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['The', 'G230E', 'mutation', 'causes', 'substantial', 'changes', 'in', 'anion', 'and', 'cation', 'selectivity', 'as', 'well', 'as', 'a', 'fundamental', 'change', 'in', 'rectification', 'of', 'the', 'current', '-', 'voltage', 'relationship', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-767 | The G230E mutation causes substantial changes in anion and cation selectivity as well as a fundamental change in rectification of the current-voltage relationship. | 0 |
['Whereas', 'wild', '-', 'type', 'channels', 'are', 'characterized', 'by', 'pronounced', 'inward', 'rectification', 'and', 'a', 'Cl', '>', 'thiocyanate', '>', 'Br', '>', 'NO', '(', '3', ')', '>', 'I', '>', 'CH', '(', '3', ')', 'SO', '(', '3', ')', 'selectivity', ',', 'G230E', 'exhibits', 'outward', 'rectification', 'at', 'positive', 'potentials', 'and', 'a', 'thiocyanate', '>', 'NO', '(', '3', ')', '>', 'I', '>', 'Br', '>', 'Cl', '>', 'CH', '(', '3', ')', 'SO', '(', '3', ')', 'selectivity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-768 | Whereas wild-type channels are characterized by pronounced inward rectification and a Cl>thiocyanate>Br>NO (3)>I>CH (3) SO (3) selectivity, G230E exhibits outward rectification at positive potentials and a thiocyanate>NO (3)>I>Br>Cl>CH (3) SO (3) selectivity. | 0 |
['Furthermore', ',', 'the', 'cation', '-', 'to', '-', 'anion', 'permeability', 'ratio', 'of', 'the', 'mutant', 'is', 'much', 'greater', 'than', 'that', 'of', 'the', 'wild', '-', 'type', 'channel', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-769 | Furthermore, the cation-to-anion permeability ratio of the mutant is much greater than that of the wild-type channel. | 0 |
['Voltage', '-', 'dependent', 'blocks', 'by', 'intracellular', 'and', 'extracellular', 'iodide', 'help', 'to', 'distinguish', 'two', 'distinct', 'ion', 'binding', 'sites', 'within', 'the', 'hClC', '-', '1', 'conduction', 'pathway', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-770 | Voltage-dependent blocks by intracellular and extracellular iodide help to distinguish two distinct ion binding sites within the hClC-1 conduction pathway. | 0 |
['Both', 'binding', 'sites', 'are', 'preserved', 'in', 'the', 'mutant', 'but', 'have', 'decreased', 'affinities', 'for', 'iodide', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-771 | Both binding sites are preserved in the mutant but have decreased affinities for iodide. | 0 |
['These', 'findings', 'suggest', 'that', 'Gly', '230', 'is', 'critical', 'for', 'normal', 'ion', 'conductance', 'in', 'hClC', '-', '1', 'and', 'that', 'this', 'residue', 'resides', 'within', 'the', 'channel', 'pore', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-772 | These findings suggest that Gly 230 is critical for normal ion conductance in hClC-1 and that this residue resides within the channel pore.. | 0 |
['The', 'incidence', 'of', 'PAX6', 'mutation', 'in', 'patients', 'with', 'simple', 'aniridia', ':', 'an', 'evaluation', 'of', 'mutation', 'detection', 'in', '12', 'cases', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-773 | The incidence of PAX6 mutation in patients with simple aniridia:an evaluation of mutation detection in 12 cases. | 1 |
['Twelve', 'aniridia', 'patients', ',', 'five', 'with', 'a', 'family', 'history', 'and', 'seven', 'presumed', 'to', 'be', 'sporadic', ',', 'were', 'exhaustively', 'screened', 'in', 'order', 'to', 'test', 'what', 'proportion', 'of', 'people', 'with', 'aniridia', ',', 'uncomplicated', 'by', 'associated', 'anomalies', ',', 'carry', 'mutations', 'in', 'the', 'human', 'PAX6', 'gene', '.'] | [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, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-774 | Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. | 1 |
['Mutations', 'were', 'detected', 'in', '90', '%', 'of', 'the', 'cases', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-775 | Mutations were detected in 90% of the cases. | 0 |
['Three', 'mutation', 'detection', 'techniques', 'were', 'used', 'to', 'determine', 'if', 'one', 'method', 'was', 'superior', 'for', 'this', 'gene', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-776 | Three mutation detection techniques were used to determine if one method was superior for this gene. | 0 |
['The', 'protein', 'truncation', 'test', '(', 'PTT', ')', 'was', 'used', 'on', 'RT', '-', 'PCR', 'products', ',', 'SSCP', 'on', 'genomic', 'PCR', 'amplifications', ',', 'and', 'chemical', 'cleavage', 'of', 'mismatch', 'on', 'both', 'RT', '-', 'PCR', 'and', 'genomic', 'amplifications', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-777 | The protein truncation test (PTT) was used on RT-PCR products, SSCP on genomic PCR amplifications, and chemical cleavage of mismatch on both RT-PCR and genomic amplifications. | 0 |
['For', 'RT', '-', 'PCR', 'products', ',', 'only', 'the', 'translated', 'portion', 'of', 'the', 'gene', 'was', 'screened', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-778 | For RT-PCR products, only the translated portion of the gene was screened. | 0 |
