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['Moreover', ',', 'we', 'were', 'able', 'to', 'restore', 'the', 'peroxisomal', 'beta', '-', 'oxidation', 'defect', 'in', 'the', 'liver', 'of', 'ALDP', '-', 'deficient', 'mice', 'by', 'stimulation', 'of', 'ALDRP', 'and', 'PMP70', 'gene', 'expression', 'through', 'a', 'dietary', 'treatment', 'with', 'the', 'peroxisome', 'proliferator', 'fenofibrate', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-300 | Moreover, we were able to restore the peroxisomal beta-oxidation defect in the liver of ALDP-deficient mice by stimulation of ALDRP and PMP70 gene expression through a dietary treatment with the peroxisome proliferator fenofibrate. | 0 |
['These', 'results', 'suggest', 'that', 'a', 'correction', 'of', 'the', 'biochemical', 'defect', 'in', 'X', '-', 'ALD', 'could', 'be', 'possible', 'by', 'drug', '-', 'induced', 'overexpression', 'or', 'ectopic', 'expression', 'of', 'ALDRP', '.', '.'] | [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] | train-301 | These results suggest that a correction of the biochemical defect in X-ALD could be possible by drug-induced overexpression or ectopic expression of ALDRP.. | 1 |
['Centrosome', 'amplification', 'and', 'a', 'defective', 'G2', '-', 'M', 'cell', 'cycle', 'checkpoint', 'induce', 'genetic', 'instability', 'in', 'BRCA1', 'exon', '11', 'isoform', '-', 'deficient', 'cells', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-302 | Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. | 0 |
['Germline', 'mutations', 'of', 'the', 'Brca1', 'tumor', 'suppressor', 'gene', 'predispose', 'women', 'to', 'breast', 'and', 'ovarian', 'cancers', '.'] | [0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-303 | Germline mutations of the Brca1 tumor suppressor gene predispose women to breast and ovarian cancers. | 1 |
['To', 'study', 'mechanisms', 'underlying', 'BRCA1', '-', 'related', 'tumorigenesis', ',', 'we', 'derived', 'mouse', 'embryonic', 'fibroblast', 'cells', 'carrying', 'a', 'targeted', 'deletion', 'of', 'exon', '11', 'of', 'the', 'Brca1', 'gene', '.'] | [0, 0, 0, 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-304 | To study mechanisms underlying BRCA1-related tumorigenesis, we derived mouse embryonic fibroblast cells carrying a targeted deletion of exon 11 of the Brca1 gene. | 0 |
['We', 'show', 'that', 'the', 'mutant', 'cells', 'maintain', 'an', 'intact', 'G1', '-', 'S', 'cell', 'cycle', 'checkpoint', 'and', 'proliferate', 'poorly', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-305 | We show that the mutant cells maintain an intact G1-S cell cycle checkpoint and proliferate poorly. | 0 |
['However', ',', 'a', 'defective', 'G2', '-', 'M', 'checkpoint', 'in', 'these', 'cells', 'is', 'accompanied', 'by', 'extensive', 'chromosomal', 'abnormalities', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | train-306 | However, a defective G2-M checkpoint in these cells is accompanied by extensive chromosomal abnormalities. | 1 |
['Mutant', 'fibroblasts', 'contain', 'multiple', ',', 'functional', 'centrosomes', ',', 'which', 'lead', 'to', 'unequal', 'chromosome', 'segregation', ',', 'abnormal', 'nuclear', 'division', ',', 'and', 'aneuploidy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-307 | Mutant fibroblasts contain multiple, functional centrosomes, which lead to unequal chromosome segregation, abnormal nuclear division, and aneuploidy. | 1 |
['These', 'data', 'uncover', 'an', 'essential', 'role', 'of', 'BRCA1', 'in', 'maintaining', 'genetic', 'stability', 'through', 'the', 'regulation', 'of', 'centrosome', 'duplication', 'and', 'the', 'G2', '-', 'M', 'checkpoint', 'and', 'provide', 'a', 'molecular', 'basis', 'for', 'the', 'role', 'of', 'BRCA1', 'in', 'tumorigenesis', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-308 | These data uncover an essential role of BRCA1 in maintaining genetic stability through the regulation of centrosome duplication and the G2-M checkpoint and provide a molecular basis for the role of BRCA1 in tumorigenesis.. | 0 |
['Defective', 'CD95', '/', 'APO', '-', '1', '/', 'Fas', 'signal', 'complex', 'formation', 'in', 'the', 'human', 'autoimmune', 'lymphoproliferative', 'syndrome', ',', 'type', 'Ia', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0] | train-309 | Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. | 1 |
['Heterozygous', 'mutations', 'in', 'the', 'CD95', '(', 'APO', '-', '1', '/', 'Fas', ')', 'receptor', 'occur', 'in', 'most', 'individuals', 'with', 'autoimmune', 'lymphoproliferative', 'syndrome', '(', 'ALPS', ')', 'and', 'dominantly', 'interfere', 'with', 'apoptosis', 'by', 'an', 'unknown', 'mechanism', '.'] | [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] | train-310 | Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism. | 1 |
['We', 'show', 'that', 'local', 'or', 'global', 'alterations', 'in', 'the', 'structure', 'of', 'the', 'cytoplasmic', 'death', 'domain', 'from', 'nine', 'independent', 'ALPS', 'CD95', 'death', '-', 'domain', 'mutations', 'result', 'in', 'a', 'failure', 'to', 'bind', 'the', 'FADD', '/', 'MORT1', 'signaling', 'protein', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-311 | We show that local or global alterations in the structure of the cytoplasmic death domain from nine independent ALPS CD95 death-domain mutations result in a failure to bind the FADD/MORT1 signaling protein. | 1 |
