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['The', 'positive', 'control', 'for', 'DMT1', 'up', '-', 'regulation', 'was', 'a', 'murine', 'model', 'of', 'dietary', 'iron', 'deficiency', 'that', 'demonstrated', 'greatly', 'increased', 'levels', 'of', 'duodenal', 'DMT1', '(', 'IRE', ')', 'mRNA', '.'] | [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-100 | The positive control for DMT1 up-regulation was a murine model of dietary iron deficiency that demonstrated greatly increased levels of duodenal DMT1 (IRE) mRNA. | 1 |
['HFE', '-', '/', '-', 'mice', 'also', 'demonstrated', 'an', 'increase', 'in', 'duodenal', 'DMT1', '(', 'IRE', ')', 'mRNA', '(', 'average', '7', '.', '7', '-', 'fold', ')', ',', 'despite', 'their', 'elevated', 'transferrin', 'saturation', 'and', 'hepatic', 'iron', 'content', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-101 | HFE-/-mice also demonstrated an increase in duodenal DMT1 (IRE) mRNA (average 7. 7-fold), despite their elevated transferrin saturation and hepatic iron content. | 0 |
['Duodenal', 'expression', 'of', 'DMT1', '(', 'non', '-', 'IRE', ')', 'was', 'not', 'increased', ',', 'nor', 'was', 'hepatic', 'expression', 'of', 'DMT1', 'increased', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-102 | Duodenal expression of DMT1 (non-IRE) was not increased, nor was hepatic expression of DMT1 increased. | 0 |
['These', 'data', 'support', 'the', 'model', 'for', 'HH', 'in', 'which', 'HFE', 'mutations', 'lead', 'to', 'inappropriately', 'low', 'crypt', 'cell', 'iron', ',', 'with', 'resultant', 'stabilization', 'of', 'DMT1', '(', 'IRE', ')', 'mRNA', ',', 'up', '-', 'regulation', 'of', 'DMT1', ',', 'and', 'increased', 'absorption', 'of', 'dietary', 'iron', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-103 | These data support the model for HH in which HFE mutations lead to inappropriately low crypt cell iron, with resultant stabilization of DMT1 (IRE) mRNA, up-regulation of DMT1, and increased absorption of dietary iron. | 0 |
['Neurophysiologic', 'follow', '-', 'up', 'of', 'long', '-', 'term', 'dietary', 'treatment', 'in', 'adult', '-', 'onset', 'adrenoleukodystrophy', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-104 | Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy. | 1 |
['OBJECTIVE', 'To', 'monitor', 'the', 'effects', 'of', 'dietary', 'treatment', 'in', 'adult', '-', 'onset', 'adrenoleukodystrophy', '(', 'ALD', ')', 'by', 'means', 'of', 'somatosensory', 'evoked', 'potentials', '(', 'SEPs', ')', 'and', 'motor', 'evoked', 'potentials', '(', 'MEPs', ')', '.'] | [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] | train-105 | OBJECTIVE To monitor the effects of dietary treatment in adult-onset adrenoleukodystrophy (ALD) by means of somatosensory evoked potentials (SEPs) and motor evoked potentials (MEPs). | 1 |
['BACKGROUND', 'SEPs', 'and', 'MEPs', 'have', 'proved', 'useful', 'in', 'revealing', 'signs', 'of', 'progressively', 'severe', ',', 'central', 'dying', '-', 'back', 'axonopathy', 'in', 'early', 'stages', 'of', 'adult', '-', 'onset', 'ALD', '.'] | [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, 1, 0] | train-106 | BACKGROUND SEPs and MEPs have proved useful in revealing signs of progressively severe, central dying-back axonopathy in early stages of adult-onset ALD. | 1 |
['METHODS', 'Eight', 'patients', 'with', 'adult', '-', 'onset', 'ALD', 'underwent', 'clinical', 'examination', ',', 'brain', 'and', 'spine', 'MRI', ',', 'and', 'SEP', 'and', 'MEP', 'studies', 'before', 'and', 'after', '3', 'years', 'of', 'Lorenzos', 'oil', 'dietary', 'therapy', '.'] | [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] | train-107 | METHODS Eight patients with adult-onset ALD underwent clinical examination, brain and spine MRI, and SEP and MEP studies before and after 3 years of Lorenzos oil dietary therapy. | 1 |
['RESULTS', 'Before', 'treatment', ',', 'brain', 'MRI', 'was', 'normal', 'in', 'five', 'patients', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-108 | RESULTS Before treatment, brain MRI was normal in five patients. | 0 |
