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['A', 'spectrum', 'of', 'different', 'mutations', 'has', 'been', 'reported', 'in', 'this', 'disease', ',', 'one', 'missense', 'mutation', '(', 'Cys163Ser', ')', 'being', 'responsible', 'for', 'the', 'majority', 'of', 'Finnish', 'cases', '.'] | [0, 0, 0, 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-400 | A spectrum of different mutations has been reported in this disease, one missense mutation (Cys163Ser) being responsible for the majority of Finnish cases. | 0 |
['We', 'were', 'able', 'to', 'examine', '66', 'Finnish', 'AGU', 'patients', 'for', 'changes', 'in', 'the', 'oral', 'mucosa', 'and', '44', 'of', 'these', 'for', 'changes', 'in', 'facial', 'skin', '.'] | [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] | train-401 | We were able to examine 66 Finnish AGU patients for changes in the oral mucosa and 44 of these for changes in facial skin. | 1 |
['Biopsy', 'specimens', 'of', '16', 'oral', 'lesions', ',', '12', 'of', 'them', 'associated', 'with', 'the', 'teeth', ',', 'plus', 'two', 'facial', 'lesions', 'were', 'studied', 'histologically', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0] | train-402 | Biopsy specimens of 16 oral lesions, 12 of them associated with the teeth, plus two facial lesions were studied histologically. | 1 |
['Immunohistochemical', 'staining', 'for', 'AGA', 'was', 'performed', 'on', '15', 'oral', 'specimens', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-403 | Immunohistochemical staining for AGA was performed on 15 oral specimens. | 0 |
['Skin', 'was', 'seborrhoeic', 'in', 'adolescent', 'and', 'adult', 'patients', ',', 'with', 'erythema', 'of', 'the', 'facial', 'skin', 'already', 'common', 'in', 'childhood', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0] | train-404 | Skin was seborrhoeic in adolescent and adult patients, with erythema of the facial skin already common in childhood. | 1 |
['Of', '44', 'patients', ',', 'nine', '(', '20', '%', ')', 'had', 'facial', 'angiofibromas', ',', 'tumours', 'primarily', 'occurring', 'in', 'association', 'with', 'tuberous', 'sclerosis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 1, 2, 0] | train-405 | Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis. | 1 |
['Oedemic', 'buccal', 'mucosa', '(', 'leucoedema', ')', 'and', 'gingival', 'overgrowths', 'were', 'more', 'frequent', 'in', 'AGU', 'patients', 'than', 'in', 'controls', '(', 'p', '<', '0', '.', '001', ')', '.'] | [1, 2, 2, 0, 1, 0, 0, 1, 2, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-406 | Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls (p<0. 001). | 1 |
['Of', '16', 'oral', 'mucosal', 'lesions', 'studied', 'histologically', ',', '15', 'represented', 'fibroepithelial', 'or', 'epithelial', 'hyperplasias', 'and', 'were', 'reactive', 'in', 'nature', '.'] | [0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0] | train-407 | Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature. | 1 |
['Cytoplasmic', 'vacuolisation', 'was', 'evident', 'in', 'four', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-408 | Cytoplasmic vacuolisation was evident in four. | 0 |
['Immunohistochemically', ',', 'expression', 'of', 'AGA', 'in', 'AGU', 'patients', 'mucosal', 'lesions', 'did', 'not', 'differ', 'from', 'that', 'seen', 'in', 'corresponding', 'lesions', 'of', 'normal', 'subjects', '.'] | [0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-409 | Immunohistochemically, expression of AGA in AGU patients mucosal lesions did not differ from that seen in corresponding lesions of normal subjects. | 1 |
['Thus', ',', 'the', 'high', 'frequency', 'of', 'mucosal', 'overgrowth', 'in', 'AGU', 'patients', 'does', 'not', 'appear', 'to', 'be', 'directly', 'associated', 'with', 'lysosomal', 'storage', 'or', 'with', 'alterations', 'in', 'the', 'level', 'of', 'AGA', 'expression', '.'] | [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, 0, 0, 0, 0, 0] | train-410 | Thus, the high frequency of mucosal overgrowth in AGU patients does not appear to be directly associated with lysosomal storage or with alterations in the level of AGA expression. | 1 |
['Characterization', 'of', 'a', 'germline', 'mosaicism', 'in', 'families', 'with', 'Lowe', 'syndrome', ',', 'and', 'identification', 'of', 'seven', 'novel', 'mutations', 'in', 'the', 'OCRL1', 'gene', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-411 | Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. | 1 |
['The', 'oculocerebrorenal', 'syndrome', 'of', 'Lowe', '(', 'OCRL', ')', 'is', 'an', 'X', '-', 'linked', 'disorder', 'characterized', 'by', 'major', 'abnormalities', 'of', 'eyes', ',', 'nervous', 'system', ',', 'and', 'kidneys', '.'] | [0, 1, 2, 2, 2, 0, 1, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 2, 0] | train-412 | The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. | 1 |
['Mutations', 'in', 'the', 'OCRL1', 'gene', 'have', 'been', 'associated', 'with', 'the', 'disease', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-413 | Mutations in the OCRL1 gene have been associated with the disease. | 0 |
['OCRL1', 'encodes', 'a', 'phosphatidylinositol', '4', ',', '5', '-', 'biphosphate', '(', 'PtdIns', '[', '4', ',', '5', ']', 'P2', ')', '5', '-', 'phosphatase', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-414 | OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase. | 0 |