['Despite', 'heterozygosity', 'for', 'the', 'abnormal', 'allele', ',', 'lymphocytes', 'from', 'ALPS', 'patients', 'showed', 'markedly', 'decreased', 'FADD', 'association', 'and', 'a', 'loss', 'of', 'caspase', 'recruitment', 'and', 'activation', 'after', 'CD95', 'crosslinking', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-312 | Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking. | 1 |
['These', 'data', 'suggest', 'that', 'intracytoplasmic', 'CD95', 'mutations', 'in', 'ALPS', 'impair', 'apoptosis', 'chiefly', 'by', 'disrupting', 'death', '-', 'domain', 'interactions', 'with', 'the', 'signaling', 'protein', 'FADD', '/', 'MORT1', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-313 | These data suggest that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1.. | 1 |
['Analysis', 'of', 'alkaptonuria', '(', 'AKU', ')', 'mutations', 'and', 'polymorphisms', 'reveals', 'that', 'the', 'CCC', 'sequence', 'motif', 'is', 'a', 'mutational', 'hot', 'spot', 'in', 'the', 'homogentisate', '1', ',', '2', 'dioxygenase', 'gene', '(', 'HGO', ')', '.'] | [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, 0, 0, 0] | train-314 | Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1, 2 dioxygenase gene (HGO). | 1 |
['We', 'recently', 'showed', 'that', 'alkaptonuria', '(', 'AKU', ')', 'is', 'caused', 'by', 'loss', '-', 'of', '-', 'function', 'mutations', 'in', 'the', 'homogentisate', '1', ',', '2', 'dioxygenase', 'gene', '(', 'HGO', ')', '.'] | [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] | train-315 | We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1, 2 dioxygenase gene (HGO). | 1 |
['Herein', 'we', 'describe', 'haplotype', 'and', 'mutational', 'analyses', 'of', 'HGO', 'in', 'seven', 'new', 'AKU', 'pedigrees', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-316 | Herein we describe haplotype and mutational analyses of HGO in seven new AKU pedigrees. | 1 |
['These', 'analyses', 'identified', 'two', 'novel', 'single', '-', 'nucleotide', 'polymorphisms', '(', 'INV4', '+', '31A', '-', '-', '>', 'G', 'and', 'INV11', '+', '18A', '-', '-', '>', 'G', ')', 'and', 'six', 'novel', 'AKU', 'mutations', '(', 'INV1', '-', '1G', '-', '-', '>', 'A', ',', 'W60G', ',', 'Y62C', ',', 'A122D', ',', 'P230T', ',', 'and', 'D291E', ')', ',', 'which', 'further', 'illustrates', 'the', 'remarkable', 'allelic', 'heterogeneity', 'found', 'in', 'AKU', '.'] | [0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-317 | These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU. | 1 |
['Reexamination', 'of', 'all', '29', 'mutations', 'and', 'polymorphisms', 'thus', 'far', 'described', 'in', 'HGO', 'shows', 'that', 'these', 'nucleotide', 'changes', 'are', 'not', 'randomly', 'distributed', ';', 'the', 'CCC', 'sequence', 'motif', 'and', 'its', 'inverted', 'complement', ',', 'GGG', ',', 'are', 'preferentially', 'mutated', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-318 | Reexamination of all 29 mutations and polymorphisms thus far described in HGO shows that these nucleotide changes are not randomly distributed;the CCC sequence motif and its inverted complement, GGG, are preferentially mutated. | 0 |
['These', 'analyses', 'also', 'demonstrated', 'that', 'the', 'nucleotide', 'substitutions', 'in', 'HGO', 'do', 'not', 'involve', 'CpG', 'dinucleotides', ',', 'which', 'illustrates', 'important', 'differences', 'between', 'HGO', 'and', 'other', 'genes', 'for', 'the', 'occurrence', 'of', 'mutation', 'at', 'specific', 'short', '-', 'sequence', 'motifs', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-319 | These analyses also demonstrated that the nucleotide substitutions in HGO do not involve CpG dinucleotides, which illustrates important differences between HGO and other genes for the occurrence of mutation at specific short-sequence motifs. | 0 |
['Because', 'the', 'CCC', 'sequence', 'motifs', 'comprise', 'a', 'significant', 'proportion', '(', '34', '.', '5', '%', ')', 'of', 'all', 'mutated', 'bases', 'that', 'have', 'been', 'observed', 'in', 'HGO', ',', 'we', 'conclude', 'that', 'the', 'CCC', 'triplet', 'is', 'a', 'mutational', 'hot', 'spot', 'in', 'HGO', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-320 | Because the CCC sequence motifs comprise a significant proportion (34. 5%) of all mutated bases that have been observed in HGO, we conclude that the CCC triplet is a mutational hot spot in HGO. | 0 |
['Fabry', 'disease', ':', 'identification', 'of', 'novel', 'alpha', '-', 'galactosidase', 'A', 'mutations', 'and', 'molecular', 'carrier', 'detection', 'by', 'use', 'of', 'fluorescent', 'chemical', 'cleavage', 'of', 'mismatches', '.'] | [1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-321 | Fabry disease:identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. | 1 |
['Fabry', 'disease', '(', 'FD', ')', '(', 'angiokeratoma', 'corporis', 'diffusum', ')', 'is', 'an', 'X', '-', 'linked', 'inborn', 'error', 'of', 'glycosphingolipid', 'metabolism', 'caused', 'by', 'defects', 'in', 'the', 'lysosomal', 'alpha', '-', 'galactosidase', 'A', 'gene', '(', 'GLA', ')', '.'] | [1, 2, 0, 1, 0, 0, 1, 2, 2, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-322 | Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene (GLA). | 1 |