['On', 'genomic', 'products', 'exons', '1', 'to', '13', '(', 'including', '740', 'bp', 'of', 'the', '3', 'untranslated', 'sequence', 'and', 'all', 'intron', '/', 'exon', 'boundaries', ')', 'were', 'screened', ',', 'as', 'was', 'a', 'neuroretina', 'specific', 'enhancer', 'in', 'intron', '4', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-779 | On genomic products exons 1 to 13 (including 740 bp of the 3 untranslated sequence and all intron/exon boundaries) were screened, as was a neuroretina specific enhancer in intron 4. | 0 |
['Ten', 'of', 'the', 'possible', '12', 'mutations', 'in', 'the', 'five', 'familial', 'cases', 'and', 'five', 'of', 'the', 'sporadic', 'patients', 'were', 'found', ',', 'all', 'of', 'which', 'conformed', 'to', 'a', 'functional', 'outcome', 'of', 'haploinsufficiency', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-780 | Ten of the possible 12 mutations in the five familial cases and five of the sporadic patients were found, all of which conformed to a functional outcome of haploinsufficiency. | 0 |
['Five', 'were', 'splice', 'site', 'mutations', '(', 'one', 'in', 'the', 'donor', 'site', 'of', 'intron', '4', ',', 'two', 'in', 'the', 'donor', 'site', 'of', 'intron', '6', ',', 'one', 'in', 'each', 'of', 'the', 'acceptor', 'sites', 'of', 'introns', '8', 'and', '9', ')', 'and', 'five', 'were', 'nonsense', 'mutations', 'in', 'exons', '8', ',', '9', ',', '10', ',', '11', ',', 'and', '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, 0, 0, 0, 0, 0, 0, 0] | validation-781 | Five were splice site mutations (one in the donor site of intron 4, two in the donor site of intron 6, one in each of the acceptor sites of introns 8 and 9) and five were nonsense mutations in exons 8, 9, 10, 11, and 12. | 0 |
['SSCP', 'analysis', 'of', 'individually', 'amplified', 'exons', ',', 'with', 'which', 'nine', 'of', 'the', '10', 'mutations', 'were', 'seen', ',', 'was', 'the', 'most', 'useful', 'detection', 'method', 'for', 'PAX6', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-782 | SSCP analysis of individually amplified exons, with which nine of the 10 mutations were seen, was the most useful detection method for PAX6.. | 0 |
['Insulin', 'gene', 'region', 'contributes', 'to', 'genetic', 'susceptibility', 'to', ',', 'but', 'may', 'not', 'to', 'low', 'incidence', 'of', ',', 'insulin', '-', 'dependent', 'diabetes', 'mellitus', 'in', 'Japanese', '.'] | [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] | validation-783 | Insulin gene region contributes to genetic susceptibility to, but may not to low incidence of, insulin-dependent diabetes mellitus in Japanese. | 1 |
['In', 'the', 'Caucasian', 'population', ',', 'it', 'has', 'been', 'demonstrated', 'that', 'the', 'insulin', 'gene', '(', 'INS', ')', 'region', 'contains', 'the', 'insulin', '-', 'dependent', 'diabetes', 'mellitus', 'locus', '(', 'IDDM2', ')', '.'] | [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] | validation-784 | In the Caucasian population, it has been demonstrated that the insulin gene (INS) region contains the insulin-dependent diabetes mellitus locus (IDDM2). | 1 |
['In', 'the', 'Japanese', 'population', ',', 'however', ',', 'there', 'has', 'been', 'no', 'report', 'demonstrating', 'the', 'contribution', 'of', 'IDDM2', 'to', 'the', 'pathogenesis', 'of', 'IDDM', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | validation-785 | In the Japanese population, however, there has been no report demonstrating the contribution of IDDM2 to the pathogenesis of IDDM. | 1 |
['We', 'conducted', 'an', 'association', 'study', 'of', 'IDDM', 'in', 'a', 'large', 'number', 'of', 'Japanese', 'subjects', 'with', 'multiple', 'polymorphisms', 'in', 'INS', 'region', '.'] | [0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-786 | We conducted an association study of IDDM in a large number of Japanese subjects with multiple polymorphisms in INS region. | 1 |
['We', 'found', 'a', 'significant', 'association', 'of', 'the', 'INS', 'region', 'with', 'IDDM', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | validation-787 | We found a significant association of the INS region with IDDM. | 1 |
['Alleles', 'positively', 'associated', 'with', 'IDDM', 'in', 'INS', 'region', 'were', 'the', 'same', 'as', 'those', 'positively', '-', 'associated', 'with', 'IDDM', 'in', 'Caucasian', 'population', ',', 'although', 'positively', '-', 'associated', 'alleles', 'are', 'very', 'common', '(', 'allele', 'frequencies', '>', '0', '.', '9', ')', 'in', 'the', 'Japanese', 'general', 'population', '.'] | [0, 0, 0, 0, 1, 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] | validation-788 | Alleles positively associated with IDDM in INS region were the same as those positively-associated with IDDM in Caucasian population, although positively-associated alleles are very common (allele frequencies>0. 9) in the Japanese general population. | 1 |
['These', 'data', 'suggest', 'that', 'IDDM2', 'is', 'involved', 'in', 'the', 'genetic', 'susceptibility', 'to', 'IDDM', 'in', 'Japanese', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0] | validation-789 | These data suggest that IDDM2 is involved in the genetic susceptibility to IDDM in Japanese. | 1 |
['The', 'high', 'frequencies', 'of', 'disease', '-', 'associated', 'alleles', 'in', 'the', 'general', 'population', 'suggest', 'that', 'IDDM2', 'locus', 'is', 'not', 'responsible', 'for', 'the', 'low', 'incidence', 'of', 'IDDM', 'in', 'Japanese', '.'] | [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] | validation-790 | The high frequencies of disease-associated alleles in the general population suggest that IDDM2 locus is not responsible for the low incidence of IDDM in Japanese. | 1 |