['Three', 'of', 'these', 'patients', 'had', 'pure', 'spinal', 'SEP', 'abnormalities', 'and', 'in', 'the', 'remaining', 'two', 'patients', 'SEPs', 'showed', 'signs', 'of', 'involvement', 'of', 'both', 'the', 'spinal', 'and', 'cerebral', 'somatosensory', 'tracts', '.'] | [0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-109 | Three of these patients had pure spinal SEP abnormalities and in the remaining two patients SEPs showed signs of involvement of both the spinal and cerebral somatosensory tracts. | 1 |
['After', 'treatment', ',', 'the', 'three', 'patients', 'with', 'pure', 'spinal', 'abnormalities', 'showed', 'clinical', 'and', 'neurophysiologic', 'worsening', ',', 'whereas', 'the', 'two', 'patients', 'with', 'a', 'more', 'advanced', 'stage', 'of', 'disease', '(', 'exhibited', 'by', 'SEPs', ')', 'showed', 'substantially', 'unchanged', 'clinical', 'and', 'neurophysiologic', 'features', '.'] | [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] | train-110 | After treatment, the three patients with pure spinal abnormalities showed clinical and neurophysiologic worsening, whereas the two patients with a more advanced stage of disease (exhibited by SEPs) showed substantially unchanged clinical and neurophysiologic features. | 1 |
['The', 'patients', 'with', 'abnormal', 'brain', 'MRI', 'at', 'the', 'onset', 'of', 'treatment', 'showed', 'clinical', 'and', 'neurophysiologic', 'worsening', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-111 | The patients with abnormal brain MRI at the onset of treatment showed clinical and neurophysiologic worsening. | 0 |
['CONCLUSIONS', 'Lorenzos', 'oil', 'therapy', 'had', 'no', 'effect', 'on', 'patients', 'with', 'evidence', 'of', 'inflammatory', 'brain', 'lesions', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0] | train-112 | CONCLUSIONS Lorenzos oil therapy had no effect on patients with evidence of inflammatory brain lesions. | 1 |
['Moreover', ',', 'in', 'patients', 'without', 'clear', 'signs', 'of', 'inflammatory', 'damage', ',', 'this', 'treatment', 'does', 'not', 'modify', 'significantly', 'the', 'natural', 'course', 'of', 'the', 'disease', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-113 | Moreover, in patients without clear signs of inflammatory damage, this treatment does not modify significantly the natural course of the disease. | 0 |
['However', ',', 'because', 'effective', 'treatments', 'should', 'begin', 'before', 'the', 'onset', 'of', 'severe', 'neurologic', 'symptoms', ',', 'SEPs', 'and', 'MEPs', 'should', 'be', 'considered', 'to', 'evaluate', 'the', 'effectiveness', 'of', 'other', 'experimental', 'treatments', 'in', 'the', 'patient', 'with', 'a', 'negative', 'brain', 'MRI', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-114 | However, because effective treatments should begin before the onset of severe neurologic symptoms, SEPs and MEPs should be considered to evaluate the effectiveness of other experimental treatments in the patient with a negative brain MRI. | 0 |
['GCH1', 'mutation', 'in', 'a', 'patient', 'with', 'adult', '-', 'onset', 'oromandibular', 'dystonia', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | train-115 | GCH1 mutation in a patient with adult-onset oromandibular dystonia. | 1 |
['The', 'authors', 'report', 'a', 'mutation', 'in', 'exon', '5', 'of', 'GCH1', 'in', 'a', 'patient', 'with', 'adult', '-', 'onset', 'oromandibular', 'dystonia', 'and', 'no', 'obvious', 'family', 'history', 'of', 'dystonia', '.'] | [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, 1, 0] | train-116 | The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia. | 1 |
['The', 'patient', 'responded', 'positively', 'to', 'treatment', 'with', 'L', '-', 'dopa', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-117 | The patient responded positively to treatment with L-dopa. | 0 |
['These', 'findings', 'demonstrate', 'that', 'GCH1', 'mutations', 'must', 'be', 'considered', 'even', 'in', 'patients', 'with', 'dystonic', 'symptoms', 'not', 'typical', 'of', 'dopa', '-', 'responsive', 'dystonia', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 2, 2, 2, 0] | train-118 | These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia. | 1 |
['Germline', 'mutations', 'of', 'the', 'APC', 'gene', 'in', 'Korean', 'familial', 'adenomatous', 'polyposis', 'patients', '.'] | [0, 0, 0, 0, 1, 0, 0, 0, 1, 2, 2, 0, 0] | train-119 | Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. | 1 |