['We', 'have', 'examined', 'the', 'OCRL1', 'gene', 'in', 'eight', 'unrelated', 'patients', 'with', 'OCRL', 'and', 'have', 'found', 'seven', 'new', 'mutations', 'and', 'one', 'recurrent', 'in', '-', 'frame', 'deletion', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-415 | We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion. | 1 |
['Among', 'the', 'new', 'mutations', ',', 'two', 'nonsense', 'mutations', '(', 'R317X', 'and', 'E558X', ')', 'and', 'three', 'other', 'frameshift', 'mutations', 'caused', 'premature', 'termination', 'of', 'the', 'protein', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-416 | Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein. | 0 |
['A', 'missense', 'mutation', ',', 'R483G', ',', 'was', 'located', 'in', 'the', 'highly', 'conserved', 'PtdIns', '(', '4', ',', '5', ')', 'P2', '5', '-', 'phosphatase', 'domain', '.'] | [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-417 | A missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain. | 0 |
['Finally', ',', 'one', 'frameshift', 'mutation', ',', '2799delC', ',', 'modifies', 'the', 'C', '-', 'terminal', 'part', 'of', 'OCRL1', ',', 'with', 'an', 'extension', 'of', 'six', 'amino', 'acids', '.'] | [0, 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-418 | Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids. | 0 |
['Altogether', ',', '70', '%', 'of', 'missense', 'mutations', 'are', 'located', 'in', 'exon', '15', ',', 'and', '52', '%', 'of', 'all', 'mutations', 'cluster', 'in', 'exons', '11', '-', '15', '.'] | [0, 0, 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-419 | Altogether, 70% of missense mutations are located in exon 15, and 52% of all mutations cluster in exons 11-15. | 0 |
['We', 'also', 'identified', 'two', 'new', 'microsatellite', 'markers', 'for', 'the', 'OCRL1', 'locus', ',', 'and', 'we', 'detected', 'a', 'germline', 'mosaicism', 'in', 'one', 'family', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-420 | We also identified two new microsatellite markers for the OCRL1 locus, and we detected a germline mosaicism in one family. | 0 |
['This', 'observation', 'has', 'direct', 'implications', 'for', 'genetic', 'counseling', 'of', 'Lowe', 'syndrome', 'families', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0] | train-421 | This observation has direct implications for genetic counseling of Lowe syndrome families.. | 1 |
['MEFV', '-', 'Gene', 'analysis', 'in', 'armenian', 'patients', 'with', 'Familial', 'Mediterranean', 'fever', ':', 'diagnostic', 'value', 'and', 'unfavorable', 'renal', 'prognosis', 'of', 'the', 'M694V', 'homozygous', 'genotype', '-', 'genetic', 'and', 'therapeutic', 'implications', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-422 | MEFV-Gene analysis in armenian patients with Familial Mediterranean fever:diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. | 1 |
['Familial', 'Mediterranean', 'fever', '(', 'FMF', ')', 'is', 'a', 'recessively', 'inherited', 'disorder', 'that', 'is', 'common', 'in', 'patients', 'of', 'Armenian', 'ancestry', '.'] | [1, 2, 2, 0, 1, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-423 | Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. | 1 |
['To', 'date', ',', 'its', 'diagnosis', ',', 'which', 'can', 'be', 'made', 'only', 'retrospectively', ',', 'is', 'one', 'of', 'exclusion', ',', 'based', 'entirely', 'on', 'nonspecific', 'clinical', 'signs', 'that', 'result', 'from', 'serosal', 'inflammation', 'and', 'that', 'may', 'lead', 'to', 'unnecessary', 'surgery', '.'] | [0, 0, 0, 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] | train-424 | To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessary surgery. | 1 |
['Renal', 'amyloidosis', ',', 'prevented', 'by', 'colchicine', ',', 'is', 'the', 'most', 'severe', 'complication', 'of', 'FMF', ',', 'a', 'disorder', 'associated', 'with', 'mutations', 'in', 'the', 'MEFV', 'gene', '.'] | [1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-425 | Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene. | 1 |
['To', 'evaluate', 'the', 'diagnostic', 'and', 'prognostic', 'value', 'of', 'MEFV', '-', 'gene', 'analysis', ',', 'we', 'investigated', '90', 'Armenian', 'FMF', 'patients', 'from', '77', 'unrelated', 'families', 'that', 'were', 'not', 'selected', 'through', 'genetic', '-', 'linkage', 'analysis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-426 | To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis. | 1 |
['Eight', 'mutations', ',', 'one', 'of', 'which', '(', 'R408Q', ')', 'is', 'new', ',', 'were', 'found', 'to', 'account', 'for', '93', '%', 'of', 'the', '163', 'independent', 'FMF', 'alleles', ',', 'with', 'both', 'FMF', 'alleles', 'identified', 'in', '89', '%', 'of', 'the', 'patients', '.'] | [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, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-427 | Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients. | 1 |
['In', 'several', 'instances', ',', 'family', 'studies', 'provided', 'molecular', 'evidence', 'for', 'pseudodominant', 'transmission', 'and', 'incomplete', 'penetrance', 'of', 'the', 'disease', 'phenotype', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-428 | In several instances, family studies provided molecular evidence for pseudodominant transmission and incomplete penetrance of the disease phenotype. | 0 |
