | Their parents and nonaffected siblings were identified through the Population Register Center. | 0 |
['This', 'cohort', 'underwent', 'follow', '-', 'up', 'for', 'cancer', 'incidence', 'through', 'the', 'Finnish', 'Cancer', 'Registry', 'to', 'the', 'end', 'of', '1995', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-48 | This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995. | 1 |
['RESULTS', 'A', 'statistically', 'significant', 'excess', 'risk', 'of', 'cancer', 'was', 'seen', 'among', 'the', 'patients', 'with', 'CHH', '(', 'standardized', 'incidence', 'ratio', '6', '.', '9', ',', '95', '%', 'confidence', 'interval', '2', '.', '3', 'to', '16', ')', ',', 'which', 'was', 'mainly', 'attributable', 'to', 'non', '-', 'Hodgkins', 'lymphoma', '(', 'standardized', 'incidence', 'ratio', '90', ',', '95', '%', 'confidence', 'interval', '18', 'to', '264', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 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, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-49 | RESULTS A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6. 9, 95% confidence interval 2. 3 to 16), which was mainly attributable to non-Hodgkins lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). | 1 |
['In', 'addition', ',', 'a', 'significant', 'excess', 'risk', 'of', 'basal', 'cell', 'carcinoma', 'was', 'seen', '(', 'standardized', 'incidence', 'ratio', '35', ',', '95', '%', 'confidence', 'interval', '7', '.', '2', 'to', '102', ')', '.'] | [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, 0] | train-50 | In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7. 2 to 102). | 1 |
['The', 'cancer', 'incidence', 'among', 'the', 'siblings', 'or', 'the', 'parents', 'did', 'not', 'differ', 'from', 'the', 'average', 'cancer', 'incidence', 'in', 'the', 'Finnish', 'population', '.'] | [0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0] | train-51 | The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population. | 1 |
['CONCLUSIONS', 'This', 'study', 'confirms', 'an', 'increased', 'risk', 'of', 'cancer', ',', 'especially', 'non', '-', 'Hodgkins', 'lymphoma', ',', 'probably', 'attributable', 'to', 'defective', 'immunity', ',', 'among', 'patients', 'with', 'CHH', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-52 | CONCLUSIONS This study confirms an increased risk of cancer, especially non-Hodgkins lymphoma, probably attributable to defective immunity, among patients with CHH. | 1 |
['Genotype', 'and', 'phenotype', 'in', 'patients', 'with', 'dihydropyrimidine', 'dehydrogenase', 'deficiency', '.'] | [0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-53 | Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. | 1 |
['Dihydropyrimidine', 'dehydrogenase', '(', 'DPD', ')', 'deficiency', 'is', 'an', 'autosomal', 'recessive', 'disease', 'characterised', 'by', 'thymine', '-', 'uraciluria', 'in', 'homozygous', 'deficient', 'patients', 'and', 'has', 'been', 'associated', 'with', 'a', 'variable', 'clinical', 'phenotype', '.'] | [1, 2, 2, 2, 2, 2, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-54 | Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. | 1 |
['In', 'order', 'to', 'understand', 'the', 'genetic', 'and', 'phenotypic', 'basis', 'for', 'DPD', 'deficiency', ',', 'we', 'have', 'reviewed', '17', 'families', 'presenting', '22', 'patients', 'with', 'complete', 'deficiency', 'of', 'DPD', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-55 | In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. | 1 |
['In', 'this', 'group', 'of', 'patients', ',', '7', 'different', 'mutations', 'have', 'been', 'identified', ',', 'including', '2', 'deletions', '[', '295', '-', '298delTCAT', ',', '1897delC', ']', ',', '1', 'splice', '-', 'site', 'mutation', '[', 'IVS14', '+', '1G', '>', 'A', ')', ']', 'and', '4', 'missense', 'mutations', '(', '85T', '>', 'C', ',', '703C', '>', 'T', ',', '2658G', '>', 'A', ',', '2983G', '>', 'T', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-56 | In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14+1G>A)] and 4 missense mutations (85T>C, 703C>T, 2658G>A, 2983G>T). | 0 |