['We', 'extensively', 'analyzed', 'genomic', 'DNA', 'and', 'messenger', 'RNA', '(', 'mRNA', ')', 'from', '62', 'unrelated', 'Korean', 'patients', 'with', 'familial', 'adenomatous', 'polyposis', '(', 'FAP', ')', 'for', 'identification', 'of', 'germline', 'adenomatous', 'polyposis', 'coli', '(', 'APC', ')', 'gene', 'mutations', '.'] | [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, 1, 2, 2, 0, 1, 0, 0, 0, 0] | train-120 | We extensively analyzed genomic DNA and messenger RNA (mRNA) from 62 unrelated Korean patients with familial adenomatous polyposis (FAP) for identification of germline adenomatous polyposis coli (APC) gene mutations. | 1 |
['We', 'adopted', 'both', 'single', '-', 'strand', 'conformation', 'polymorphism', '(', 'SSCP', ')', 'analysis', 'and', 'a', 'method', 'of', 'analysis', 'involving', 'the', 'reverse', 'transcription', '-', 'polymerase', 'chain', 'reaction', '(', 'RT', '-', 'PCR', ')', 'followed', 'by', 'a', 'protein', 'truncation', 'test', '(', 'PTT', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-121 | We adopted both single-strand conformation polymorphism (SSCP) analysis and a method of analysis involving the reverse transcription-polymerase chain reaction (RT-PCR) followed by a protein truncation test (PTT). | 0 |
['DNA', 'sequencing', 'confirmed', 'all', 'alterations', 'represented', 'by', 'aberrant', 'bands', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-122 | DNA sequencing confirmed all alterations represented by aberrant bands. | 0 |
['Germline', 'mutations', 'were', 'identified', 'in', '38', 'patients', '(', '61', '%', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-123 | Germline mutations were identified in 38 patients (61%). | 0 |
['Nineteen', 'of', 'the', 'detected', 'mutations', 'were', 'presumed', 'to', 'be', 'novel', ',', 'thus', 'emphasizing', 'the', 'heterogeneity', 'of', 'the', 'mutational', 'spectrum', 'in', 'Korean', 'FAP', 'patients', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0] | train-124 | Nineteen of the detected mutations were presumed to be novel, thus emphasizing the heterogeneity of the mutational spectrum in Korean FAP patients. | 1 |
['In', 'the', 'initial', '48', 'patients', ',', 'SSCP', 'analysis', 'was', 'followed', 'by', 'PTT', 'for', 'those', 'patients', 'for', 'whom', 'no', 'detectable', 'mutations', 'were', 'found', 'by', 'SSCP', '.'] | [0, 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-125 | In the initial 48 patients, SSCP analysis was followed by PTT for those patients for whom no detectable mutations were found by SSCP. | 0 |
['Using', 'this', 'combined', 'approach', ',', 'we', 'identified', 'germline', 'APC', 'gene', 'mutations', 'in', '29', 'of', 'the', '48', 'FAP', 'patients', '(', '60', '%', ')', ',', 'including', '6', 'patients', 'in', 'whom', 'SSCP', 'analysis', 'failed', 'to', 'distinguish', 'the', 'mutant', 'allele', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 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] | train-126 | Using this combined approach, we identified germline APC gene mutations in 29 of the 48 FAP patients (60%), including 6 patients in whom SSCP analysis failed to distinguish the mutant allele. | 1 |
['In', 'the', '14', 'later', 'patients', ',', 'we', 'identified', 'truncating', 'mutations', 'in', '9', 'patients', '(', '64', '%', ')', 'using', 'PTT', 'only', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-127 | In the 14 later patients, we identified truncating mutations in 9 patients (64%) using PTT only. | 0 |
['Our', 'results', 'confirm', 'that', 'the', 'mutation', 'detection', 'rate', 'with', 'PTT', 'was', 'superior', 'to', 'that', 'with', 'SSCP', ',', 'and', 'suggest', 'that', 'PTT', 'would', 'be', 'a', 'more', 'practical', 'screening', 'method', 'to', 'detect', 'germline', 'mutations', 'of', 'the', 'APC', 'gene', 'in', 'FAP', 'patients', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0] | train-128 | Our results confirm that the mutation detection rate with PTT was superior to that with SSCP, and suggest that PTT would be a more practical screening method to detect germline mutations of the APC gene in FAP patients. | 1 |
['Molecular', 'epidemiology', 'of', 'C9', 'deficiency', 'heterozygotes', 'with', 'an', 'Arg95Stop', 'mutation', 'of', 'the', 'C9', 'gene', 'in', 'Japan', '.'] | [0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-129 | Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan. | 1 |