['The', 'M694V', 'homozygous', 'genotype', 'was', 'found', 'to', 'be', 'associated', 'with', 'a', 'higher', 'prevalence', 'of', 'renal', 'amyloidosis', 'and', 'arthritis', ',', 'compared', 'with', 'other', 'genotypes', '(', 'P', '=', '.', '0002', 'and', 'P', '=', '.', '006', ',', 'respectively', ')', '.'] | [0, 0, 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, 0, 0, 0] | train-429 | The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P =. 0002 and P =. 006, respectively). | 1 |
['The', 'demonstration', 'of', 'both', 'the', 'diagnostic', 'and', 'prognostic', 'value', 'of', 'MEFV', 'analysis', 'and', 'particular', 'modes', 'of', 'inheritance', 'should', 'lead', 'to', 'new', 'ways', 'for', 'management', 'of', 'FMF', '-', 'including', 'genetic', 'counseling', 'and', 'therapeutic', 'decisions', 'in', 'affected', '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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-430 | The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families. | 0 |
['Noninvasive', 'test', 'for', 'fragile', 'X', 'syndrome', ',', 'using', 'hair', 'root', 'analysis', '.'] | [0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0] | train-431 | Noninvasive test for fragile X syndrome, using hair root analysis. | 1 |
['Identification', 'of', 'the', 'FMR1', 'gene', 'and', 'the', 'repeat', '-', 'amplification', 'mechanism', 'causing', 'fragile', 'X', 'syndrome', 'led', 'to', 'development', 'of', 'reliable', 'DNA', '-', 'based', 'diagnostic', 'methods', ',', 'including', 'Southern', 'blot', 'hybridization', 'and', 'PCR', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-432 | Identification of the FMR1 gene and the repeat-amplification mechanism causing fragile X syndrome led to development of reliable DNA-based diagnostic methods, including Southern blot hybridization and PCR. | 1 |
['Both', 'methods', 'are', 'performed', 'on', 'DNA', 'isolated', 'from', 'peripheral', 'blood', 'cells', 'and', 'measure', 'the', 'repeat', 'size', 'in', 'FMR1', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-433 | Both methods are performed on DNA isolated from peripheral blood cells and measure the repeat size in FMR1. | 0 |
['Using', 'an', 'immunocytochemical', 'technique', 'on', 'blood', 'smears', ',', 'we', 'recently', 'developed', 'a', 'novel', 'test', 'for', 'identification', 'of', 'patients', 'with', 'fragile', 'X', 'syndrome', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-434 | Using an immunocytochemical technique on blood smears, we recently developed a novel test for identification of patients with fragile X syndrome. | 1 |
['This', 'method', ',', 'also', 'called', '"', 'antibody', 'test', ',', '"', 'uses', 'monoclonal', 'antibodies', 'against', 'the', 'FMR1', 'gene', 'product', '(', 'FMRP', ')', 'and', 'is', 'based', 'on', 'absence', 'of', 'FMRP', 'in', 'patients', '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, 0, 0, 0, 0, 0, 0] | train-435 | This method, also called " antibody test, " uses monoclonal antibodies against the FMR1 gene product (FMRP) and is based on absence of FMRP in patients cells. | 0 |
['Here', 'we', 'describe', 'a', 'new', 'diagnostic', 'test', 'to', 'identify', 'male', 'patients', 'with', 'fragile', 'X', 'syndrome', ',', 'on', 'the', 'basis', 'of', 'lack', 'of', 'FMRP', 'in', 'their', 'hair', 'roots', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-436 | Here we describe a new diagnostic test to identify male patients with fragile X syndrome, on the basis of lack of FMRP in their hair roots. | 1 |
['Expression', 'of', 'FMRP', 'in', 'hair', 'roots', 'was', 'studied', 'by', 'use', 'of', 'an', 'FMRP', '-', 'specific', 'antibody', 'test', ',', 'and', 'the', 'percentage', 'of', 'FMRP', '-', 'expressing', 'hair', 'roots', 'in', 'controls', 'and', 'in', 'male', 'fragile', 'X', 'patients', 'was', 'determined', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 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] | train-437 | Expression of FMRP in hair roots was studied by use of an FMRP-specific antibody test, and the percentage of FMRP-expressing hair roots in controls and in male fragile X patients was determined. | 1 |
['Control', 'individuals', 'showed', 'clear', 'expression', 'of', 'FMRP', 'in', 'nearly', 'every', 'hair', 'root', ',', 'whereas', 'male', 'fragile', 'X', 'patients', 'lacked', 'expression', 'of', 'FMRP', 'in', 'almost', 'all', 'their', 'hair', 'roots', '.'] | [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] | train-438 | Control individuals showed clear expression of FMRP in nearly every hair root, whereas male fragile X patients lacked expression of FMRP in almost all their hair roots. | 1 |
['Mentally', 'retarded', 'female', 'patients', 'with', 'a', 'full', 'mutation', 'showed', 'FMRP', 'expression', 'in', 'only', 'some', 'of', 'their', 'hair', 'roots', '(', '<', '55', '%', ')', ',', 'and', 'no', 'overlap', 'with', 'normal', 'female', 'controls', 'was', 'observed', '.'] | [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] | train-439 | Mentally retarded female patients with a full mutation showed FMRP expression in only some of their hair roots (< 55%), and no overlap with normal female controls was observed. | 1 |