['Analysis', 'of', 'the', 'prevalence', 'of', 'the', 'various', 'mutations', 'among', 'DPD', 'patients', 'has', 'shown', 'that', 'the', 'G', '-', '-', '>', 'A', 'point', 'mutation', 'in', 'the', 'invariant', 'splice', 'donor', 'site', 'is', 'by', 'far', 'the', 'most', 'common', '(', '52', '%', ')', ',', 'whereas', 'the', 'other', 'six', 'mutations', 'are', 'less', 'frequently', 'observed', '.'] | [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, 0] | train-57 | Analysis of the prevalence of the various mutations among DPD patients has shown that the G-->A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed. | 1 |
['A', 'large', 'phenotypic', 'variability', 'has', 'been', 'observed', ',', 'with', 'convulsive', 'disorders', ',', 'motor', 'retardation', 'and', 'mental', 'retardation', 'being', 'the', 'most', 'abundant', 'manifestations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 1, 2, 0, 0, 0, 0, 0, 0] | train-58 | A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations. | 1 |
['A', 'clear', 'correlation', 'between', 'the', 'genotype', 'and', 'phenotype', 'has', 'not', 'been', 'established', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-59 | A clear correlation between the genotype and phenotype has not been established. | 0 |
['An', 'altered', 'beta', '-', 'alanine', ',', 'uracil', 'and', 'thymine', 'homeostasis', 'might', 'underlie', 'the', 'various', 'clinical', 'abnormalities', 'encountered', 'in', 'patients', 'with', 'DPD', 'deficiency', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0] | train-60 | An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency. | 1 |
['Fibroblast', 'growth', 'factor', 'homologous', 'factor', '2', '(', 'FHF2', ')', ':', 'gene', 'structure', ',', 'expression', 'and', 'mapping', 'to', 'the', 'Borjeson', '-', 'Forssman', '-', 'Lehmann', 'syndrome', 'region', 'in', 'Xq26', 'delineated', 'by', 'a', 'duplication', 'breakpoint', 'in', 'a', 'BFLS', '-', 'like', 'patient', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0] | train-61 | Fibroblast growth factor homologous factor 2 (FHF2):gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. | 1 |
['Borjeson', '-', 'Forssman', '-', 'Lehmann', 'syndrome', '(', 'BFLS', ')', 'is', 'a', 'syndromal', 'X', '-', 'linked', 'mental', 'retardation', ',', 'which', 'maps', 'by', 'linkage', 'to', 'the', 'q26', 'region', 'of', 'the', 'human', 'X', 'chromosome', '.'] | [1, 2, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-62 | Borjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome. | 1 |
['We', 'have', 'identified', 'a', 'male', 'patient', 'with', 'BFLS', '-', 'like', 'features', 'and', 'a', 'duplication', ',', '46', ',', 'Y', ',', 'dup', '(', 'X', ')', '(', 'q26q28', ')', ',', 'inherited', 'from', 'his', 'phenotypically', 'normal', 'mother', '.'] | [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-63 | We have identified a male patient with BFLS-like features and a duplication, 46, Y, dup (X) (q26q28), inherited from his phenotypically normal mother. | 1 |
['Fluorescence', 'in', 'situ', 'hybridisation', 'using', 'yeast', 'artificial', 'chromosome', 'clones', 'from', 'Xq26', 'localised', 'the', 'duplication', 'breakpoint', 'to', 'an', 'approximately', '400', '-', 'kb', 'interval', 'in', 'the', 'Xq26', '.'] | [0, 0, 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-64 | Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26. | 0 |
['3', 'region', 'between', 'DXS155', 'and', 'DXS294', '/', 'DXS730', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-65 | 3 region between DXS155 and DXS294/DXS730. | 0 |