['Deficiency', 'of', 'the', 'ninth', 'component', 'of', 'human', 'complement', '(', 'C9', ')', 'is', 'the', 'most', 'common', 'complement', 'deficiency', 'in', 'Japan', ',', 'with', 'an', 'incidence', 'of', 'approximately', 'one', 'homozygote', 'in', '1000', ',', 'but', 'is', 'very', 'rare', 'in', 'other', 'countries', '.'] | [1, 2, 2, 2, 2, 2, 2, 2, 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] | train-130 | Deficiency of the ninth component of human complement (C9) is the most common complement deficiency in Japan, with an incidence of approximately one homozygote in 1000, but is very rare in other countries. | 1 |
['Genetic', 'analyses', 'of', 'Japanese', 'C9', 'deficiency', 'have', 'shown', 'that', 'a', 'C', '-', 'to', '-', 'T', 'transition', 'leading', 'to', 'TGA', 'stop', 'codon', 'for', 'Arg95', 'in', 'exon', '4', 'of', 'the', 'C9', 'gene', '(', 'Arg95Stop', ')', 'is', 'common', 'in', 'Japanese', 'C9', 'deficiency', '.'] | [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, 1, 2, 0] | train-131 | Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency. | 1 |
['To', 'determine', 'the', 'prevalence', 'of', 'heterozygous', 'carriers', 'of', 'the', 'Arg95Stop', 'mutation', 'in', 'a', 'Japanese', 'population', ',', 'we', 'collected', 'DNA', 'samples', 'from', '300', 'individuals', 'in', 'two', 'of', 'the', 'four', 'main', 'islands', 'of', 'Japan', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 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-132 | To determine the prevalence of heterozygous carriers of the Arg95Stop mutation in a Japanese population, we collected DNA samples from 300 individuals in two of the four main islands of Japan. | 0 |
['Heterozygote', 'detection', 'was', 'performed', 'with', 'an', 'allele', '-', 'specific', 'polymerase', 'chain', 'reaction', '(', 'PCR', ')', 'system', 'designed', 'to', 'detect', 'exclusively', 'only', 'one', 'of', 'the', 'normal', 'and', 'mutant', 'alleles', ',', 'followed', 'by', 'confirmation', 'with', 'PCR', '/', 'single', '-', 'strand', 'conformation', 'polymorphism', '(', 'SSCP', ')', 'analysis', 'and', 'direct', 'sequencing', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-133 | Heterozygote detection was performed with an allele-specific polymerase chain reaction (PCR) system designed to detect exclusively only one of the normal and mutant alleles, followed by confirmation with PCR/single-strand conformation polymorphism (SSCP) analysis and direct sequencing. | 0 |
['Twenty', 'individuals', 'were', 'heterozygous', 'for', 'the', 'Arg95Stop', 'mutation', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | train-134 | Twenty individuals were heterozygous for the Arg95Stop mutation. | 0 |
['None', 'was', 'homozygous', '.'] | [0, 0, 0, 0] | train-135 | None was homozygous. | 0 |
['The', 'prevalence', 'of', 'carriers', 'of', 'the', 'Arg95Stop', 'mutation', 'was', '6', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-136 | The prevalence of carriers of the Arg95Stop mutation was 6. | 0 |
['7', '%', '(', '20', '/', '300', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0] | train-137 | 7% (20/300). | 0 |
['An', 'estimated', 'frequency', '(', '0', '.', '12', '%', ')', 'of', 'complete', 'C9', 'deficiency', 'due', 'to', 'homozygous', 'Arg95Stop', 'mutation', 'was', 'consistent', 'with', 'frequencies', 'determined', 'by', 'serological', 'studies'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-138 | An estimated frequency (0. 12%) of complete C9 deficiency due to homozygous Arg95Stop mutation was consistent with frequencies determined by serological studies | 1 |
['The', 'hereditary', 'hemochromatosis', 'protein', ',', 'HFE', ',', 'specifically', 'regulates', 'transferrin', '-', 'mediated', 'iron', 'uptake', 'in', 'HeLa', 'cells', '.'] | [0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-139 | The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. | 1 |
['HFE', 'is', 'the', 'protein', 'product', 'of', 'the', 'gene', 'mutated', 'in', 'the', 'autosomal', 'recessive', 'disease', 'hereditary', 'hemochromatosis', '(', 'Feder', ',', 'J', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 1, 2, 0, 0, 0, 0, 0] | train-140 | HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. | 1 |