['The', 'advantages', 'of', 'this', 'test', 'are', '(', '1', ')', 'plucking', 'of', 'hair', 'follicles', 'does', 'no', 'appreciable', 'harm', 'to', 'the', 'mentally', 'retarded', 'patient', ',', '(', '2', ')', 'hairs', 'can', 'be', 'sent', 'in', 'a', 'simple', 'envelope', 'to', 'a', 'diagnostic', 'center', ',', 'and', '(', '3', ')', 'the', 'result', 'of', 'the', 'test', 'is', 'available', 'within', '5', 'h', 'of', 'plucking', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-440 | The advantages of this test are (1) plucking of hair follicles does no appreciable harm to the mentally retarded patient, (2) hairs can be sent in a simple envelope to a diagnostic center, and (3) the result of the test is available within 5 h of plucking. | 1 |
['In', 'addition', ',', 'this', 'test', 'enabled', 'us', 'to', 'identify', 'two', 'fragile', 'X', 'patients', 'who', 'did', 'not', 'show', 'the', 'full', 'mutation', 'by', 'analysis', 'of', 'DNA', 'isolated', 'from', 'blood', 'cells', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-441 | In addition, this test enabled us to identify two fragile X patients who did not show the full mutation by analysis of DNA isolated from blood cells.. | 1 |
['In', 'Swedish', 'families', 'with', 'hereditary', 'prostate', 'cancer', ',', 'linkage', 'to', 'the', 'HPC1', 'locus', 'on', 'chromosome', '1q24', '-', '25', 'is', 'restricted', 'to', 'families', 'with', 'early', '-', 'onset', 'prostate', 'cancer', '.'] | [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, 1, 2, 0] | train-442 | In Swedish families with hereditary prostate cancer, linkage to the HPC1 locus on chromosome 1q24-25 is restricted to families with early-onset prostate cancer. | 1 |
['Prostate', 'cancer', 'clusters', 'in', 'some', 'families', ',', 'and', 'an', 'estimated', '5', '%', '-', '10', '%', 'of', 'all', 'cases', 'are', 'estimated', 'to', 'result', 'from', 'inheritance', 'of', 'prostate', 'cancer', '-', 'susceptibility', 'genes', '.'] | [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] | train-443 | Prostate cancer clusters in some families, and an estimated 5%-10% of all cases are estimated to result from inheritance of prostate cancer-susceptibility genes. | 1 |
['We', 'previously', 'reported', 'evidence', 'of', 'linkage', 'to', 'the', '1q24', '-', '25', 'region', '(', 'HPC1', ')', 'in', '91', 'North', 'American', 'and', 'Swedish', 'families', 'each', 'with', 'multiple', 'cases', 'of', 'prostate', 'cancer', '(', 'Smith', 'et', 'al', '.', '1996', ')', '.'] | [0, 0, 0, 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] | train-444 | We previously reported evidence of linkage to the 1q24-25 region (HPC1) in 91 North American and Swedish families each with multiple cases of prostate cancer (Smith et al. 1996). | 1 |
['In', 'the', 'present', 'report', 'we', 'analyze', '40', '(', '12', 'original', 'and', '28', 'newly', 'identified', ')', 'Swedish', 'families', 'with', 'hereditary', 'prostate', 'cancer', '(', 'HPC', ')', 'that', ',', 'on', 'the', 'basis', 'of', '40', 'markers', 'spanning', 'a', '25', '-', 'cM', 'interval', 'within', '1q24', '-', '25', ',', 'have', 'evidence', 'of', 'linkage', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-445 | In the present report we analyze 40 (12 original and 28 newly identified) Swedish families with hereditary prostate cancer (HPC) that, on the basis of 40 markers spanning a 25-cM interval within 1q24-25, have evidence of linkage. | 1 |
['In', 'the', 'complete', 'set', 'of', 'families', ',', 'a', 'maximum', 'two', '-', 'point', 'LOD', 'score', 'of', '1', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-446 | In the complete set of families, a maximum two-point LOD score of 1. | 0 |
['10', 'was', 'observed', 'at', 'D1S413', '(', 'at', 'a', 'recombination', 'fraction', '[', 'theta', ']', 'of', '.', '1', ')', ',', 'with', 'a', 'maximum', 'NPL', '(', 'nonparametric', 'linkage', ')', 'Z', 'score', 'of', '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-447 | 10 was observed at D1S413 (at a recombination fraction [theta] of. 1), with a maximum NPL (nonparametric linkage) Z score of 1. | 0 |
['64', 'at', 'D1S202', '(', 'P', '=', '.', '05', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-448 | 64 at D1S202 (P =. 05). | 0 |
['The', 'evidence', 'of', 'linkage', 'to', 'this', 'region', 'originated', 'almost', 'exclusively', 'from', 'the', 'subset', 'of', '12', 'early', '-', 'onset', '(', 'age', '<', '65', 'years', ')', 'families', ',', 'which', 'yielded', 'a', 'maximum', 'LOD', 'score', 'of', '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] | train-449 | The evidence of linkage to this region originated almost exclusively from the subset of 12 early-onset (age<65 years) families, which yielded a maximum LOD score of 2. | 0 |
['38', 'at', 'D1S413', '(', 'straight', 'theta', '=', '0', ')', 'and', 'an', 'NPL', 'Z', 'score', 'of', '1', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-450 | 38 at D1S413 (straight theta=0) and an NPL Z score of 1. | 0 |
['95', 'at', 'D1S422', '(', 'P', '=', '.', '03', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-451 | 95 at D1S422 (P =. 03). | 0 |
['Estimates', 'from', 'heterogeneity', 'tests', 'suggest', 'that', ',', 'within', 'Sweden', ',', 'as', 'many', 'as', '50', '%', 'of', 'early', '-', 'onset', 'families', 'had', 'evidence', 'of', 'linkage', 'to', 'the', 'HPC1', 'region', '.'] | [0, 0, 0, 0, 0, 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-452 | Estimates from heterogeneity tests suggest that, within Sweden, as many as 50% of early-onset families had evidence of linkage to the HPC1 region. | 0 |