['The', 'human', 'complement', 'C9', 'gene', ':', 'identification', 'of', 'two', 'mutations', 'causing', 'deficiency', 'and', 'revision', 'of', 'the', 'gene', 'structure', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-791 | The human complement C9 gene:identification of two mutations causing deficiency and revision of the gene structure. | 0 |
['The', 'ninth', 'component', 'of', 'human', 'complement', '(', 'C9', ')', 'is', 'the', 'last', 'of', 'the', 'terminal', 'complement', 'components', 'creating', 'the', 'membrane', 'attack', 'complex', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-792 | The ninth component of human complement (C9) is the last of the terminal complement components creating the membrane attack complex. | 0 |
['C9', 'is', 'a', 'single', '-', 'chain', 'serum', 'protein', 'that', 'is', 'encoded', 'by', 'a', 'gene', 'located', 'on', 'chromosome', '5p', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-793 | C9 is a single-chain serum protein that is encoded by a gene located on chromosome 5p. | 0 |
['Deficiency', 'of', 'terminal', 'complement', 'components', 'is', 'generally', 'associated', 'with', 'recurrent', 'neisseria', 'infections', '.'] | [1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 1, 2, 0] | validation-794 | Deficiency of terminal complement components is generally associated with recurrent neisseria infections. | 1 |
['We', 'studied', 'a', 'previously', 'described', 'Swiss', 'family', 'with', 'inherited', 'C9', 'deficiency', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | validation-795 | We studied a previously described Swiss family with inherited C9 deficiency. | 1 |
['To', 'identify', 'the', 'genetic', 'basis', 'of', 'C9', 'deficiency', ',', 'we', 'developed', 'an', 'approach', 'using', 'exon', '-', 'specific', 'PCR', 'and', 'direct', 'DNA', 'sequencing', '.'] | [0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-796 | To identify the genetic basis of C9 deficiency, we developed an approach using exon-specific PCR and direct DNA sequencing. | 1 |
['As', 'a', 'cause', 'of', 'C9', 'deficiency', ',', 'we', 'found', 'two', 'different', 'point', 'mutations', ',', 'both', 'generating', 'TGA', 'stop', 'codons', 'in', 'the', 'coding', 'sequence', '.'] | [0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-797 | As a cause of C9 deficiency, we found two different point mutations, both generating TGA stop codons in the coding sequence. | 1 |
['One', 'mutation', ',', 'a', 'C', 'to', 'A', 'exchange', ',', 'was', 'detected', 'in', 'exon', '2', 'at', 'cDNA', 'position', '166', ',', 'the', 'other', ',', 'a', 'C', 'to', 'T', 'exchange', ',', 'was', 'located', 'in', 'exon', '4', '(', 'cDNA', 'position', '464', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-798 | One mutation, a C to A exchange, was detected in exon 2 at cDNA position 166, the other, a C to T exchange, was located in exon 4 (cDNA position 464). | 0 |
['In', 'family', 'studies', 'of', 'three', 'first', '-', 'degree', 'relatives', 'with', 'heterozygous', 'C9', 'deficiency', ',', 'we', 'demonstrated', 'that', 'the', 'two', 'mutations', 'are', 'segregating', 'independently', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-799 | In family studies of three first-degree relatives with heterozygous C9 deficiency, we demonstrated that the two mutations are segregating independently. | 1 |
['Therefore', ',', 'these', 'mutations', 'are', 'sufficient', 'to', 'explain', 'the', 'complete', 'deficiency', 'of', 'both', 'the', 'probands', 'studied', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-800 | Therefore, these mutations are sufficient to explain the complete deficiency of both the probands studied. | 0 |
['DNA', 'sequencing', 'of', 'the', 'exon', '-', 'intron', 'junctions', 'revealed', 'a', 'number', 'of', 'revisions', 'regarding', 'the', 'boundaries', 'between', 'exons', '4', ',', '5', ',', 'and', '6', 'as', 'well', 'as', 'between', 'exons', '10', 'and', '11', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-801 | DNA sequencing of the exon-intron junctions revealed a number of revisions regarding the boundaries between exons 4, 5, and 6 as well as between exons 10 and 11. | 0 |
['No', 'additional', 'introns', 'were', 'detected', 'in', 'exons', '6', 'and', '10', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-802 | No additional introns were detected in exons 6 and 10. | 0 |
['Furthermore', ',', 'DNA', 'marker', 'studies', 'were', 'conducted', 'using', 'known', 'polymorphisms', 'of', 'the', 'C6', ',', 'C7', ',', 'and', 'C9', 'genes', ',', 'confirming', 'the', 'linkage', 'of', 'the', 'observed', 'C9', 'mutations', 'with', 'defined', 'haplotypes', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-803 | Furthermore, DNA marker studies were conducted using known polymorphisms of the C6, C7, and C9 genes, confirming the linkage of the observed C9 mutations with defined haplotypes.. | 0 |
['BRCA1', 'mutations', 'in', 'women', 'attending', 'clinics', 'that', 'evaluate', 'the', 'risk', 'of', 'breast', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-804 | BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. | 1 |