['N', '.', ',', 'Gnirke', ',', 'A', '.', ',', 'Thomas', ',', 'W', '.', ',', 'Tsuchihashi', ',', 'Z', '.', ',', 'Ruddy', ',', 'D', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-141 | N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. | 0 |
['A', '.', ',', 'Basava', ',', 'A', '.', ',', 'Dormishian', ',', 'F', '.', ',', 'Domingo', ',', 'R', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-142 | A., Basava, A., Dormishian, F., Domingo, R. | 0 |
['J', '.', ',', 'Ellis', ',', 'M', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-143 | J., Ellis, M. | 0 |
['C', '.', ',', 'Fullan', ',', 'A', '.', ',', 'Hinton', ',', 'L', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-144 | C., Fullan, A., Hinton, L. | 0 |
['M', '.', ',', 'Jones', ',', 'N', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-145 | M., Jones, N. | 0 |
['L', '.', ',', 'Kimmel', ',', 'B', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-146 | L., Kimmel, B. | 0 |
['E', '.', ',', 'Kronmal', ',', 'G', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-147 | E., Kronmal, G. | 0 |
['S', '.', ',', 'Lauer', ',', 'P', '.', ',', 'Lee', ',', 'V', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-148 | S., Lauer, P., Lee, V. | 0 |
['K', '.', ',', 'Loeb', ',', 'D', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-149 | K., Loeb, D. | 0 |
['B', '.', ',', 'Mapa', ',', 'F', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-150 | B., Mapa, F. | 0 |
['A', '.', ',', 'McClelland', ',', 'E', '.', ',', 'Meyer', ',', 'N', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-151 | A., McClelland, E., Meyer, N. | 0 |
['C', '.', ',', 'Mintier', ',', 'G', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-152 | C., Mintier, G. | 0 |
['A', '.', ',', 'Moeller', ',', 'N', '.', ',', 'Moore', ',', 'T', '.', ',', 'Morikang', ',', 'E', '.', ',', 'Prasss', ',', 'C', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-153 | A., Moeller, N., Moore, T., Morikang, E., Prasss, C. | 0 |
['E', '.', ',', 'Quintana', ',', 'L', '.', ',', 'Starnes', ',', 'S', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-154 | E., Quintana, L., Starnes, S. | 0 |
['M', '.', ',', 'Schatzman', ',', 'R', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-155 | M., Schatzman, R. | 0 |
['C', '.', ',', 'Brunke', ',', 'K', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-156 | C., Brunke, K. | 0 |
['J', '.', ',', 'Drayna', ',', 'D', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-157 | J., Drayna, D. | 0 |
['T', '.', ',', 'Risch', ',', 'N', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-158 | T., Risch, N. | 0 |
['J', '.', ',', 'Bacon', ',', 'B', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-159 | J., Bacon, B. | 0 |
['R', '.', ',', 'and', 'Wolff', ',', 'R', '.'] | [0, 0, 0, 0, 0, 0, 0, 0] | train-160 | R., and Wolff, R. | 0 |
['R', '.'] | [0, 0] | train-161 | R. | 0 |
['(', '1996', ')', 'Nat', '.'] | [0, 0, 0, 0, 0] | train-162 | (1996) Nat. | 0 |
['Genet', '.'] | [0, 0] | train-163 | Genet. | 0 |
['13', ',', '399', '-', '408', ')', '.'] | [0, 0, 0, 0, 0, 0, 0] | train-164 | 13, 399-408). | 0 |
['At', 'the', 'cell', 'surface', ',', 'HFE', 'complexes', 'with', 'transferrin', 'receptor', '(', 'TfR', ')', ',', 'increasing', 'the', 'dissociation', 'constant', 'of', 'transferrin', '(', 'Tf', ')', 'for', 'its', 'receptor', '10', '-', 'fold', '(', 'Gross', ',', '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] | train-165 | At the cell surface, HFE complexes with transferrin receptor (TfR), increasing the dissociation constant of transferrin (Tf) for its receptor 10-fold (Gross, C. | 0 |
['N', '.', ',', 'Irrinki', ',', 'A', '.', ',', 'Feder', ',', 'J', '.', 'N', '.', ',', 'and', 'Enns', ',', 'C', '.', 'A', '.', '(', '1998', ')', 'J', '.', 'Biol', '.', 'Chem', '.', '273', ',', '22068', '-', '22074', ';', 'Feder', ',', 'J', '.', 'N', '.', ',', 'Penny', ',', 'D', '.', 'M', '.', ',', 'Irrinki', ',', 'A', '.', ',', 'Lee', ',', 'V', '.', 'K', '.', ',', 'Lebron', ',', 'J', '.', 'A', '.', ',', 'Watson', ',', 'N', '.', ',', 'Tsuchihashi', ',', 'Z', '.', ',', 'Sigal', ',', 'E', '.', ',', 'Bjorkman', ',', 'P', '.', 'J', '.', ',', 'and', 'Schatzman', ',', 'R', '.', 'C', '.', '(', '1998', ')', 'Proc', '.', 'Natl', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-166 | N., Irrinki, A., Feder, J. N., and Enns, C. A. (1998) J. Biol. Chem. 273, 22068-22074;Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebron, J. A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., and Schatzman, R. C. (1998) Proc. Natl. | 0 |