['The', 'enzymatic', 'defect', 'leads', 'to', 'the', 'systemic', 'accumulation', 'of', 'neutral', 'glycosphingolipids', 'with', 'terminal', 'alpha', '-', 'galactosyl', 'moieties', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-323 | The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties. | 0 |
['Clinically', ',', 'affected', 'hemizygous', 'males', 'have', 'angiokeratoma', ',', 'severe', 'acroparesthesia', ',', 'renal', 'failure', ',', 'and', 'vasculopathy', 'of', 'the', 'heart', 'and', 'brain', '.'] | [0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 1, 2, 0, 0, 1, 2, 2, 2, 2, 2, 0] | train-324 | Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain. | 1 |
['While', 'demonstration', 'of', 'alpha', '-', 'galactosidase', 'deficiency', 'in', 'leukocytes', 'is', 'diagnostic', 'in', 'affected', 'males', ',', 'enzymatic', 'detection', 'of', 'female', 'carriers', 'is', 'often', 'inconclusive', ',', 'due', 'to', 'random', 'X', '-', 'chromosomal', 'inactivation', ',', 'underlining', 'the', 'need', 'of', 'molecular', 'investigations', 'for', 'accurate', 'genetic', 'counseling', '.'] | [0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-325 | While demonstration of alpha-galactosidase deficiency in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling. | 1 |
['By', 'use', 'of', 'chemical', 'cleavage', 'of', 'mismatches', 'adapted', 'to', 'fluorescence', '-', 'based', 'detection', 'systems', ',', 'we', 'have', 'characterized', 'the', 'mutations', 'underlying', 'alpha', '-', 'Gal', 'A', 'deficiency', 'in', '16', 'individuals', 'from', 'six', 'unrelated', 'families', 'with', 'FD', '.'] | [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, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-326 | By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD. | 1 |
['The', 'mutational', 'spectrum', 'included', 'five', 'missense', 'mutations', '(', 'C202W', ',', 'C223G', ',', 'N224D', ',', 'R301Q', ',', 'and', 'Q327K', ')', 'and', 'one', 'splice', '-', 'site', 'mutation', '[', 'IVS3', 'G', '(', '-', '1', ')', '-', '-', '>', 'C', ']', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-327 | The mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G (- 1)-->C]. | 0 |
['Studies', 'at', 'the', 'mRNA', 'level', 'showed', 'that', 'the', 'latter', 'led', 'to', 'altered', 'pre', '-', 'mRNA', 'splicing', 'with', 'consequent', 'alteration', 'of', 'the', 'mRNA', 'translational', 'reading', 'frame', 'and', 'generation', 'of', 'a', 'premature', 'termination', 'codon', 'of', 'translation', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-328 | Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation. | 0 |
['By', 'use', 'of', 'this', 'strategy', ',', 'carrier', 'status', 'was', 'accurately', 'assessed', 'in', 'all', 'seven', 'at', '-', 'risk', 'females', 'tested', ',', 'whereas', 'enzymatic', 'dosages', 'failed', 'to', 'diagnose', 'or', 'exclude', 'heterozygosity', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 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-329 | By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity.. | 0 |
['Prenatal', 'diagnosis', 'by', 'FISH', 'in', 'a', 'family', 'with', 'Pelizaeus', '-', 'Merzbacher', 'disease', 'caused', 'by', 'duplication', 'of', 'PLP', 'gene', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0] | train-330 | Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene. | 1 |
['A', 'diagnosis', 'of', 'Pelizaeus', '-', 'Merzbacher', 'disease', '(', 'MIM', '312080', ')', 'was', 'made', 'in', 'a', 'young', 'boy', '.'] | [0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-331 | A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. | 1 |
['No', 'mutation', 'in', 'the', 'coding', 'region', 'of', 'the', 'proteolipid', 'protein', '(', 'PLP', ')', 'gene', 'had', 'been', 'found', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-332 | No mutation in the coding region of the proteolipid protein (PLP) gene had been found. | 0 |
['The', 'boys', 'maternal', 'aunt', 'came', 'for', 'prenatal', 'diagnosis', 'when', '16', '+', 'weeks', 'pregnant', 'and', 'carrying', 'a', 'male', 'fetus', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-333 | The boys maternal aunt came for prenatal diagnosis when 16+weeks pregnant and carrying a male fetus. | 0 |
['Samples', 'were', 'tested', 'for', 'duplication', 'of', 'the', 'PLP', 'gene', ',', 'by', 'interphase', 'FISH', ',', 'in', 'lymphocyte', 'preparations', 'from', 'the', 'proband', ',', 'his', 'aunt', 'and', 'an', 'amniotic', 'fluid', 'cell', 'preparation', 'from', 'the', 'fetus', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 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-334 | Samples were tested for duplication of the PLP gene, by interphase FISH, in lymphocyte preparations from the proband, his aunt and an amniotic fluid cell preparation from the fetus. | 0 |