['These', 'results', 'are', 'consistent', 'with', 'the', 'hypothesis', 'of', 'linkage', 'to', 'HPC1', 'in', 'a', 'subset', 'of', 'families', 'with', 'prostate', 'cancer', ',', 'particularly', 'those', 'with', 'an', 'early', 'age', 'at', 'diagnosis', '.'] | [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] | train-453 | These results are consistent with the hypothesis of linkage to HPC1 in a subset of families with prostate cancer, particularly those with an early age at diagnosis. | 1 |
['Molecular', 'basis', 'of', 'feline', 'beta', '-', 'glucuronidase', 'deficiency', ':', 'an', 'animal', 'model', 'of', 'mucopolysaccharidosis', 'VII', '.'] | [0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 1, 2, 0] | train-454 | Molecular basis of feline beta-glucuronidase deficiency:an animal model of mucopolysaccharidosis VII. | 1 |
['A', 'family', 'of', 'domestic', 'cats', 'was', 'found', 'that', 'exhibited', 'clinical', 'and', 'biochemical', 'abnormalities', 'consistent', 'with', 'mucopolysaccharidosis', 'VII', ',', 'an', 'autosomal', 'recessive', 'lysosomal', 'storage', 'disorder', 'caused', 'by', 'beta', '-', 'glucuronidase', 'deficiency', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 1, 2, 2, 2, 2, 0, 0, 1, 2, 2, 2, 0] | train-455 | A family of domestic cats was found that exhibited clinical and biochemical abnormalities consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder caused by beta-glucuronidase deficiency. | 1 |
['beta', '-', 'Glucuronidase', 'activity', 'was', 'undetectable', 'in', 'affected', 'cat', 'fibroblasts', 'and', 'restored', 'by', 'retroviral', 'gene', 'transfer', 'of', 'rat', 'beta', '-', 'glucuronidase', 'cDNA', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-456 | beta-Glucuronidase activity was undetectable in affected cat fibroblasts and restored by retroviral gene transfer of rat beta-glucuronidase cDNA. | 0 |
['beta', '-', 'Glucuronidase', 'mRNA', 'was', 'normal', 'in', 'affected', 'cat', 'testis', 'by', 'Northern', 'blot', 'analysis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-457 | beta-Glucuronidase mRNA was normal in affected cat testis by Northern blot analysis. | 0 |
['Normal', 'feline', 'beta', '-', 'glucuronidase', 'cDNA', 'was', 'cloned', 'and', 'characterized', ',', 'and', 'amplified', 'from', 'affected', 'cat', 'fibroblasts', 'by', 'reverse', 'transcription', 'coupled', 'polymerase', 'chain', 'reaction', '.'] | [0, 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-458 | Normal feline beta-glucuronidase cDNA was cloned and characterized, and amplified from affected cat fibroblasts by reverse transcription coupled polymerase chain reaction. | 0 |
['There', 'was', 'a', 'G', '-', 'to', '-', 'A', 'transition', 'in', 'the', 'affected', 'cat', 'cDNA', 'that', 'predicted', 'an', 'E351K', 'substitution', ',', 'destroyed', 'a', 'BssSI', 'site', ',', 'and', 'eliminated', 'GUSB', 'enzymatic', 'activity', 'in', 'expression', 'studies', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-459 | There was a G-to-A transition in the affected cat cDNA that predicted an E351K substitution, destroyed a BssSI site, and eliminated GUSB enzymatic activity in expression studies. | 0 |
['Multiple', 'species', 'comparison', 'and', 'the', 'crystal', 'structure', 'of', 'human', 'beta', '-', 'glucuronidase', 'indicated', 'that', 'E351', 'is', 'a', 'highly', 'conserved', 'residue', 'most', 'likely', 'essential', 'in', 'maintenance', 'of', 'the', 'enzymes', 'conformation', '.'] | [0, 0, 0, 0, 0, 0, 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-460 | Multiple species comparison and the crystal structure of human beta-glucuronidase indicated that E351 is a highly conserved residue most likely essential in maintenance of the enzymes conformation. | 0 |
['BssSI', 'digestion', 'of', 'polymerase', 'chain', 'reaction', 'products', 'amplified', 'from', 'genomic', 'DNA', 'indicated', 'that', 'affected', 'cats', 'were', 'homozygous', 'and', 'cats', 'with', 'half', '-', 'normal', 'beta', '-', 'glucuronidase', 'activity', 'were', 'heterozygous', 'for', 'the', 'missense', 'mutation', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-461 | BssSI digestion of polymerase chain reaction products amplified from genomic DNA indicated that affected cats were homozygous and cats with half-normal beta-glucuronidase activity were heterozygous for the missense mutation. | 0 |
['Carriers', 'identified', 'in', 'this', 'manner', 'produced', 'affected', 'kittens', 'in', 'prospective', 'breedings', ',', 'and', 'a', 'feline', 'MPS', 'VII', 'breeding', 'colony', 'has', 'been', 'established', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0] | train-462 | Carriers identified in this manner produced affected kittens in prospective breedings, and a feline MPS VII breeding colony has been established.. | 1 |
['A', 'common', 'molecular', 'basis', 'for', 'rearrangement', 'disorders', 'on', 'chromosome', '22q11', '.'] | [0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0] | train-463 | A common molecular basis for rearrangement disorders on chromosome 22q11. | 1 |