['Acad', '.'] | [0, 0] | train-167 | Acad. | 0 |
['Sci', '.'] | [0, 0] | train-168 | Sci. | 0 |
['U', 'S', 'A', '95', ',', '1472', '-', '1477', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-169 | U S A 95, 1472-1477). | 0 |
['HFE', 'does', 'not', 'remain', 'at', 'the', 'cell', 'surface', ',', 'but', 'traffics', 'with', 'TfR', 'to', 'Tf', '-', 'positive', 'internal', 'compartments', '(', 'Gross', 'et', 'al', '.', ',', '1998', ')', '.'] | [0, 0, 0, 0, 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-170 | HFE does not remain at the cell surface, but traffics with TfR to Tf-positive internal compartments (Gross et al., 1998). | 0 |
['Using', 'a', 'HeLa', 'cell', 'line', 'in', 'which', 'the', 'expression', 'of', 'HFE', 'is', 'controlled', 'by', 'tetracycline', ',', 'we', 'show', 'that', 'the', 'expression', 'of', 'HFE', 'reduces', '55Fe', 'uptake', 'from', 'Tf', 'by', '33', '%', 'but', 'does', 'not', 'affect', 'the', 'endocytic', 'or', 'exocytic', 'rates', 'of', 'TfR', 'cycling', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-171 | Using a HeLa cell line in which the expression of HFE is controlled by tetracycline, we show that the expression of HFE reduces 55Fe uptake from Tf by 33% but does not affect the endocytic or exocytic rates of TfR cycling. | 0 |
['Therefore', ',', 'HFE', 'appears', 'to', 'reduce', 'cellular', 'acquisition', 'of', 'iron', 'from', 'Tf', 'within', 'endocytic', 'compartments', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-172 | Therefore, HFE appears to reduce cellular acquisition of iron from Tf within endocytic compartments. | 0 |
['HFE', 'specifically', 'reduces', 'iron', 'uptake', 'from', 'Tf', ',', 'as', 'non', '-', 'Tf', '-', 'mediated', 'iron', 'uptake', 'from', 'Fe', '-', 'nitrilotriacetic', 'acid', 'is', 'not', 'altered', '.'] | [0, 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-173 | HFE specifically reduces iron uptake from Tf, as non-Tf-mediated iron uptake from Fe-nitrilotriacetic acid is not altered. | 0 |
['These', 'results', 'explain', 'the', 'decreased', 'ferritin', 'levels', 'seen', 'in', 'our', 'HeLa', 'cell', 'system', 'and', 'demonstrate', 'the', 'specific', 'control', 'of', 'HFE', 'over', 'the', 'Tf', '-', 'mediated', 'pathway', 'of', 'iron', 'uptake', '.'] | [0, 0, 0, 0, 0, 0, 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-174 | These results explain the decreased ferritin levels seen in our HeLa cell system and demonstrate the specific control of HFE over the Tf-mediated pathway of iron uptake. | 0 |
['These', 'results', 'also', 'have', 'implications', 'for', 'the', 'understanding', 'of', 'cellular', 'iron', 'homeostasis', 'in', 'organs', 'such', 'as', 'the', 'liver', ',', 'pancreas', ',', 'heart', ',', 'and', 'spleen', 'that', 'are', 'iron', 'loaded', 'in', 'hereditary', 'hemochromatotic', 'individuals', 'lacking', 'functional', 'HFE', '.'] | [0, 0, 0, 0, 0, 0, 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] | train-175 | These results also have implications for the understanding of cellular iron homeostasis in organs such as the liver, pancreas, heart, and spleen that are iron loaded in hereditary hemochromatotic individuals lacking functional HFE. | 1 |
['Mutation', 'and', 'haplotype', 'studies', 'of', 'familial', 'Mediterranean', 'fever', 'reveal', 'new', 'ancestral', 'relationships', 'and', 'evidence', 'for', 'a', 'high', 'carrier', 'frequency', 'with', 'reduced', 'penetrance', 'in', 'the', 'Ashkenazi', 'Jewish', 'population', '.'] | [0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-176 | Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. | 1 |
['Familial', 'Mediterranean', 'fever', '(', 'FMF', ')', 'is', 'a', 'recessive', 'disorder', 'characterized', 'by', 'episodes', 'of', 'fever', 'with', 'serositis', 'or', 'synovitis', '.'] | [1, 2, 2, 0, 1, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0] | train-177 | Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. | 1 |