['The', 'proband', 'was', 'found', 'to', 'carry', 'the', 'duplication', ',', 'thus', 'confirming', 'the', 'diagnosis', 'of', 'Pelizaeus', 'Merzbacher', 'disease', ',', 'but', 'neither', 'the', 'aunt', 'nor', 'the', 'fetus', 'carried', 'a', 'duplication', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-335 | The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus Merzbacher disease, but neither the aunt nor the fetus carried a duplication.. | 1 |
['Dominant', 'negative', 'effect', 'of', 'the', 'APC1309', 'mutation', ':', 'a', 'possible', 'explanation', 'for', 'genotype', '-', 'phenotype', 'correlations', 'in', 'familial', 'adenomatous', 'polyposis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-336 | Dominant negative effect of the APC1309 mutation:a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. | 1 |
['Inactivation', 'of', 'the', 'adenomatous', 'polyposis', 'coli', '(', 'APC', ')', 'gene', 'product', 'initiates', 'colorectal', 'tumorigenesis', '.'] | [0, 0, 0, 1, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0] | train-337 | Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis. | 1 |
['Patients', 'with', 'familial', 'APC', '(', 'FAP', ')', 'carry', 'germ', '-', 'line', 'mutations', 'in', 'the', 'APC', 'gene', 'and', 'develop', 'multiple', 'colorectal', 'adenomas', 'and', 'subsequent', 'carcinomas', 'early', 'in', 'life', '.'] | [0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 2, 0, 0, 1, 0, 0, 0, 0] | train-338 | Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life. | 1 |
['The', 'severity', 'of', 'the', 'disease', 'correlates', 'with', 'the', 'position', 'of', 'the', 'inherited', 'APC', 'mutation', '(', 'genotype', '-', 'phenotype', 'correlation', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0] | train-339 | The severity of the disease correlates with the position of the inherited APC mutation (genotype-phenotype correlation). | 1 |
['Together', 'with', 'the', 'fact', 'that', 'both', 'germ', '-', 'line', 'and', 'sporadic', 'APC', 'mutations', 'cluster', 'in', 'the', 'central', 'region', 'of', 'the', 'APC', 'gene', ',', 'this', 'points', 'to', 'a', 'dominant', 'negative', 'effect', 'of', 'certain', 'APC', 'mutants', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-340 | Together with the fact that both germ-line and sporadic APC mutations cluster in the central region of the APC gene, this points to a dominant negative effect of certain APC mutants. | 1 |
['Loss', 'of', 'APC', 'function', 'was', 'recently', 'shown', 'to', 'result', 'in', 'enhanced', 'beta', '-', 'catenin', '-', '/', 'Tcf', '-', 'mediated', 'transcription', 'in', 'colon', 'epithelial', 'cells', '.'] | [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] | train-341 | Loss of APC function was recently shown to result in enhanced beta-catenin-/ Tcf-mediated transcription in colon epithelial cells. | 1 |
['Here', ',', 'we', 'provide', 'experimental', 'evidence', 'for', 'a', 'dominant', 'negative', 'effect', 'of', 'APC', 'gene', 'products', 'associated', 'with', 'severe', 'polyposis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 1, 0] | train-342 | Here, we provide experimental evidence for a dominant negative effect of APC gene products associated with severe polyposis. | 1 |
['Wild', '-', 'type', 'APC', 'activity', 'in', 'beta', '-', 'catenin', '-', '/', 'Tcf', '-', 'mediated', 'transcription', 'was', 'strongly', 'inhibited', 'by', 'a', 'mutant', 'APC', 'that', 'is', 'truncated', 'at', 'codon', '1309', '.'] | [0, 0, 0, 1, 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] | train-343 | Wild-type APC activity in beta-catenin-/ Tcf-mediated transcription was strongly inhibited by a mutant APC that is truncated at codon 1309. | 1 |
['In', 'contrast', ',', 'mutant', 'APC', 'gene', 'products', 'that', 'are', 'associated', 'with', 'attenuated', 'polyposis', '(', 'codon', '386', 'or', '1465', ')', 'interfered', 'only', 'weakly', 'with', 'wild', '-', 'type', 'APC', 'activity', '.'] | [0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-344 | In contrast, mutant APC gene products that are associated with attenuated polyposis (codon 386 or 1465) interfered only weakly with wild-type APC activity. | 1 |
['These', 'results', 'suggest', 'a', 'molecular', 'explanation', 'for', 'the', 'genotype', '-', 'phenotype', 'correlation', 'in', 'FAP', 'patients', 'and', 'support', 'the', 'idea', 'that', 'colorectal', 'tumor', 'growth', 'might', 'be', ',', 'in', 'part', ',', 'driven', 'by', 'selection', 'for', 'a', 'mutation', 'in', 'the', 'mutation', 'cluster', 'region', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-345 | These results suggest a molecular explanation for the genotype-phenotype correlation in FAP patients and support the idea that colorectal tumor growth might be, in part, driven by selection for a mutation in the mutation cluster region.. | 1 |
['BRCA1', 'interacts', 'with', 'components', 'of', 'the', 'histone', 'deacetylase', 'complex', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-346 | BRCA1 interacts with components of the histone deacetylase complex. | 0 |
['Germ', '-', 'line', 'mutations', 'in', 'the', 'BRCA1', 'tumor', '-', 'suppressor', 'gene', 'are', 'associated', 'with', 'an', 'increased', 'susceptibility', 'to', 'breast', 'and', 'ovarian', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-347 | Germ-line mutations in the BRCA1 tumor-suppressor gene are associated with an increased susceptibility to breast and ovarian cancer. | 1 |