['The', 'chromosome', '22q11', 'region', 'is', 'susceptible', 'to', 'rearrangements', 'that', 'are', 'associated', 'with', 'congenital', 'anomaly', 'disorders', 'and', 'malignant', 'tumors', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 0] | train-464 | The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. | 1 |
['Three', 'congenital', 'anomaly', 'disorders', ',', 'cat', '-', 'eye', 'syndrome', ',', 'der', '(', ')', 'syndrome', 'and', 'velo', '-', 'cardio', '-', 'facial', 'syndrome', '/', 'DiGeorge', 'syndrome', '(', 'VCFS', '/', 'DGS', ')', 'are', 'associated', 'with', 'tetrasomy', ',', 'trisomy', 'or', 'monosomy', ',', 'respectively', ',', 'for', 'part', 'of', 'chromosome', '22q11', '.'] | [0, 1, 2, 2, 0, 1, 2, 2, 2, 0, 1, 2, 2, 2, 0, 1, 2, 2, 2, 2, 2, 0, 1, 2, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-465 | Three congenital anomaly disorders, cat-eye syndrome, der () syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11. | 1 |
['VCFS', '/', 'DGS', 'is', 'the', 'most', 'common', 'syndrome', 'associated', 'with', '22q11', 'rearrangements', '.'] | [1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-466 | VCFS/DGS is the most common syndrome associated with 22q11 rearrangements. | 1 |
['In', 'order', 'to', 'determine', 'whether', 'there', 'are', 'particular', 'regions', 'on', '22q11', 'that', 'are', 'prone', 'to', 'rearrangements', ',', 'the', 'deletion', 'end', '-', 'points', 'in', 'a', 'large', 'number', 'of', 'VCFS', '/', 'DGS', 'patients', 'were', 'defined', 'by', 'haplotype', 'analysis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0] | train-467 | In order to determine whether there are particular regions on 22q11 that are prone to rearrangements, the deletion end-points in a large number of VCFS/DGS patients were defined by haplotype analysis. | 1 |
['Most', 'VCFS', '/', 'DGS', 'patients', 'have', 'a', 'similar', '3', 'Mb', 'deletion', ',', 'some', 'have', 'a', 'nested', 'distal', 'deletion', 'breakpoint', 'resulting', 'in', 'a', '1', '.'] | [0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-468 | Most VCFS/DGS patients have a similar 3 Mb deletion, some have a nested distal deletion breakpoint resulting in a 1. | 1 |
['5', 'Mb', 'deletion', 'and', 'a', 'few', 'rare', 'patients', 'have', 'unique', 'deletions', 'or', 'translocations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-469 | 5 Mb deletion and a few rare patients have unique deletions or translocations. | 0 |
['The', 'high', 'prevalence', 'of', 'the', 'disorder', 'in', 'the', 'population', 'and', 'the', 'fact', 'that', 'most', 'cases', 'occur', 'sporadically', 'suggest', 'that', 'sequences', 'at', 'or', 'near', 'the', 'breakpoints', 'confer', 'susceptibility', 'to', 'chromosome', 'rearrangements', '.'] | [0, 0, 0, 0, 0, 0, 0, 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-470 | The high prevalence of the disorder in the population and the fact that most cases occur sporadically suggest that sequences at or near the breakpoints confer susceptibility to chromosome rearrangements. | 0 |
['To', 'investigate', 'this', 'hypothesis', ',', 'we', 'developed', 'hamster', '-', 'human', 'somatic', 'hybrid', 'cell', 'lines', 'from', 'VCFS', '/', 'DGS', 'patients', 'with', 'all', 'three', 'classes', 'of', 'deletions', 'and', 'we', 'now', 'show', 'that', 'the', 'breakpoints', 'occur', 'within', 'similar', 'low', 'copy', 'repeats', ',', 'termed', 'LCR22s', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-471 | To investigate this hypothesis, we developed hamster-human somatic hybrid cell lines from VCFS/DGS patients with all three classes of deletions and we now show that the breakpoints occur within similar low copy repeats, termed LCR22s. | 1 |
['To', 'support', 'this', 'idea', 'further', ',', 'we', 'identified', 'a', 'family', 'that', 'carries', 'an', 'interstitial', 'duplication', 'of', 'the', 'same', '3', 'Mb', 'region', 'that', 'is', 'deleted', 'in', 'VCFS', '/', 'DGS', 'patients', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0] | train-472 | To support this idea further, we identified a family that carries an interstitial duplication of the same 3 Mb region that is deleted in VCFS/DGS patients. | 1 |
['We', 'present', 'models', 'to', 'explain', 'how', 'the', 'LCR22s', 'can', 'mediate', 'different', 'homologous', 'recombination', 'events', ',', 'thereby', 'generating', 'a', 'number', 'of', 'rearrangements', 'that', 'are', 'associated', 'with', 'congenital', 'anomaly', 'disorders', '.'] | [0, 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] | train-473 | We present models to explain how the LCR22s can mediate different homologous recombination events, thereby generating a number of rearrangements that are associated with congenital anomaly disorders. | 1 |
['We', 'identified', 'five', 'additional', 'copies', 'of', 'the', 'LCR22', 'on', '22q11', 'that', 'may', 'mediate', 'other', 'rearrangements', 'leading', 'to', 'disease', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-474 | We identified five additional copies of the LCR22 on 22q11 that may mediate other rearrangements leading to disease. | 0 |
['Functional', 'consequences', 'of', 'mutations', 'in', 'the', 'early', 'growth', 'response', '2', 'gene', '(', 'EGR2', ')', 'correlate', 'with', 'severity', 'of', 'human', 'myelinopathies', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-475 | Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. | 1 |