['The', 'FMF', 'gene', '(', 'MEFV', ')', 'was', 'cloned', 'recently', ',', 'and', 'four', 'missense', 'mutations', 'were', 'identified', '.'] | [0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-178 | The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. | 1 |
['Here', 'we', 'present', 'data', 'from', 'non', '-', 'Ashkenazi', 'Jewish', 'and', 'Arab', 'patients', 'in', 'whom', 'we', 'had', 'not', 'originally', 'found', 'mutations', 'and', 'from', 'a', 'new', ',', 'more', 'ethnically', 'diverse', 'panel', '.'] | [0, 0, 0, 0, 0, 0, 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-179 | Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel. | 0 |
['Among', '90', 'symptomatic', 'mutation', '-', 'positive', 'individuals', ',', '11', 'mutations', 'accounted', 'for', '79', '%', 'of', 'carrier', 'chromosomes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-180 | Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes. | 0 |
['Of', 'the', 'two', 'mutations', 'that', 'are', 'novel', ',', 'one', 'alters', 'the', 'same', 'residue', '(', '680', ')', 'as', 'a', 'previously', 'known', 'mutation', ',', 'and', 'the', 'other', '(', 'P369S', ')', 'is', 'located', 'in', 'exon', '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, 0, 0, 0] | train-181 | Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3. | 0 |
['Consistent', 'with', 'another', 'recent', 'report', ',', 'the', 'E148Q', 'mutation', 'was', 'observed', 'in', 'patients', 'of', 'several', 'ethnicities', 'and', 'on', 'multiple', 'microsatellite', 'haplotypes', ',', 'but', 'haplotype', 'data', 'indicate', 'an', 'ancestral', 'relationships', 'between', 'non', '-', 'Jewish', 'Italian', 'and', 'Ashkenazi', 'Jewish', 'patients', 'with', 'FMF', 'and', 'other', 'affected', 'populations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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] | train-182 | Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations. | 1 |
['Among', 'approximately', '200', 'anonymous', 'Ashkenazi', 'Jewish', 'DNA', 'samples', ',', 'the', 'MEFV', 'carrier', 'frequency', 'was', '21', '%', ',', 'with', 'E148Q', 'the', 'most', 'common', '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] | train-183 | Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation. | 0 |
['Several', 'lines', 'of', 'evidence', 'indicate', 'reduced', 'penetrance', 'among', 'Ashkenazi', 'Jews', ',', 'especially', 'for', 'E148Q', ',', 'P369S', ',', 'and', 'K695R', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-184 | Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R. | 0 |
['Nevertheless', ',', 'E148Q', 'helps', 'account', 'for', 'recessive', 'inheritance', 'in', 'an', 'Ashkenazi', 'family', 'previously', 'reported', 'as', 'an', 'unusual', 'case', 'of', 'dominantly', 'inherited', 'FMF', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-185 | Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF. | 1 |
['The', 'presence', 'of', 'three', 'frequent', 'MEFV', 'mutations', 'in', 'multiple', 'Mediterranean', 'populations', 'strongly', 'suggests', 'a', 'heterozygote', 'advantage', 'in', 'this', 'geographic', 'region', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-186 | The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region. | 0 |
['Autoimmune', 'lymphoproliferative', 'syndrome', 'with', 'defective', 'Fas', ':', 'genotype', 'influences', 'penetrance', '.'] | [1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0] | train-187 | Autoimmune lymphoproliferative syndrome with defective Fas:genotype influences penetrance. | 1 |
['Autoimmune', 'lymphoproliferative', 'syndrome', '(', 'ALPS', ')', 'is', 'a', 'disorder', 'of', 'lymphocyte', 'homeostasis', 'and', 'immunological', 'tolerance', '.'] | [1, 2, 2, 0, 1, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0] | train-188 | Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance. | 1 |
['Most', 'patients', 'have', 'a', 'heterozygous', 'mutation', 'in', 'the', 'APT1', 'gene', ',', 'which', 'encodes', 'Fas', '(', 'CD95', ',', 'APO', '-', '1', ')', ',', 'mediator', 'of', 'an', 'apoptotic', 'pathway', 'crucial', 'to', 'lymphocyte', 'homeostasis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 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-189 | Most patients have a heterozygous mutation in the APT1 gene, which encodes Fas (CD95, APO-1), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. | 0 |