['BACKGROUND', 'To', 'define', 'the', 'incidence', 'of', 'BRCA1', 'mutations', 'among', 'patients', 'seen', 'in', 'clinics', 'that', 'evaluate', 'the', 'risk', 'of', 'breast', 'cancer', ',', 'we', 'analyzed', 'DNA', 'samples', 'from', 'women', 'seen', 'in', 'this', 'setting', 'and', 'constructed', 'probability', 'tables', 'to', 'provide', 'estimates', 'of', 'the', 'likelihood', 'of', 'finding', 'a', 'BRCA1', 'mutation', 'in', 'individual', 'families', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-805 | BACKGROUND To define the incidence of BRCA1 mutations among patients seen in clinics that evaluate the risk of breast cancer, we analyzed DNA samples from women seen in this setting and constructed probability tables to provide estimates of the likelihood of finding a BRCA1 mutation in individual families. | 1 |
['METHODS', 'Clinical', 'information', ',', 'family', 'histories', ',', 'and', 'blood', 'for', 'DNA', 'analysis', 'were', 'obtained', 'from', '263', 'women', 'with', 'breast', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-806 | METHODS Clinical information, family histories, and blood for DNA analysis were obtained from 263 women with breast cancer. | 1 |
['Conformation', '-', 'sensitive', 'gel', 'electrophoresis', 'and', 'DNA', 'sequencing', 'were', 'used', 'to', 'identify', 'BRCA1', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-807 | Conformation-sensitive gel electrophoresis and DNA sequencing were used to identify BRCA1 mutations. | 0 |
['RESULTS', 'BRCA1', 'mutations', 'were', 'identified', 'in', '16', 'percent', 'of', 'women', 'with', 'a', 'family', 'history', 'of', 'breast', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-808 | RESULTS BRCA1 mutations were identified in 16 percent of women with a family history of breast cancer. | 1 |
['Only', '7', 'percent', 'of', 'women', 'from', 'families', 'with', 'a', 'history', 'of', 'breast', 'cancer', 'but', 'not', 'ovarian', 'cancer', 'had', 'BRCA1', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 1, 2, 0, 0, 0, 0] | validation-809 | Only 7 percent of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations. | 1 |
['The', 'rates', 'were', 'higher', 'among', 'women', 'from', 'families', 'with', 'a', 'history', 'of', 'both', 'breast', 'and', 'ovarian', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | validation-810 | The rates were higher among women from families with a history of both breast and ovarian cancer. | 1 |
['Among', 'family', 'members', ',', 'an', 'average', 'age', 'of', 'less', 'than', '55', 'years', 'at', 'the', 'diagnosis', 'of', 'breast', 'cancer', ',', 'the', 'presence', 'of', 'ovarian', 'cancer', ',', 'the', 'presence', 'of', 'breast', 'and', 'ovarian', 'cancer', 'in', 'the', 'same', 'woman', ',', 'and', 'Ashkenazi', 'Jewish', 'ancestry', 'were', 'all', 'associated', 'with', 'an', 'increased', 'risk', 'of', 'detecting', 'a', 'BRCA1', 'mutation', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0, 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] | validation-811 | Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation. | 1 |
['No', 'association', 'was', 'found', 'between', 'the', 'presence', 'of', 'bilateral', 'breast', 'cancer', 'or', 'the', 'number', 'of', 'breast', 'cancers', 'in', 'a', 'family', 'and', 'the', 'detection', 'of', 'a', 'BRCA1', 'mutation', ',', 'or', 'between', 'the', 'position', 'of', 'the', 'mutation', 'in', 'the', 'BRCA1', 'gene', 'and', 'the', 'presence', 'of', 'ovarian', 'cancer', 'in', 'a', 'family', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 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, 1, 2, 0, 0, 0, 0] | validation-812 | No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation, or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family. | 1 |
['CONCLUSIONS', 'Among', 'women', 'with', 'breast', 'cancer', 'and', 'a', 'family', 'history', 'of', 'the', 'disease', ',', 'the', 'percentage', 'with', 'BRCA1', 'coding', '-', 'region', 'mutations', 'is', 'less', 'than', 'the', '45', 'percent', 'predicted', 'by', 'genetic', '-', 'linkage', 'analysis', '.'] | [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] | validation-813 | CONCLUSIONS Among women with breast cancer and a family history of the disease, the percentage with BRCA1 coding-region mutations is less than the 45 percent predicted by genetic-linkage analysis. | 1 |
['These', 'results', 'suggest', 'that', 'even', 'in', 'a', 'referral', 'clinic', 'specializing', 'in', 'screening', 'women', 'from', 'high', '-', 'risk', 'families', ',', 'the', 'majority', 'of', 'tests', 'for', 'BRCA1', 'mutations', 'will', 'be', 'negative', 'and', 'therefore', 'uninformative', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-814 | These results suggest that even in a referral clinic specializing in screening women from high-risk families, the majority of tests for BRCA1 mutations will be negative and therefore uninformative.. | 0 |
['Mutations', 'in', 'the', 'arginine', '-', 'rich', 'protein', 'gene', '(', 'ARP', ')', 'in', 'pancreatic', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-815 | Mutations in the arginine-rich protein gene (ARP) in pancreatic cancer. | 1 |
['The', 'ARP', 'gene', 'encodes', 'a', 'highly', 'conserved', 'arginine', '-', 'rich', 'protein', 'from', 'chromosomal', 'band', '3p21', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-816 | The ARP gene encodes a highly conserved arginine-rich protein from chromosomal band 3p21. | 0 |