['BRCA1', 'contains', 'a', 'carboxyl', '-', 'terminal', 'domain', '(', 'BRCT', ')', 'that', 'is', 'shared', 'with', 'several', 'other', 'proteins', 'involved', 'in', 'maintaining', 'genome', 'integrity', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-348 | BRCA1 contains a carboxyl-terminal domain (BRCT) that is shared with several other proteins involved in maintaining genome integrity. | 0 |
['In', 'an', 'effort', 'to', 'understand', 'the', 'function', 'of', 'BRCA1', ',', 'we', 'sought', 'to', 'isolate', 'proteins', 'that', 'interact', 'with', 'the', 'BRCT', 'domain', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-349 | In an effort to understand the function of BRCA1, we sought to isolate proteins that interact with the BRCT domain. | 0 |
['Purified', 'BRCT', 'polypeptide', 'was', 'used', 'as', 'a', 'probe', 'to', 'screen', 'a', 'human', 'placenta', 'cDNA', 'expression', 'library', 'by', 'Far', 'Western', 'analysis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-350 | Purified BRCT polypeptide was used as a probe to screen a human placenta cDNA expression library by Far Western analysis. | 0 |
['Here', 'we', 'report', 'that', 'BRCA1', 'interacts', 'in', 'vivo', 'and', 'in', 'vitro', 'with', 'the', 'Rb', '-', 'binding', 'proteins', ',', 'RbAp46', 'and', 'RbAp48', ',', 'as', 'well', 'as', 'with', 'Rb', '.'] | [0, 0, 0, 0, 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-351 | Here we report that BRCA1 interacts in vivo and in vitro with the Rb-binding proteins, RbAp46 and RbAp48, as well as with Rb. | 0 |
['Moreover', ',', 'the', 'BRCT', 'domain', 'associates', 'with', 'the', 'histone', 'deacetylases', 'HDAC1', 'and', 'HDAC2', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-352 | Moreover, the BRCT domain associates with the histone deacetylases HDAC1 and HDAC2. | 0 |
['These', 'results', 'demonstrate', 'that', 'BRCA1', 'interacts', 'with', 'components', 'of', 'the', 'histone', 'deacetylase', 'complex', ',', 'and', 'therefore', 'may', 'explain', 'the', 'involvement', 'of', 'BRCA1', 'in', 'multiple', 'processes', 'such', 'as', 'transcription', ',', 'DNA', 'repair', ',', 'and', 'recombination', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-353 | These results demonstrate that BRCA1 interacts with components of the histone deacetylase complex, and therefore may explain the involvement of BRCA1 in multiple processes such as transcription, DNA repair, and recombination.. | 0 |
['Combined', 'genetic', 'deficiency', 'of', 'C6', 'and', 'C7', 'in', 'man', '.'] | [1, 2, 2, 2, 2, 2, 2, 0, 0, 0] | train-354 | Combined genetic deficiency of C6 and C7 in man. | 1 |
['By', 'routine', 'screening', 'of', 'sera', ',', 'a', 'subject', 'was', 'discovered', 'who', 'showed', 'a', 'sub', '-', 'total', 'deficiency', 'of', 'C6', 'and', 'C7', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0] | train-355 | By routine screening of sera, a subject was discovered who showed a sub-total deficiency of C6 and C7. | 1 |
['No', 'clinical', 'disease', 'was', 'associated', 'with', 'this', 'deficiency', 'which', 'was', 'transmitted', 'through', 'the', 'subjects', 'family', 'as', 'a', 'single', 'genetic', 'characteristic', ',', 'the', 'C6', 'deficiency', 'being', 'associated', 'with', 'a', 'silent', 'allele', 'at', 'the', 'structural', 'locus', '.'] | [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] | train-356 | No clinical disease was associated with this deficiency which was transmitted through the subjects family as a single genetic characteristic, the C6 deficiency being associated with a silent allele at the structural locus. | 1 |
['The', 'propositus', 'was', 'found', 'to', 'have', 'low', 'quantities', 'of', 'an', 'abnormal', 'C6', 'which', 'was', 'both', 'antigenically', 'deficient', 'and', 'smaller', 'in', 'size', 'than', 'normal', 'C6', '(', '110', ',', '000', 'daltons', 'compared', 'with', '140', ',', '000', 'daltons', ')', 'and', 'small', 'quantities', 'of', 'apparently', 'normal', 'C7', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-357 | The propositus was found to have low quantities of an abnormal C6 which was both antigenically deficient and smaller in size than normal C6 (110, 000 daltons compared with 140, 000 daltons) and small quantities of apparently normal C7. | 0 |
['It', 'is', 'concluded', 'that', 'the', 'most', 'likely', 'explanation', 'for', 'this', 'defect', 'is', 'that', 'the', 'subject', 'has', 'a', 'structural', 'mutation', 'in', 'his', 'C6', 'gene', 'which', 'produces', 'hyopsynthesis', 'not', 'only', 'of', 'C6', 'but', 'also', 'of', 'the', 'closely', 'linked', 'gene', 'for', 'C7', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-358 | It is concluded that the most likely explanation for this defect is that the subject has a structural mutation in his C6 gene which produces hyopsynthesis not only of C6 but also of the closely linked gene for C7. | 0 |