['Database', 'searches', 'and', 'analysis', 'of', 'available', 'genomic', 'DNA', 'sequence', 'from', 'the', 'region', 'revealed', 'the', 'presence', 'of', 'the', 'fibroblast', 'growth', 'factor', 'homologous', 'factor', 'gene', ',', 'FHF2', ',', 'within', 'the', 'duplication', 'breakpoint', 'interval', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 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-66 | Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval. | 0 |
['The', 'gene', 'structure', 'of', 'FHF2', 'was', 'determined', 'and', 'two', 'new', 'exons', 'were', 'identified', ',', 'including', 'a', 'new', '5', 'end', 'exon', ',', '1B', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-67 | The gene structure of FHF2 was determined and two new exons were identified, including a new 5 end exon, 1B. | 0 |
['FHF2', 'is', 'a', 'large', 'gene', 'extending', 'over', 'approximately', '200', 'kb', 'in', 'Xq26', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-68 | FHF2 is a large gene extending over approximately 200 kb in Xq26. | 0 |
['3', 'and', 'is', 'composed', 'of', 'at', 'least', 'seven', 'exons', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-69 | 3 and is composed of at least seven exons. | 0 |
['It', 'shows', 'tissue', '-', 'specific', 'alternative', 'splicing', 'and', 'alternative', 'transcription', 'starts', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-70 | It shows tissue-specific alternative splicing and alternative transcription starts. | 0 |
['Northern', 'blot', 'hybridisation', 'showed', 'highest', 'expression', 'in', 'brain', 'and', 'skeletal', 'muscle', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-71 | Northern blot hybridisation showed highest expression in brain and skeletal muscle. | 0 |
['The', 'FHF2', 'gene', 'localisation', 'and', 'tissue', '-', 'specific', 'expression', 'pattern', 'suggest', 'it', 'to', 'be', 'a', 'candidate', 'gene', 'for', 'familial', 'cases', 'of', 'the', 'BFLS', 'syndrome', 'and', 'other', 'syndromal', 'and', 'non', '-', 'specific', 'forms', 'of', 'X', '-', 'linked', 'mental', 'retardation', 'mapping', 'to', 'the', 'region', '.'] | [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, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0] | train-72 | The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region. | 1 |
['Germline', 'E', '-', 'cadherin', 'gene', '(', 'CDH1', ')', 'mutations', 'predispose', 'to', 'familial', 'gastric', 'cancer', 'and', 'colorectal', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 0] | train-73 | Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. | 1 |
['Inherited', 'mutations', 'in', 'the', 'E', '-', 'cadherin', 'gene', '(', 'CDH1', ')', 'were', 'described', 'recently', 'in', 'three', 'Maori', 'kindreds', 'with', 'familial', 'gastric', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-74 | Inherited mutations in the E-cadherin gene (CDH1) were described recently in three Maori kindreds with familial gastric cancer. | 1 |
['Familial', 'gastric', 'cancer', 'is', 'genetically', 'heterogeneous', 'and', 'it', 'is', 'not', 'clear', 'what', 'proportion', 'of', 'gastric', 'cancer', 'susceptibility', 'in', 'non', '-', 'Maori', 'populations', 'is', 'due', 'to', 'germline', 'CDH1', 'mutations', '.'] | [1, 2, 2, 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] | train-75 | Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline CDH1 mutations. | 1 |
['Therefore', ',', 'we', 'screened', 'eight', 'familial', 'gastric', 'cancer', 'kindreds', 'of', 'British', 'and', 'Irish', 'origin', 'for', 'germline', 'CDH1', 'mutations', ',', 'by', 'SSCP', 'analysis', 'of', 'all', '16', 'exons', 'and', 'flanking', 'sequences', '.'] | [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, 0, 0, 0, 0] | train-76 | Therefore, we screened eight familial gastric cancer kindreds of British and Irish origin for germline CDH1 mutations, by SSCP analysis of all 16 exons and flanking sequences. | 1 |