['1', '1', '.'] | [0, 0, 0] | validation-817 | 1 1. | 0 |
['At', 'the', 'cytogenetic', 'level', 'this', 'region', 'is', 'frequently', 'deleted', 'in', 'a', 'variety', 'of', 'different', 'solid', 'tumors', ',', 'although', 'not', 'in', 'pancreatic', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0] | validation-818 | At the cytogenetic level this region is frequently deleted in a variety of different solid tumors, although not in pancreatic cancer. | 1 |
['We', 'have', 'reported', 'the', 'presence', 'of', 'a', 'specific', 'mutation', '(', 'ATG50', '-', '-', '>', 'AGG', ')', 'or', 'deletion', 'of', 'codon', '50', 'of', 'the', 'ARP', 'gene', 'in', 'different', 'tumor', 'types', '(', 'Shridhar', 'et', 'al', '.', ',', '1996', ',', '1996a', ')', '.'] | [0, 0, 0, 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] | validation-819 | We have reported the presence of a specific mutation (ATG50-->AGG) or deletion of codon 50 of the ARP gene in different tumor types (Shridhar et al., 1996, 1996a). | 1 |
['In', 'the', 'present', 'study', ',', 'we', 'have', 'observed', 'mutations', 'involving', 'codon', '50', 'in', '11', 'of', '37', 'pancreatic', 'tumors', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-820 | In the present study, we have observed mutations involving codon 50 in 11 of 37 pancreatic tumors. | 1 |
['The', 'frequency', 'of', 'codon', '50', 'mutation', 'is', 'roughly', 'the', 'same', 'in', 'pancreatic', 'tumors', 'as', 'in', 'the', 'other', 'types', 'of', 'tumors', 'previously', 'examined', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0] | validation-821 | The frequency of codon 50 mutation is roughly the same in pancreatic tumors as in the other types of tumors previously examined. | 1 |
['In', 'addition', ',', 'we', 'have', 'detected', 'mutations', 'at', 'codon', '51', 'in', 'multiple', 'PCR', 'subclones', 'in', 'two', 'other', 'pancreatic', 'tumors', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-822 | In addition, we have detected mutations at codon 51 in multiple PCR subclones in two other pancreatic tumors. | 1 |
['Mutations', 'in', 'the', 'ARP', 'gene', 'are', 'thus', 'commonly', 'observed', 'in', 'pancreatic', 'cancer', ',', 'as', 'well', 'as', 'many', 'other', 'cancers', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 0] | validation-823 | Mutations in the ARP gene are thus commonly observed in pancreatic cancer, as well as many other cancers. | 1 |
['Difficulties', 'in', 'the', 'ascertainment', 'of', 'C9', 'deficiency', ':', 'lessons', 'to', 'be', 'drawn', 'from', 'a', 'compound', 'heterozygote', 'C9', '-', 'deficient', 'subject', '.'] | [0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0] | validation-824 | Difficulties in the ascertainment of C9 deficiency:lessons to be drawn from a compound heterozygote C9-deficient subject. | 1 |
['A', 'group', 'of', 'patients', 'with', 'long', '-', 'surviving', 'mismatched', 'kidney', 'allografts', 'were', 'investigated', 'for', 'complement', 'function', 'using', 'haemolytic', 'assays', 'in', 'agarose', 'gels', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-825 | A group of patients with long-surviving mismatched kidney allografts were investigated for complement function using haemolytic assays in agarose gels. | 0 |
['One', 'patient', 'was', 'found', 'to', 'have', 'no', 'alternative', 'pathway', 'activity', 'but', 'a', 'low', 'normal', 'classical', 'pathway', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-826 | One patient was found to have no alternative pathway activity but a low normal classical pathway. | 0 |
['Surprisingly', ',', 'investigation', 'revealed', 'that', 'the', 'patients', 'complement', 'was', 'normal', 'for', 'all', 'components', 'except', 'C9', ',', 'which', 'was', 'functionally', 'absent', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-827 | Surprisingly, investigation revealed that the patients complement was normal for all components except C9, which was functionally absent. | 0 |
['The', 'patient', 'was', 'shown', 'to', 'be', 'heterozygous', 'for', 'DNA', 'markers', 'in', 'the', 'C6', ',', 'C7', 'and', 'C9', 'region', 'of', 'chromosome', '5', 'and', 'therefore', 'appears', 'to', 'be', 'a', 'compound', 'heterozygote', 'for', 'two', 'uncharacterized', 'C9', 'deficiency', 'genes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 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] | validation-828 | The patient was shown to be heterozygous for DNA markers in the C6, C7 and C9 region of chromosome 5 and therefore appears to be a compound heterozygote for two uncharacterized C9 deficiency genes. | 1 |
['Serological', 'analysis', 'by', 'ELISA', 'revealed', 'that', 'he', 'has', 'trace', 'concentrations', 'of', 'a', 'non', '-', 'functional', 'C9', 'molecule', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-829 | Serological analysis by ELISA revealed that he has trace concentrations of a non-functional C9 molecule. | 0 |
['Western', 'blot', 'analysis', 'was', 'not', 'sufficiently', 'sensitive', 'to', 'permit', 'detection', 'of', 'this', 'molecule', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-830 | Western blot analysis was not sufficiently sensitive to permit detection of this molecule. | 0 |