['These', 'findings', 'suggest', 'the', 'possibility', 'that', 'C6', 'and', 'C7', 'may', 'function', 'as', 'a', 'single', 'genetic', 'unit', 'and', 'that', 'the', 'primary', 'transcript', 'copied', 'from', 'the', 'genome', 'includes', 'information', 'for', 'both', 'proteins', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 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-359 | These findings suggest the possibility that C6 and C7 may function as a single genetic unit and that the primary transcript copied from the genome includes information for both proteins.. | 0 |
['Changes', 'at', 'P183', 'of', 'emerin', 'weaken', 'its', 'protein', '-', 'protein', 'interactions', 'resulting', 'in', 'X', '-', 'linked', 'Emery', '-', 'Dreifuss', 'muscular', 'dystrophy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0] | train-360 | Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. | 1 |
['Emery', '-', 'Dreifuss', 'muscular', 'dystrophy', '(', 'EDMD', ')', 'is', 'an', 'X', '-', 'linked', 'recessive', 'muscular', 'dystrophy', 'characterized', 'by', 'early', 'contractures', 'of', 'the', 'elbows', ',', 'Achilles', 'tendons', 'and', 'spine', ',', 'slowly', 'progressive', 'muscle', 'wasting', 'and', 'weakness', ',', 'and', 'cardiomyopathy', 'associated', 'with', 'cardiac', 'conduction', 'defects', '.'] | [1, 2, 2, 2, 2, 0, 1, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 1, 2, 0, 1, 0, 0, 1, 0, 0, 1, 2, 2, 0] | train-361 | Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects. | 1 |
['The', 'emerin', 'gene', 'has', 'been', 'mapped', 'to', 'Xq28', 'and', 'encodes', 'a', '34', '-', 'kDa', 'serine', '-', 'rich', 'protein', ',', 'emerin', ',', 'which', 'has', 'been', 'localized', 'to', 'the', 'nuclear', 'envelope', 'in', 'a', 'wide', 'variety', 'of', 'tissues', ',', 'including', 'skeletal', 'and', 'cardiac', 'muscle', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-362 | The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in a wide variety of tissues, including skeletal and cardiac muscle. | 0 |
['Mutations', 'spanning', 'the', 'emerin', 'gene', 'have', 'been', 'identified', 'in', 'patients', 'with', 'EDMD', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-363 | Mutations spanning the emerin gene have been identified in patients with EDMD. | 1 |
['We', 'present', 'here', 'the', 'effect', ',', 'on', 'emerin', 'protein', 'expression', ',', 'of', 'two', 'missense', 'mutations', 'identified', 'in', 'unrelated', 'EDMD', 'patients', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-364 | We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients. | 1 |
['These', 'alterations', 'predict', 'the', 'replacement', 'of', 'a', 'proline', 'residue', 'at', 'position', '183', 'with', 'either', 'a', 'histidine', 'or', 'a', 'threonine', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-365 | These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine. | 0 |
['Biochemical', 'analysis', 'has', 'demonstrated', 'that', 'the', 'mobility', 'and', 'expression', 'levels', 'of', 'the', 'mutant', 'forms', 'of', 'emerin', 'are', 'indistinguishable', 'from', 'that', 'of', 'wild', '-', 'type', 'emerin', ',', 'but', 'that', 'they', 'have', 'weakened', 'interactions', 'with', 'nuclear', 'lamina', 'components', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-366 | Biochemical analysis has demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from that of wild-type emerin, but that they have weakened interactions with nuclear lamina components. | 0 |
['In', 'comparison', 'with', 'the', 'usual', 'EDMD', 'phenotype', ',', 'patients', 'with', 'P183', 'missense', 'mutations', 'have', 'a', 'later', 'age', 'at', 'onset', 'of', 'first', 'symptoms', ',', 'elbow', 'contractures', ',', 'ankle', 'contractures', ',', 'upper', 'limb', 'weakness', 'and', 'lower', 'limb', 'weakness', ',', 'but', 'there', 'is', 'no', 'difference', 'for', 'the', 'age', 'at', 'onset', 'of', 'cardiac', 'involvement', '.'] | [0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | train-367 | In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement. | 1 |
['This', 'is', 'the', 'first', 'report', 'of', 'protein', 'studies', 'on', 'patients', 'with', 'missense', 'mutations', 'resulting', 'in', 'the', 'clinical', 'features', 'of', 'EDMD', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-368 | This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD. | 1 |
['These', 'studies', 'demonstrate', 'the', 'importance', 'of', 'proline', '183', 'for', 'the', 'proper', 'structure', '/', 'function', 'of', 'emerin', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-369 | These studies demonstrate the importance of proline 183 for the proper structure/function of emerin.. | 0 |
['Microdeletions', 'at', 'chromosome', 'bands', '1q32', '-', 'q41', 'as', 'a', 'cause', 'of', 'Van', 'der', 'Woude', 'syndrome', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-370 | Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. | 1 |
['Van', 'der', 'Woude', 'syndrome', '(', 'VWS', ')', 'is', 'an', 'autosomal', 'dominant', 'disorder', 'comprising', 'cleft', 'lip', 'and', '/', 'or', 'cleft', 'palate', 'and', 'lip', 'pits', '.'] | [1, 2, 2, 2, 0, 1, 0, 0, 0, 1, 2, 2, 0, 1, 2, 0, 0, 0, 1, 2, 0, 1, 2, 0] | train-371 | Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits. | 1 |