['Of', '17', 'unique', 'APT1', 'mutations', 'in', 'unrelated', 'ALPS', 'probands', ',', '12', '(', '71', '%', ')', 'occurred', 'in', 'exons', '7', '-', '9', ',', 'which', 'encode', 'the', 'intracellular', 'portion', 'of', 'Fas', '.'] | [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] | train-190 | Of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7-9, which encode the intracellular portion of Fas. | 1 |
['In', 'vitro', ',', 'activated', 'lymphocytes', 'from', 'all', '17', 'patients', 'showed', 'apoptotic', 'defects', 'when', 'exposed', 'to', 'an', 'anti', '-', 'Fas', 'agonist', 'monoclonal', 'antibody', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-191 | In vitro, activated lymphocytes from all 17 patients showed apoptotic defects when exposed to an anti-Fas agonist monoclonal antibody. | 0 |
['Similar', 'defects', 'were', 'found', 'in', 'a', 'Fas', '-', 'negative', 'cell', 'line', 'transfected', 'with', 'cDNAs', 'bearing', 'each', 'of', 'the', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-192 | Similar defects were found in a Fas-negative cell line transfected with cDNAs bearing each of the mutations. | 0 |
['In', 'cotransfection', 'experiments', ',', 'Fas', 'constructs', 'with', 'either', 'intra', '-', 'or', 'extracellular', 'mutations', 'caused', 'dominant', 'inhibition', 'of', 'apoptosis', 'mediated', 'by', 'wild', '-', 'type', 'Fas', '.'] | [0, 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-193 | In cotransfection experiments, Fas constructs with either intra-or extracellular mutations caused dominant inhibition of apoptosis mediated by wild-type Fas. | 0 |
['Two', 'missense', 'Fas', 'variants', ',', 'not', 'restricted', 'to', 'patients', 'with', 'ALPS', ',', 'were', 'identified', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0] | train-194 | Two missense Fas variants, not restricted to patients with ALPS, were identified. | 1 |
['Variant', 'A', '(', '-', '1', ')', 'T', 'at', 'the', 'Fas', 'signal', '-', 'sequence', 'cleavage', 'site', ',', 'which', 'mediates', 'apoptosis', 'less', 'well', 'than', 'wild', '-', 'type', 'Fas', 'and', 'is', 'partially', 'inhibitory', ',', 'was', 'present', 'in', '13', '%', 'of', 'African', 'American', 'alleles', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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-195 | Variant A (- 1) T at the Fas signal-sequence cleavage site, which mediates apoptosis less well than wild-type Fas and is partially inhibitory, was present in 13% of African American alleles. | 0 |
['Among', 'the', 'ALPS', '-', 'associated', 'Fas', 'mutants', ',', 'dominant', 'inhibition', 'of', 'apoptosis', 'was', 'much', 'more', 'pronounced', 'in', 'mutants', 'affecting', 'the', 'intracellular', ',', 'versus', 'extracellular', ',', 'portion', 'of', 'the', 'Fas', 'receptor', '.'] | [0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | train-196 | Among the ALPS-associated Fas mutants, dominant inhibition of apoptosis was much more pronounced in mutants affecting the intracellular, versus extracellular, portion of the Fas receptor. | 1 |
['Mutations', 'causing', 'disruption', 'of', 'the', 'intracellular', 'Fas', 'death', 'domain', 'also', 'showed', 'a', 'higher', 'penetrance', 'of', 'ALPS', 'phenotype', 'features', 'in', 'mutation', '-', 'bearing', 'relatives', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0] | train-197 | Mutations causing disruption of the intracellular Fas death domain also showed a higher penetrance of ALPS phenotype features in mutation-bearing relatives. | 1 |
['Significant', 'ALPS', '-', 'related', 'morbidity', 'occurred', 'in', '44', '%', 'of', 'relatives', 'with', 'intracellular', 'mutations', ',', 'versus', '0', '%', 'of', 'relatives', 'with', 'extracellular', 'mutations', '.'] | [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-198 | Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations. | 1 |
['Thus', ',', 'the', 'location', 'of', 'mutations', 'within', 'APT1', 'strongly', 'influences', 'the', 'development', 'and', 'the', 'severity', 'of', 'ALPS', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | train-199 | Thus, the location of mutations within APT1 strongly influences the development and the severity of ALPS. | 1 |
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