['The', 'early', 'growth', 'response', '2', 'gene', '(', 'EGR2', ')', 'is', 'a', 'Cys2His2zinc', 'finger', 'transcription', 'factor', 'which', 'is', 'thought', 'to', 'play', 'a', 'role', 'in', 'the', 'regulation', 'of', 'peripheral', 'nervous', 'system', 'myelination', '.'] | [0, 0, 0, 0, 0, 0, 0, 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-476 | The early growth response 2 gene (EGR2) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. | 0 |
['This', 'idea', 'is', 'based', 'partly', 'on', 'the', 'phenotype', 'of', 'homozygous', 'Krox20', '(', 'Egr2', ')', 'knockout', 'mice', ',', 'which', 'display', 'hypomyelination', 'of', 'the', 'PNS', 'and', 'a', 'block', 'of', 'Schwann', 'cells', 'at', 'an', 'early', 'stage', 'of', 'differentiation', '.'] | [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] | train-477 | This idea is based partly on the phenotype of homozygous Krox20 (Egr2) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells at an early stage of differentiation. | 1 |
['Mutations', 'in', 'the', 'human', 'EGR2', 'gene', 'have', 'recently', 'been', 'associated', 'with', 'the', 'inherited', 'peripheral', 'neuropathies', 'Charcot', '-', 'Marie', '-', 'Tooth', 'type', '1', ',', 'Dejerine', '-', 'Sottas', 'syndrome', 'and', 'congenital', 'hypomyelinating', 'neuropathy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 1, 2, 2, 2, 2, 2, 2, 0, 1, 2, 2, 2, 0, 1, 2, 2, 0] | train-478 | Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy. | 1 |
['Three', 'of', 'the', 'four', 'EGR2', 'mutations', 'are', 'dominant', 'and', 'occur', 'within', 'the', 'zinc', 'finger', 'DNA', '-', 'binding', 'domain', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-479 | Three of the four EGR2 mutations are dominant and occur within the zinc finger DNA-binding domain. | 0 |
['The', 'fourth', 'mutation', 'is', 'recessive', 'and', 'affects', 'the', 'inhibitory', 'domain', '(', 'R1', ')', 'that', 'binds', 'the', 'NAB', 'transcriptional', 'co', '-', 'repressors', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-480 | The fourth mutation is recessive and affects the inhibitory domain (R1) that binds the NAB transcriptional co-repressors. | 0 |
['A', 'combination', 'of', 'DNA', '-', 'binding', 'assays', 'and', 'transcriptional', 'analysis', 'was', 'used', 'to', 'determine', 'the', 'functional', 'consequences', 'of', 'these', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-481 | A combination of DNA-binding assays and transcriptional analysis was used to determine the functional consequences of these mutations. | 0 |
['The', 'zinc', 'finger', 'mutations', 'affect', 'DNA', 'binding', 'and', 'the', 'amount', 'of', 'residual', 'binding', 'directly', 'correlates', 'with', 'disease', 'severity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-482 | The zinc finger mutations affect DNA binding and the amount of residual binding directly correlates with disease severity. | 0 |
['The', 'R1', 'domain', 'mutation', 'prevents', 'interaction', 'of', 'EGR2', 'with', 'the', 'NAB', 'co', '-', 'repressors', 'and', 'thereby', 'increases', 'transcriptional', 'activity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-483 | The R1 domain mutation prevents interaction of EGR2 with the NAB co-repressors and thereby increases transcriptional activity. | 0 |
['These', 'data', 'provide', 'insight', 'into', 'the', 'possible', 'disease', 'mechanisms', 'underlying', 'EGR2', 'mutations', 'and', 'the', 'reason', 'for', 'varying', 'severity', 'and', 'differences', 'in', 'inheritance', 'patterns', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-484 | These data provide insight into the possible disease mechanisms underlying EGR2 mutations and the reason for varying severity and differences in inheritance patterns.. | 0 |
['Autosomal', 'recessive', 'familial', 'neurohypophyseal', 'diabetes', 'insipidus', 'with', 'continued', 'secretion', 'of', 'mutant', 'weakly', 'active', 'vasopressin', '.'] | [1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-485 | Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. | 1 |
['Familial', 'neurohypophyseal', 'diabetes', 'insipidus', 'is', 'an', 'autosomal', 'dominant', 'disorder', 'characterized', 'by', 'post', '-', 'natal', 'development', 'of', 'arginine', 'vasopressin', '(', 'AVP', ')', 'deficiency', 'due', 'to', 'mutations', 'in', 'the', 'AVP', 'gene', '.'] | [1, 2, 2, 2, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0] | train-486 | Familial neurohypophyseal diabetes insipidus is an autosomal dominant disorder characterized by post-natal development of arginine vasopressin (AVP) deficiency due to mutations in the AVP gene. | 1 |
['All', 'published', 'mutations', 'affect', 'the', 'signal', 'peptide', 'or', 'the', 'neurophysin', '-', 'II', 'carrier', 'protein', 'and', 'are', 'presumed', 'to', 'interfere', 'with', 'processing', 'of', 'the', 'preprohormone', ',', 'leading', 'to', 'neuronal', 'damage', '.'] | [0, 0, 0, 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] | train-487 | All published mutations affect the signal peptide or the neurophysin-II carrier protein and are presumed to interfere with processing of the preprohormone, leading to neuronal damage. | 1 |