['We', 'reported', 'previously', 'a', 'family', 'whose', 'underlying', 'mutation', 'is', 'a', '500', '-', '800', 'kb', 'deletion', 'localized', 'to', 'chromosome', 'bands', '1q32', '-', 'q41', '[', 'Sander', 'et', 'al', '.', ',', '1994', 'Hum', 'Mol', 'Genet', '3', '576', '-', '578', ']', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-372 | We reported previously a family whose underlying mutation is a 500-800 kb deletion localized to chromosome bands 1q32-q41 [Sander et al., 1994 Hum Mol Genet 3 576-578]. | 0 |
['Along', 'with', 'cleft', 'lip', '/', 'palate', 'and', 'lip', 'pits', ',', 'affected', 'relatives', 'exhibit', 'developmental', 'delays', ',', 'suggesting', 'that', 'the', 'function', 'of', 'a', 'gene', 'nearby', 'may', 'also', 'be', 'disrupted', '.'] | [0, 0, 1, 2, 2, 2, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-373 | Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted. | 1 |
['To', 'further', 'localize', 'the', 'VWS', 'gene', 'we', 'searched', 'for', 'other', 'deletions', 'that', 'cause', 'VWS', '.'] | [0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-374 | To further localize the VWS gene we searched for other deletions that cause VWS. | 1 |
['An', 'allele', 'loss', 'assay', 'was', 'performed', 'using', 'a', 'novel', 'highly', 'polymorphic', 'marker', ',', 'D1S3753', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-375 | An allele loss assay was performed using a novel highly polymorphic marker, D1S3753. | 0 |
['From', 'a', 'panel', 'of', '37', 'unrelated', 'individuals', ',', 'we', 'detected', 'an', 'allele', 'loss', 'in', 'one', 'family', ',', 'indicating', 'the', 'presence', 'of', 'a', 'deletion', '.'] | [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-376 | From a panel of 37 unrelated individuals, we detected an allele loss in one family, indicating the presence of a deletion. | 0 |
['In', 'this', 'family', ',', 'the', 'phenotype', 'in', 'three', 'generations', 'of', 'affected', 'individuals', 'was', 'confined', 'to', 'the', 'cardinal', 'signs', 'of', 'VWS', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-377 | In this family, the phenotype in three generations of affected individuals was confined to the cardinal signs of VWS. | 1 |
['Surprisingly', ',', 'mapping', 'of', 'the', 'new', 'deletion', 'showed', 'that', 'it', 'extended', '0', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-378 | Surprisingly, mapping of the new deletion showed that it extended 0. | 0 |
['2', '-', '1', 'Mb', 'beyond', 'the', 'proximal', 'breakpoint', 'for', 'the', 'deletion', 'described', 'previously', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-379 | 2-1 Mb beyond the proximal breakpoint for the deletion described previously. | 0 |
['No', 'deletions', 'were', 'detected', 'in', 'seven', 'cases', 'of', 'popliteal', 'pterygia', 'syndrome', ',', '76', 'cases', 'of', 'mixed', 'syndromic', 'forms', 'of', 'cleft', 'lip', 'and', 'palate', ',', 'and', '178', 'cases', 'of', 'nonsyndromic', 'cleft', 'lip', 'and', 'palate', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0] | train-380 | No deletions were detected in seven cases of popliteal pterygia syndrome, 76 cases of mixed syndromic forms of cleft lip and palate, and 178 cases of nonsyndromic cleft lip and palate. | 1 |
['Splicing', 'defects', 'in', 'the', 'ataxia', '-', 'telangiectasia', 'gene', ',', 'ATM', ':', 'underlying', 'mutations', 'and', 'consequences', '.'] | [0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-381 | Splicing defects in the ataxia-telangiectasia gene, ATM:underlying mutations and consequences. | 1 |
['Mutations', 'resulting', 'in', 'defective', 'splicing', 'constitute', 'a', 'significant', 'proportion', '(', '30', '/', '62', '[', '48', '%', ']', ')', 'of', 'a', 'new', 'series', 'of', 'mutations', 'in', 'the', 'ATM', 'gene', 'in', 'patients', 'with', 'ataxia', '-', 'telangiectasia', '(', 'AT', ')', 'that', 'were', 'detected', 'by', 'the', 'protein', '-', 'truncation', 'assay', 'followed', 'by', 'sequence', 'analysis', 'of', 'genomic', 'DNA', '.'] | [0, 0, 0, 0, 0, 0, 0, 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, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-382 | Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation assay followed by sequence analysis of genomic DNA. | 1 |
['Fewer', 'than', 'half', 'of', 'the', 'splicing', 'mutations', 'involved', 'the', 'canonical', 'AG', 'splice', '-', 'acceptor', 'site', 'or', 'GT', 'splice', '-', 'donor', 'site', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-383 | Fewer than half of the splicing mutations involved the canonical AG splice-acceptor site or GT splice-donor site. | 0 |
['A', 'higher', 'percentage', 'of', 'mutations', 'occurred', 'at', 'less', 'stringently', 'conserved', 'sites', ',', 'including', 'silent', 'mutations', 'of', 'the', 'last', 'nucleotide', 'of', 'exons', ',', 'mutations', 'in', 'nucleotides', 'other', 'than', 'the', 'conserved', 'AG', 'and', 'GT', 'in', 'the', 'consensus', 'splice', 'sites', ',', 'and', 'creation', 'of', 'splice', '-', 'acceptor', 'or', 'splice', '-', 'donor', 'sites', 'in', 'either', 'introns', 'or', 'exons', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-384 | A higher percentage of mutations occurred at less stringently conserved sites, including silent mutations of the last nucleotide of exons, mutations in nucleotides other than the conserved AG and GT in the consensus splice sites, and creation of splice-acceptor or splice-donor sites in either introns or exons. | 0 |