['Each', 'family', 'contained', '(', 'i', ')', 'two', 'cases', 'of', 'gastric', 'cancer', 'in', 'first', 'degree', 'relatives', 'with', 'one', 'affected', 'before', 'age', '50', 'years', ';', 'or', '(', 'ii', ')', 'three', 'or', 'more', 'cases', 'of', 'gastric', 'cancer', '.'] | [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, 0, 1, 2, 0] | train-77 | Each family contained (i) two cases of gastric cancer in first degree relatives with one affected before age 50 years;or (ii) three or more cases of gastric cancer. | 1 |
['Novel', 'germline', 'CDH1', 'mutations', '(', 'a', 'nonsense', 'and', 'a', 'splice', 'site', ')', 'were', 'detected', 'in', 'two', 'families', '(', '25', '%', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-78 | Novel germline CDH1 mutations (a nonsense and a splice site) were detected in two families (25%). | 0 |
['Both', 'mutations', 'were', 'predicted', 'to', 'truncate', 'the', 'E', '-', 'cadherin', 'protein', 'in', 'the', 'signal', 'peptide', 'domain', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-79 | Both mutations were predicted to truncate the E-cadherin protein in the signal peptide domain. | 0 |
['In', 'one', 'family', 'there', 'was', 'evidence', 'of', 'non', '-', 'penetrance', 'and', 'susceptibility', 'to', 'both', 'gastric', 'and', 'colorectal', 'cancer', ';', 'thus', ',', 'in', 'addition', 'to', 'six', 'cases', 'of', 'gastric', 'cancer', ',', 'a', 'CDH1', 'mutation', 'carrier', 'developed', 'colorectal', 'cancer', 'at', 'age', '30', 'years', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0] | train-80 | In one family there was evidence of non-penetrance and susceptibility to both gastric and colorectal cancer;thus, in addition to six cases of gastric cancer, a CDH1 mutation carrier developed colorectal cancer at age 30 years. | 1 |
['We', 'have', 'confirmed', 'that', 'germline', 'mutations', 'in', 'the', 'CDH1', 'gene', 'cause', 'familial', 'gastric', 'cancer', 'in', 'non', '-', 'Maori', 'populations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0] | train-81 | We have confirmed that germline mutations in the CDH1 gene cause familial gastric cancer in non-Maori populations. | 1 |
['However', ',', 'only', 'a', 'minority', 'of', 'familial', 'gastric', 'cancers', 'can', 'be', 'accounted', 'for', 'by', 'CDH1', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0] | train-82 | However, only a minority of familial gastric cancers can be accounted for by CDH1 mutations. | 1 |
['Loss', 'of', 'E', '-', 'cadherin', 'function', 'has', 'been', 'implicated', 'in', 'the', 'pathogenesis', 'of', 'sporadic', 'colorectal', 'and', 'other', 'cancers', ',', 'and', 'our', 'findings', 'provide', 'evidence', 'that', 'germline', 'CDH1', 'mutations', 'predispose', 'to', 'early', 'onset', 'colorectal', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | train-83 | Loss of E-cadherin function has been implicated in the pathogenesis of sporadic colorectal and other cancers, and our findings provide evidence that germline CDH1 mutations predispose to early onset colorectal cancer. | 1 |
['Thus', ',', 'CDH1', 'should', 'be', 'investigated', 'as', 'a', 'cause', 'of', 'inherited', 'susceptibility', 'to', 'both', 'gastric', 'and', 'colorectal', 'cancers', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-84 | Thus, CDH1 should be investigated as a cause of inherited susceptibility to both gastric and colorectal cancers. | 1 |
['A', 'zinc', 'finger', 'truncation', 'of', 'murine', 'WT1', 'results', 'in', 'the', 'characteristic', 'urogenital', 'abnormalities', 'of', 'Denys', '-', 'Drash', 'syndrome', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 2, 2, 0] | train-85 | A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. | 1 |