['We', 'hypothesize', 'that', 'the', 'patient', 'is', 'heterozygous', 'for', 'a', 'complete', 'deficiency', 'of', 'C9', 'and', 'for', 'a', 'gene', 'directing', 'hyposynthesis', 'of', 'a', 'defective', 'C9', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-831 | We hypothesize that the patient is heterozygous for a complete deficiency of C9 and for a gene directing hyposynthesis of a defective C9. | 1 |
['We', 'also', 'suggest', 'that', 'C9', 'deficiency', 'may', 'be', 'more', 'common', 'among', 'Caucasians', 'than', 'has', 'been', 'reported', '.', '.'] | [0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-832 | We also suggest that C9 deficiency may be more common among Caucasians than has been reported.. | 1 |
['Screening', 'for', 'ESR', 'mutations', 'in', 'breast', 'and', 'ovarian', 'cancer', 'patients', '.'] | [0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0] | validation-833 | Screening for ESR mutations in breast and ovarian cancer patients. | 1 |
['In', 'the', 'present', 'study', ',', 'leukocyte', 'DNA', 'from', '143', 'patients', 'with', 'familial', 'clustering', 'of', 'breast', 'and', '/', 'or', 'ovarian', 'cancer', 'and', 'tumour', 'DNA', 'from', '96', 'breast', 'carcinomas', 'were', 'screened', 'for', 'base', 'mutations', 'in', 'the', 'estrogen', 'receptor', 'gene', '(', 'ESR', ')', '.'] | [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, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-834 | In the present study, leukocyte DNA from 143 patients with familial clustering of breast and/or ovarian cancer and tumour DNA from 96 breast carcinomas were screened for base mutations in the estrogen receptor gene (ESR). | 1 |
['Three', 'patients', 'with', 'a', 'family', 'history', 'of', 'cancer', 'were', 'carrying', 'a', 'Gly160Cys', 'germline', 'substitution', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0] | validation-835 | Three patients with a family history of cancer were carrying a Gly160Cys germline substitution. | 1 |
['This', 'alteration', 'was', 'also', 'detected', 'in', 'eight', '(', 'four', 'females', 'and', 'four', 'males', ')', 'of', '729', 'controls', '(', '366', 'female', ',', '363', 'males', ')', ',', 'indicating', 'that', 'the', 'substitution', 'probably', 'represents', 'a', 'polymorphism', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-836 | This alteration was also detected in eight (four females and four males) of 729 controls (366 female, 363 males), indicating that the substitution probably represents a polymorphism. | 0 |
['However', ',', 'in', 'the', '229', 'female', 'controls', 'in', 'whom', 'family', 'history', 'of', 'cancer', 'was', 'known', ',', 'one', 'of', 'two', 'who', 'had', 'a', 'sister', 'with', 'breast', 'cancer', 'was', 'carrying', 'the', 'variant', 'allele', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0] | validation-837 | However, in the 229 female controls in whom family history of cancer was known, one of two who had a sister with breast cancer was carrying the variant allele. | 1 |
['Hence', ',', 'a', 'possible', 'clinical', 'significance', 'of', 'the', 'glycine', 'into', 'cysteine', 'cannot', 'be', 'completely', 'ruled', 'out', 'and', 'should', 'be', 'further', 'investigated', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-838 | Hence, a possible clinical significance of the glycine into cysteine cannot be completely ruled out and should be further investigated. | 0 |
['Somatic', 'mutations', 'were', 'not', 'detected', 'in', 'any', 'of', 'the', 'tumours', 'studied', ',', 'and', 'the', 'present', 'data', 'do', 'not', 'provide', 'support', 'for', 'somatic', 'ESR', 'base', 'mutations', 'as', 'an', 'important', 'mechanism', 'for', 'hormonal', 'therapy', 'resistance', 'in', 'estrogen', 'receptor', '-', 'positive', 'breast', 'carcinomas', '.', '.'] | [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, 1, 2, 2, 2, 2, 2, 0, 0] | validation-839 | Somatic mutations were not detected in any of the tumours studied, and the present data do not provide support for somatic ESR base mutations as an important mechanism for hormonal therapy resistance in estrogen receptor-positive breast carcinomas.. | 1 |
['Molecular', 'bases', 'of', 'C7', 'deficiency', ':', 'three', 'different', 'defects', '.'] | [0, 0, 0, 1, 2, 0, 0, 0, 0, 0] | validation-840 | Molecular bases of C7 deficiency:three different defects. | 1 |
['The', 'molecular', 'basis', 'of', 'C7', 'deficiency', 'has', 'been', 'investigated', 'in', 'two', 'Irish', 'families', 'and', 'a', 'number', 'of', 'Israeli', 'families', 'of', 'Moroccan', 'Sephardic', 'Jewish', 'origin', '.'] | [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] | validation-841 | The molecular basis of C7 deficiency has been investigated in two Irish families and a number of Israeli families of Moroccan Sephardic Jewish origin. | 1 |
['Exon', 'PCR', 'and', 'sequencing', 'revealed', 'a', 'heterozygous', 'point', 'mutation', 'at', 'the', '3', 'splice', 'acceptor', 'site', 'of', 'intron', '1', 'in', 'one', 'Irish', 'family', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-842 | Exon PCR and sequencing revealed a heterozygous point mutation at the 3 splice acceptor site of intron 1 in one Irish family. | 0 |