['We', 'studied', 'an', 'unusual', 'Palestinian', 'family', 'consisting', 'of', 'asymptomatic', 'first', 'cousin', 'parents', 'and', 'three', 'children', 'affected', 'with', 'neurohypophyseal', 'diabetes', 'insipidus', ',', 'suggesting', 'autosomal', 'recessive', 'inheritance', '.'] | [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] | train-488 | We studied an unusual Palestinian family consisting of asymptomatic first cousin parents and three children affected with neurohypophyseal diabetes insipidus, suggesting autosomal recessive inheritance. | 1 |
['All', 'three', 'affected', 'children', 'were', 'homozygous', 'and', 'the', 'parents', 'heterozygous', 'for', 'a', 'single', 'novel', 'mutation', '(', 'C301', '-', '>', 'T', ')', 'in', 'exon', '1', ',', 'replacing', 'Pro7', 'of', 'mature', 'AVP', 'with', 'Leu', '(', 'Leu', '-', 'AVP', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-489 | All three affected children were homozygous and the parents heterozygous for a single novel mutation (C301-> T) in exon 1, replacing Pro7 of mature AVP with Leu (Leu-AVP). | 0 |
['Leu', '-', 'AVP', 'was', 'a', 'weak', 'agonist', 'with', 'approximately', '30', '-', 'fold', 'reduced', 'binding', 'to', 'the', 'human', 'V2', 'receptor', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-490 | Leu-AVP was a weak agonist with approximately 30-fold reduced binding to the human V2 receptor. | 0 |
['Measured', 'by', 'radioimmunoassay', 'with', 'a', 'synthetic', 'Leu', '-', 'AVP', 'standard', ',', 'serum', 'Leu', '-', 'AVP', 'levels', 'were', 'elevated', 'in', 'all', 'three', 'children', 'and', 'further', 'increased', 'during', 'water', 'deprivation', 'to', 'as', 'high', 'as', '30', 'times', 'normal', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-491 | Measured by radioimmunoassay with a synthetic Leu-AVP standard, serum Leu-AVP levels were elevated in all three children and further increased during water deprivation to as high as 30 times normal. | 0 |
['The', 'youngest', 'child', '(', '2', 'years', 'old', ')', 'was', 'only', 'mildly', 'affected', 'but', 'had', 'Leu', '-', 'AVP', 'levels', 'similar', 'to', 'her', 'severely', 'affected', '8', '-', 'year', '-', 'old', 'brother', ',', 'suggesting', 'that', 'unknown', 'mechanisms', 'may', 'partially', 'compensate', 'for', 'a', 'deficiency', 'of', 'active', 'AVP', 'in', 'very', 'young', 'children', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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] | train-492 | The youngest child (2 years old) was only mildly affected but had Leu-AVP levels similar to her severely affected 8-year-old brother, suggesting that unknown mechanisms may partially compensate for a deficiency of active AVP in very young children.. | 1 |
['X', 'inactivation', 'and', 'somatic', 'cell', 'selection', 'rescue', 'female', 'mice', 'carrying', 'a', 'Piga', '-', 'null', 'mutation', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-493 | X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation. | 0 |
['A', 'somatic', 'mutation', 'in', 'the', 'X', 'linked', 'PIGA', 'gene', 'is', 'responsible', 'for', 'the', 'deficiency', 'of', 'glycosyl', 'phosphatidylinositol', '(', 'GPI', ')', '-', 'anchored', 'proteins', 'on', 'blood', 'cells', 'from', 'patients', 'with', 'paroxysmal', 'nocturnal', 'hemoglobinuria', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-494 | A somatic mutation in the X linked PIGA gene is responsible for the deficiency of glycosyl phosphatidylinositol (GPI)-anchored proteins on blood cells from patients with paroxysmal nocturnal hemoglobinuria. | 1 |
['No', 'inherited', 'form', 'of', 'GPI', '-', 'anchor', 'deficiency', 'has', 'been', 'described', '.'] | [0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0] | train-495 | No inherited form of GPI-anchor deficiency has been described. | 1 |
['Because', 'conventional', 'Piga', 'gene', 'knockout', 'is', 'associated', 'with', 'high', 'embryonic', 'lethality', 'in', 'chimeric', 'mice', ',', 'we', 'used', 'the', 'Cre', '/', 'loxP', 'system', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-496 | Because conventional Piga gene knockout is associated with high embryonic lethality in chimeric mice, we used the Cre/loxP system. | 1 |
['We', 'generated', 'mice', 'in', 'which', 'two', 'loxP', 'sites', 'flank', 'part', 'of', 'Piga', 'exon', '2', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-497 | We generated mice in which two loxP sites flank part of Piga exon 2. | 0 |
['After', 'crossbreeding', 'with', 'female', 'mice', 'of', 'the', 'EIIa', '-', 'cre', 'strain', ',', 'the', 'floxed', 'allele', 'undergoes', 'Cre', '-', 'mediated', 'recombination', 'with', 'high', 'efficiency', 'during', 'early', 'embryonic', 'development', '.'] | [0, 0, 0, 0, 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-498 | After crossbreeding with female mice of the EIIa-cre strain, the floxed allele undergoes Cre-mediated recombination with high efficiency during early embryonic development. | 0 |
['Because', 'of', 'X', 'chromosome', 'inactivation', ',', 'female', 'offspring', 'are', 'mosaic', 'for', 'cells', 'that', 'express', 'or', 'lack', 'GPI', '-', 'linked', 'proteins', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-499 | Because of X chromosome inactivation, female offspring are mosaic for cells that express or lack GPI-linked proteins. | 0 |
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