['The', 'Wilms', 'tumor', '-', 'suppressor', 'gene', ',', 'WT1', ',', 'plays', 'a', 'key', 'role', 'in', 'urogenital', 'development', ',', 'and', 'WT1', 'dysfunction', 'is', 'implicated', 'in', 'both', 'neoplastic', '(', 'Wilms', 'tumor', ',', 'mesothelioma', ',', 'leukemias', ',', 'and', 'breast', 'cancer', ')', 'and', 'nonneoplastic', '(', 'glomerulosclerosis', ')', 'disease', '.'] | [0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 0, 1, 2, 0, 1, 0, 1, 0, 0, 1, 2, 0, 0, 1, 0, 1, 0, 0, 0] | train-86 | The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease. | 1 |
['The', 'analysis', 'of', 'diseases', 'linked', 'specifically', 'with', 'WT1', 'mutations', ',', 'such', 'as', 'Denys', '-', 'Drash', 'syndrome', '(', 'DDS', ')', ',', 'can', 'provide', 'valuable', 'insight', 'concerning', 'the', 'role', 'of', 'WT1', 'in', 'development', 'and', 'disease', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-87 | The analysis of diseases linked specifically with WT1 mutations, such as Denys-Drash syndrome (DDS), can provide valuable insight concerning the role of WT1 in development and disease. | 1 |
['DDS', 'is', 'a', 'rare', 'childhood', 'disease', 'characterized', 'by', 'a', 'nephropathy', 'involving', 'mesangial', 'sclerosis', ',', 'XY', 'pseudohermaphroditism', ',', 'and', '/', 'or', 'Wilms', 'tumor', '(', 'WT', ')', '.'] | [1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 0, 1, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0] | train-88 | DDS is a rare childhood disease characterized by a nephropathy involving mesangial sclerosis, XY pseudohermaphroditism, and/or Wilms tumor (WT). | 1 |
['DDS', 'patients', 'are', 'constitutionally', 'heterozygous', 'for', 'exonic', 'point', 'mutations', 'in', 'WT1', ',', 'which', 'include', 'mutations', 'predicted', 'to', 'truncate', 'the', 'protein', 'within', 'the', 'C', '-', 'terminal', 'zinc', 'finger', '(', 'ZF', ')', 'region', '.'] | [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] | train-89 | DDS patients are constitutionally heterozygous for exonic point mutations in WT1, which include mutations predicted to truncate the protein within the C-terminal zinc finger (ZF) region. | 1 |
['We', 'report', 'that', 'heterozygosity', 'for', 'a', 'targeted', 'murine', 'Wt1', 'allele', ',', 'Wt1', '(', 'tmT396', ')', ',', 'which', 'truncates', 'ZF3', 'at', 'codon', '396', ',', 'induces', 'mesangial', 'sclerosis', 'characteristic', 'of', 'DDS', 'in', 'adult', 'heterozygous', 'and', 'chimeric', 'mice', '.'] | [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, 1, 0, 0, 0, 0, 0, 0, 0] | train-90 | We report that heterozygosity for a targeted murine Wt1 allele, Wt1 (tmT396), which truncates ZF3 at codon 396, induces mesangial sclerosis characteristic of DDS in adult heterozygous and chimeric mice. | 1 |
['Male', 'genital', 'defects', 'also', 'were', 'evident', 'and', 'there', 'was', 'a', 'single', 'case', 'of', 'Wilms', 'tumor', 'in', 'which', 'the', 'transcript', 'of', 'the', 'nontargeted', 'allele', 'showed', 'an', 'exon', '9', 'skipping', 'event', ',', 'implying', 'a', 'causal', 'link', 'between', 'Wt1', 'dysfunction', 'and', 'Wilms', 'tumorigenesis', 'in', 'mice', '.'] | [1, 2, 2, 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, 1, 2, 0, 1, 2, 0, 0, 0] | train-91 | Male genital defects also were evident and there was a single case of Wilms tumor in which the transcript of the nontargeted allele showed an exon 9 skipping event, implying a causal link between Wt1 dysfunction and Wilms tumorigenesis in mice. | 1 |
['However', ',', 'the', 'mutant', 'WT1', '(', 'tmT396', ')', 'protein', 'accounted', 'for', 'only', '5', '%', 'of', 'WT1', 'in', 'both', 'heterozygous', 'embryonic', 'stem', 'cells', 'and', 'the', 'WT', '.'] | [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-92 | However, the mutant WT1 (tmT396) protein accounted for only 5% of WT1 in both heterozygous embryonic stem cells and the WT. | 1 |