['In', 'the', 'other', 'Irish', 'family', ',', 'exons', '7', 'and', '8', 'failed', 'to', 'amplify', 'and', 'they', 'were', 'shown', 'to', 'be', 'deleted', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-843 | In the other Irish family, exons 7 and 8 failed to amplify and they were shown to be deleted. | 0 |
['Marker', 'haplotype', 'studies', 'of', 'the', 'C6', 'and', 'C7', 'gene', 'region', 'and', 'Southern', 'blots', 'show', 'that', 'the', 'Irish', 'family', 'with', 'the', 'splice', 'defect', 'also', 'segregate', 'for', 'the', 'deletion', ',', 'which', 'is', 'not', 'easily', 'detected', 'in', 'heterozygotes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-844 | Marker haplotype studies of the C6 and C7 gene region and Southern blots show that the Irish family with the splice defect also segregate for the deletion, which is not easily detected in heterozygotes. | 0 |
['The', 'Israeli', 'C7', '-', 'deficient', 'cases', 'all', 'share', 'a', 'C7', 'haplotype', 'and', 'are', 'homozygous', 'for', 'a', 'mis', '-', 'sense', 'mutation', 'in', 'exon', '9', '.'] | [0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-845 | The Israeli C7-deficient cases all share a C7 haplotype and are homozygous for a mis-sense mutation in exon 9. | 1 |
['However', ',', 'one', 'individual', 'is', 'heterozygous', 'for', 'markers', 'at', 'adjacent', 'C6', 'loci', ',', 'showing', 'that', 'there', 'has', 'been', 'an', 'intergenic', 'recombination', 'and', 'suggesting', 'that', 'the', 'deficiency', 'mutation', 'is', 'of', 'appreciable', 'antiquity', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-846 | However, one individual is heterozygous for markers at adjacent C6 loci, showing that there has been an intergenic recombination and suggesting that the deficiency mutation is of appreciable antiquity.. | 0 |
['Molecular', 'heterogeneity', 'of', 'classical', 'and', 'Duarte', 'galactosemia', ':', 'mutation', 'analysis', 'by', 'denaturing', 'gradient', 'gel', 'electrophoresis', '.'] | [0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-847 | Molecular heterogeneity of classical and Duarte galactosemia:mutation analysis by denaturing gradient gel electrophoresis. | 1 |
['Classical', 'galactosemia', 'is', 'caused', 'by', 'one', 'common', 'missense', 'mutation', '(', 'Q188R', ')', 'and', 'by', 'several', 'rare', 'mutations', 'in', 'the', 'galactose', '-', '1', '-', 'phosphate', 'uridyltransferase', '(', 'GALT', ')', 'gene', '.'] | [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] | validation-848 | Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 1 |
['The', 'most', 'common', 'variant', 'of', 'GALT', ',', 'the', 'Duarte', 'variant', ',', 'occurs', 'as', 'two', 'types', ',', 'Duarte', '-', '1', '(', 'D', '-', '1', ')', 'and', 'Duarte', '-', '2', '(', 'D', '-', '2', ')', ',', 'both', 'of', 'which', 'carry', 'the', 'sequence', 'change', 'N314D', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-849 | The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. | 0 |
['D', '-', '1', 'increases', ',', 'whereas', 'D', '-', '2', 'decreases', 'GALT', 'activity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-850 | D-1 increases, whereas D-2 decreases GALT activity. | 0 |
['To', 'study', 'the', 'molecular', 'genetics', 'of', 'classical', 'and', 'Duarte', 'galactosemia', ',', 'we', 'analyzed', 'the', 'GALT', 'mutations', 'in', '30', 'families', 'with', 'classical', 'galactosemia', ',', 'in', '10', 'families', 'with', 'the', 'D', '-', '2', 'variant', 'and', 'in', '3', 'individuals', 'carrying', 'the', 'D', '-', '1', 'allele', 'by', 'denaturing', 'gradient', 'gel', 'electrophoresis', '(', 'DGGE', ')', '.'] | [0, 0, 0, 0, 0, 0, 1, 2, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-851 | To study the molecular genetics of classical and Duarte galactosemia, we analyzed the GALT mutations in 30 families with classical galactosemia, in 10 families with the D-2 variant and in 3 individuals carrying the D-1 allele by denaturing gradient gel electrophoresis (DGGE). | 1 |
['DGGE', 'detected', '59', 'of', 'the', '60', 'classical', 'galactosemia', 'alleles', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | validation-852 | DGGE detected 59 of the 60 classical galactosemia alleles. | 1 |
['Q188R', 'accounted', 'for', '60', '%', ',', 'K285N', 'accounted', 'for', '28', '%', 'of', 'these', 'alleles', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-853 | Q188R accounted for 60%, K285N accounted for 28% of these alleles. | 0 |
['Eight', 'novel', 'candidate', 'galactosemia', 'mutations', 'were', 'found', '.'] | [0, 0, 0, 1, 0, 0, 0, 0] | validation-854 | Eight novel candidate galactosemia mutations were found. | 1 |
['On', 'all', 'D', '-', '2', 'alleles', 'N314D', 'occurred', 'in', 'cis', 'with', 'two', 'intronic', 'sequence', 'changes', ',', 'on', 'the', 'D', '-', '1', 'alleles', 'in', 'cis', 'with', 'a', 'neutral', 'mutation', 'in', 'exon', '7', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-855 | On all D-2 alleles N314D occurred in cis with two intronic sequence changes, on the D-1 alleles in cis with a neutral mutation in exon 7. | 0 |
['We', 'conclude', 'that', 'the', 'mutations', 'causing', 'galactosemia', 'are', 'highly', 'heterogeneous', 'and', 'that', 'K285N', 'is', 'a', 'second', 'common', 'galactosemia', 'mutation', 'in', 'our', 'population', '.', '.'] | [0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0] | validation-856 | We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population.. | 1 |