['These', 'splicing', 'mutations', 'led', 'to', 'a', 'variety', 'of', 'consequences', ',', 'including', 'exon', 'skipping', 'and', ',', 'to', 'a', 'lesser', 'degree', ',', 'intron', 'retention', ',', 'activation', 'of', 'cryptic', 'splice', 'sites', ',', 'or', 'creation', 'of', 'new', 'splice', 'sites', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-385 | These splicing mutations led to a variety of consequences, including exon skipping and, to a lesser degree, intron retention, activation of cryptic splice sites, or creation of new splice sites. | 0 |
['In', 'addition', ',', '5', 'of', '12', 'nonsense', 'mutations', 'and', '1', 'missense', 'mutation', 'were', 'associated', 'with', 'deletion', 'in', 'the', 'cDNA', 'of', 'the', 'exons', 'in', 'which', 'the', 'mutations', 'occurred', '.'] | [0, 0, 0, 0, 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-386 | In addition, 5 of 12 nonsense mutations and 1 missense mutation were associated with deletion in the cDNA of the exons in which the mutations occurred. | 0 |
['No', 'ATM', 'protein', 'was', 'detected', 'by', 'western', 'blotting', 'in', 'any', 'AT', 'cell', 'line', 'in', 'which', 'splicing', 'mutations', 'were', 'identified', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-387 | No ATM protein was detected by western blotting in any AT cell line in which splicing mutations were identified. | 1 |
['Several', 'cases', 'of', 'exon', 'skipping', 'in', 'both', 'normal', 'controls', 'and', 'patients', 'for', 'whom', 'no', 'underlying', 'defect', 'could', 'be', 'found', 'in', 'genomic', 'DNA', 'were', 'also', 'observed', ',', 'suggesting', 'caution', 'in', 'the', 'interpretation', 'of', 'exon', 'deletions', 'observed', 'in', 'ATM', 'cDNA', 'when', 'there', 'is', 'no', 'accompanying', 'identification', 'of', 'genomic', 'mutations', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-388 | Several cases of exon skipping in both normal controls and patients for whom no underlying defect could be found in genomic DNA were also observed, suggesting caution in the interpretation of exon deletions observed in ATM cDNA when there is no accompanying identification of genomic mutations.. | 0 |
['Alpha', '-', 'cardiac', 'actin', 'is', 'a', 'novel', 'disease', 'gene', 'in', 'familial', 'hypertrophic', 'cardiomyopathy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-389 | Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. | 1 |
['We', 'identified', 'the', 'alpha', '-', 'cardiac', 'actin', 'gene', '(', 'ACTC', ')', 'as', 'a', 'novel', 'disease', 'gene', 'in', 'a', 'pedigree', 'suffering', 'from', 'familial', 'hypertrophic', 'cardiomyopathy', '(', 'FHC', ')', '.'] | [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, 1, 0, 0] | train-390 | We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). | 1 |
['Linkage', 'analyses', 'excluded', 'all', 'the', 'previously', 'reported', 'FHC', 'loci', 'as', 'possible', 'disease', 'loci', 'in', 'the', 'family', 'studied', ',', 'with', 'lod', 'scores', 'varying', 'between', '-', '2', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-391 | Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between-2. | 1 |
['5', 'and', '-', '6', '.'] | [0, 0, 0, 0, 0] | train-392 | 5 and-6. | 0 |
['0', '0', '.'] | [0, 0, 0] | train-393 | 0 0. | 0 |
['Further', 'linkage', 'analyses', 'of', 'plausible', 'candidate', 'genes', 'highly', 'expressed', 'in', 'the', 'adult', 'human', 'heart', 'identified', 'ACTC', 'as', 'the', 'most', 'likely', 'disease', 'gene', ',', 'showing', 'a', 'maximal', 'lod', 'score', 'of', '3', '.'] | [0, 0, 0, 0, 0, 0, 0, 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-394 | Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3. | 0 |
['6', '6', '.'] | [0, 0, 0] | train-395 | 6 6. | 0 |
['Mutation', 'analysis', 'of', 'ACTC', 'revealed', 'an', 'Ala295Ser', 'mutation', 'in', 'exon', '5', 'close', 'to', '2', 'missense', 'mutations', 'recently', 'described', 'to', 'cause', 'the', 'inherited', 'form', 'of', 'idiopathic', 'dilated', 'cardiomyopathy', '(', 'IDC', ')', '.'] | [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, 1, 0, 0] | train-396 | Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). | 1 |
['Overgrowth', 'of', 'oral', 'mucosa', 'and', 'facial', 'skin', ',', 'a', 'novel', 'feature', 'of', 'aspartylglucosaminuria', '.'] | [1, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 1, 0] | train-397 | Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. | 1 |
['Aspartylglucosaminuria', '(', 'AGU', ')', 'is', 'a', 'lysosomal', 'storage', 'disorder', 'caused', 'by', 'deficiency', 'of', 'aspartylglucosaminidase', '(', 'AGA', ')', '.'] | [1, 0, 1, 0, 0, 0, 1, 2, 2, 0, 0, 1, 2, 2, 0, 0, 0, 0] | train-398 | Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by deficiency of aspartylglucosaminidase (AGA). | 1 |
['The', 'main', 'symptom', 'is', 'progressive', 'mental', 'retardation', '.'] | [0, 0, 0, 0, 0, 1, 2, 0] | train-399 | The main symptom is progressive mental retardation. | 1 |
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