['This', 'has', 'implications', 'regarding', 'the', 'mechanism', 'by', 'which', 'the', 'mutant', 'allele', 'exerts', 'its', 'effect', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-93 | This has implications regarding the mechanism by which the mutant allele exerts its effect. | 0 |
['Mechanism', 'of', 'increased', 'iron', 'absorption', 'in', 'murine', 'model', 'of', 'hereditary', 'hemochromatosis', ':', 'increased', 'duodenal', 'expression', 'of', 'the', 'iron', 'transporter', 'DMT1', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-94 | Mechanism of increased iron absorption in murine model of hereditary hemochromatosis:increased duodenal expression of the iron transporter DMT1. | 1 |
['Hereditary', 'hemochromatosis', '(', 'HH', ')', 'is', 'a', 'common', 'autosomal', 'recessive', 'disorder', 'characterized', 'by', 'tissue', 'iron', 'deposition', 'secondary', 'to', 'excessive', 'dietary', 'iron', 'absorption', '.'] | [1, 2, 0, 1, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-95 | Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption. | 1 |
['We', 'recently', 'reported', 'that', 'HFE', ',', 'the', 'protein', 'defective', 'in', 'HH', ',', 'was', 'physically', 'associated', 'with', 'the', 'transferrin', 'receptor', '(', 'TfR', ')', 'in', 'duodenal', 'crypt', 'cells', 'and', 'proposed', 'that', 'mutations', 'in', 'HFE', 'attenuate', 'the', 'uptake', 'of', 'transferrin', '-', 'bound', 'iron', 'from', 'plasma', 'by', 'duodenal', 'crypt', 'cells', ',', 'leading', 'to', 'up', '-', 'regulation', 'of', 'transporters', 'for', 'dietary', 'iron', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-96 | We recently reported that HFE, the protein defective in HH, was physically associated with the transferrin receptor (TfR) in duodenal crypt cells and proposed that mutations in HFE attenuate the uptake of transferrin-bound iron from plasma by duodenal crypt cells, leading to up-regulation of transporters for dietary iron. | 1 |
['Here', ',', 'we', 'tested', 'the', 'hypothesis', 'that', 'HFE', '-', '/', '-', 'mice', 'have', 'increased', 'duodenal', 'expression', 'of', 'the', 'divalent', 'metal', 'transporter', '(', 'DMT1', ')', '.'] | [0, 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-97 | Here, we tested the hypothesis that HFE-/-mice have increased duodenal expression of the divalent metal transporter (DMT1). | 0 |
['By', '4', 'weeks', 'of', 'age', ',', 'the', 'HFE', '-', '/', '-', 'mice', 'demonstrated', 'iron', 'loading', 'when', 'compared', 'with', 'HFE', '+', '/', '+', 'littermates', ',', 'with', 'elevated', 'transferrin', 'saturations', '(', '68', '.', '4', '%', 'vs', '.', '49', '.', '8', '%', ')', 'and', 'elevated', 'liver', 'iron', 'concentrations', '(', '985', 'micrograms', 'vs', '.', '381', 'micrograms', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-98 | By 4 weeks of age, the HFE-/-mice demonstrated iron loading when compared with HFE +/+ littermates, with elevated transferrin saturations (68. 4% vs. 49. 8%) and elevated liver iron concentrations (985 micrograms vs. 381 micrograms). | 0 |
['By', 'using', 'Northern', 'blot', 'analyses', ',', 'we', 'quantitated', 'duodenal', 'expression', 'of', 'both', 'classes', 'of', 'DMT1', 'transcripts', 'one', 'containing', 'an', 'iron', 'responsive', 'element', '(', 'IRE', ')', ',', 'called', 'DMT1', '(', 'IRE', ')', ',', 'and', 'one', 'containing', 'no', 'IRE', ',', 'called', 'DMT1', '(', 'non', '-', 'IRE', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-99 | By using Northern blot analyses, we quantitated duodenal expression of both classes of DMT1 transcripts one containing an iron responsive element (IRE), called DMT1 (IRE), and one containing no IRE, called DMT1 (non-IRE). | 0 |
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