['Isolation', 'of', 'full', '-', 'length', 'ATM', 'cDNA', 'and', 'correction', 'of', 'the', 'ataxia', '-', 'telangiectasia', 'cellular', 'phenotype', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0] | validation-857 | Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype. | 1 |
['A', 'gene', 'mutated', 'in', 'the', 'human', 'genetic', 'disorder', 'ataxia', '-', 'telangiectasia', '(', 'A', '-', 'T', ')', ',', 'ATM', ',', 'was', 'recently', 'identified', 'by', 'positional', 'cloning', '.'] | [0, 0, 0, 0, 0, 0, 1, 2, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-858 | A gene mutated in the human genetic disorder ataxia-telangiectasia (A-T), ATM, was recently identified by positional cloning. | 1 |
['ATM', 'is', 'a', 'member', 'of', 'the', 'phosphatidylinositol', '-', '3', '-', 'kinase', 'superfamily', ',', 'some', 'of', 'which', 'are', 'protein', 'kinases', 'and', 'appear', 'to', 'have', 'important', 'roles', 'in', 'cell', 'cycle', 'control', 'and', 'radiation', 'signal', 'transduction', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-859 | ATM is a member of the phosphatidylinositol-3-kinase superfamily, some of which are protein kinases and appear to have important roles in cell cycle control and radiation signal transduction. | 0 |
['We', 'describe', 'herein', ',', 'to', 'our', 'knowledge', ',', 'for', 'the', 'first', 'time', ',', 'the', 'cloning', 'of', 'a', 'full', '-', 'length', 'cDNA', 'for', 'ATM', 'and', 'correction', 'of', 'multiple', 'aspects', 'of', 'the', 'radio', '-', 'sensitive', 'phenotype', 'of', 'A', '-', 'T', 'cells', 'by', 'transfection', 'with', 'this', 'cDNA', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0] | validation-860 | We describe herein, to our knowledge, for the first time, the cloning of a full-length cDNA for ATM and correction of multiple aspects of the radio-sensitive phenotype of A-T cells by transfection with this cDNA. | 1 |
['Overexpression', 'of', 'ATM', 'cDNA', 'in', 'A', '-', 'T', 'cells', 'enhanced', 'the', 'survival', 'of', 'these', 'cells', 'in', 'response', 'to', 'radiation', 'exposure', ',', 'decreased', 'radiation', '-', 'induced', 'chromosome', 'aberrations', ',', 'reduced', 'radio', '-', 'resistant', 'DNA', 'synthesis', ',', 'and', 'partially', 'corrected', 'defective', 'cell', 'cycle', 'checkpoints', 'and', 'induction', 'of', 'stress', '-', 'activated', 'protein', 'kinase', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-861 | Overexpression of ATM cDNA in A-T cells enhanced the survival of these cells in response to radiation exposure, decreased radiation-induced chromosome aberrations, reduced radio-resistant DNA synthesis, and partially corrected defective cell cycle checkpoints and induction of stress-activated protein kinase. | 1 |
['This', 'correction', 'of', 'the', 'defects', 'in', 'A', '-', 'T', 'cells', 'provides', 'further', 'evidence', 'of', 'the', 'multiplicity', 'of', 'effector', 'functions', 'of', 'the', 'ATM', 'protein', 'and', 'suggests', 'possible', 'approaches', 'to', 'gene', 'therapy', '.', '.'] | [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, 0, 0, 0, 0] | validation-862 | This correction of the defects in A-T cells provides further evidence of the multiplicity of effector functions of the ATM protein and suggests possible approaches to gene therapy.. | 1 |
['Fusion', 'genes', 'resulting', 'from', 'alternative', 'chromosomal', 'translocations', 'are', 'overexpressed', 'by', 'gene', '-', 'specific', 'mechanisms', 'in', 'alveolar', 'rhabdomyosarcoma', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-863 | Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. | 1 |
['Chromosomal', 'translocations', 'identified', 'in', 'hematopoietic', 'and', 'solid', 'tumors', 'result', 'in', 'deregulated', 'expression', 'of', 'protooncogenes', 'or', 'creation', 'of', 'chimeric', 'proteins', 'with', 'tumorigenic', 'potential', '.'] | [0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-864 | Chromosomal translocations identified in hematopoietic and solid tumors result in deregulated expression of protooncogenes or creation of chimeric proteins with tumorigenic potential. | 1 |
['In', 'the', 'pediatric', 'solid', 'tumor', 'alveolar', 'rhabdomyosarcoma', ',', 'a', 'consistent', 't', '(', '2', ';', '13', ')', '(', 'q35', ';', 'q14', ')', 'or', 'variant', 't', '(', '1', ';', '13', ')', '(', 'p36', ';', 'q14', ')', 'translocation', 'generates', 'PAX3', '-', 'FKHR', 'or', 'PAX7', '-', 'FKHR', 'fusion', 'proteins', ',', 'respectively', '.'] | [0, 0, 0, 1, 2, 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, 0] | validation-865 | In the pediatric solid tumor alveolar rhabdomyosarcoma, a consistent t (2;13) (q35;q14) or variant t (1;13) (p36;q14) translocation generates PAX3-FKHR or PAX7-FKHR fusion proteins, respectively. | 1 |
['In', 'this', 'report', ',', 'we', 'demonstrate', 'that', 'in', 'addition', 'to', 'functional', 'alterations', 'these', 'translocations', 'are', 'associated', 'with', 'fusion', 'product', 'overexpression', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-866 | In this report, we demonstrate that in addition to functional alterations these translocations are associated with fusion product overexpression. | 0 |
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