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['These', 'findings', 'strongly', 'implicate', 'TSG101', 'mutations', 'in', 'human', 'breast', 'cancer'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2] | validation-667 | These findings strongly implicate TSG101 mutations in human breast cancer | 1 |
['Moderate', 'intergenerational', 'and', 'somatic', 'instability', 'of', 'a', '55', '-', 'CTG', 'repeat', 'in', 'transgenic', 'mice', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-668 | Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. | 0 |
['Myotonic', 'dystrophy', '(', 'DM', ')', 'is', 'associated', 'with', 'the', 'expansion', 'of', 'a', '(', 'CTG', ')', 'n', 'trinucleotide', 'repeat', 'in', 'the', '3', 'untranslated', 'region', '(', 'UTR', ')', 'of', 'the', 'DM', 'protein', 'kinase', 'gene', '(', 'DMPK', ')', '.'] | [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, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0] | validation-669 | Myotonic dystrophy (DM) is associated with the expansion of a (CTG) n trinucleotide repeat in the 3 untranslated region (UTR) of the DM protein kinase gene (DMPK). | 1 |
['The', '(', 'CTG', ')', 'n', 'repeat', 'is', 'polymorphic', 'and', 'varies', 'in', 'size', 'between', '5', 'and', '37', 'repeats', 'in', 'unaffected', 'individuals', 'whereas', 'in', 'affected', 'patients', 'there', 'are', 'between', '50', 'and', '4', ',', '000', 'CTGs', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-670 | The (CTG) n repeat is polymorphic and varies in size between 5 and 37 repeats in unaffected individuals whereas in affected patients there are between 50 and 4, 000 CTGs. | 0 |
['The', 'size', 'of', 'the', '(', 'CTG', ')', 'n', 'repeat', ',', 'which', 'increases', 'through', 'generations', ',', 'generally', 'correlates', 'with', 'clinical', 'severity', 'and', 'age', 'of', 'onset', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-671 | The size of the (CTG) n repeat, which increases through generations, generally correlates with clinical severity and age of onset. | 0 |
['The', 'instability', 'of', 'the', 'CTG', 'repeat', 'appears', 'to', 'depend', 'on', 'its', 'size', 'as', 'well', 'as', 'on', 'the', 'sex', 'of', 'the', 'transmitting', 'parent', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-672 | The instability of the CTG repeat appears to depend on its size as well as on the sex of the transmitting parent. | 0 |
['Moreover', ',', 'mitotic', 'instability', 'analysis', 'of', 'different', 'human', 'DM', 'tissues', 'shows', 'length', 'mosaicism', 'between', 'different', 'cell', 'lineages', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-673 | Moreover, mitotic instability analysis of different human DM tissues shows length mosaicism between different cell lineages. | 1 |
['The', 'molecular', 'mechanisms', 'of', 'triplet', 'instability', 'remain', 'elusive', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-674 | The molecular mechanisms of triplet instability remain elusive. | 0 |
['To', 'investigate', 'the', 'role', 'of', 'genomic', 'sequences', 'in', 'instability', ',', 'we', 'produced', 'transgenic', 'mice', 'containing', 'a', '45', '-', 'kb', 'genomic', 'segment', 'with', 'a', '55', '-', 'CTG', 'repeat', 'cloned', 'from', 'a', 'mildly', 'affected', 'patient', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-675 | To investigate the role of genomic sequences in instability, we produced transgenic mice containing a 45-kb genomic segment with a 55-CTG repeat cloned from a mildly affected patient. | 0 |
['In', 'contrast', 'to', 'other', 'mouse', 'models', 'containing', 'CAG', 'repeats', 'within', 'cDNAs', ',', 'these', 'mice', 'showed', 'both', 'intergenerational', 'and', 'somatic', 'repeat', 'instability', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-676 | In contrast to other mouse models containing CAG repeats within cDNAs, these mice showed both intergenerational and somatic repeat instability.. | 0 |
['Missense', 'mutations', 'in', 'the', 'Fas', 'gene', 'resulting', 'in', 'autoimmune', 'lymphoproliferative', 'syndrome', ':', 'a', 'molecular', 'and', 'immunological', 'analysis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0] | validation-677 | Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome:a molecular and immunological analysis. | 1 |
['Programmed', 'cell', 'death', '(', 'or', 'apoptosis', ')', 'is', 'a', 'physiological', 'process', 'essential', 'to', 'the', 'normal', 'development', 'and', 'homeostatic', 'maintenance', 'of', 'the', 'immune', 'system', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-678 | Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system. | 0 |
['The', 'Fas', '/', 'Apo', '-', '1', 'receptor', 'plays', 'a', 'crucial', 'role', 'in', 'the', 'regulation', 'of', 'apoptosis', ',', 'as', 'demonstrated', 'by', 'lymphoproliferation', 'in', 'MRL', '-', 'lpr', '/', 'lpr', 'mice', 'and', 'by', 'the', 'recently', 'described', 'autoimmune', 'lymphoproliferative', 'syndrome', '(', 'ALPS', ')', 'in', 'humans', ',', 'both', 'of', 'which', 'are', 'due', 'to', 'mutations', 'in', 'the', 'Fas', '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, 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] | validation-679 | The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene. | 1 |
['We', 'describe', 'a', 'novel', 'family', 'with', 'ALPS', 'in', 'which', 'three', 'affected', 'siblings', 'carry', 'two', 'distinct', 'missense', 'mutations', 'on', 'both', 'the', 'Fas', 'gene', 'alleles', 'and', 'show', 'lack', 'of', 'Fas', '-', 'induced', 'apoptosis', '.'] | [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] | validation-680 | We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis. | 1 |
['The', 'children', 'share', 'common', 'clinical', 'features', 'including', 'splenomegaly', 'and', 'lymphadenopathy', ',', 'but', 'only', 'one', 'developed', 'severe', 'autoimmune', 'manifestations', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-681 | The children share common clinical features including splenomegaly and lymphadenopathy, but only one developed severe autoimmune manifestations. | 1 |
['In', 'all', 'three', 'siblings', ',', 'we', 'demonstrated', 'the', 'presence', 'of', 'anergic', 'CD3', '+', 'CD4', '-', 'CD8', '-', '(', 'double', 'negative', ',', '[', 'DN', ']', ')', 'T', 'cells', ';', 'moreover', ',', 'a', 'chronic', 'lymphocyte', 'activation', 'was', 'found', ',', 'as', 'demonstrated', 'by', 'the', 'presence', 'of', 'high', 'levels', 'of', 'HLA', '-', 'DR', 'expression', 'on', 'peripheral', 'CD3', '+', 'cells', 'and', 'by', 'the', 'presence', 'of', 'high', 'levels', 'of', 'serum', 'activation', 'markers', 'such', 'as', 'soluble', 'interleukin', '-', '2', 'receptor', '(', 'slL', '-', '2R', ')', 'and', 'soluble', 'CD30', '(', 'sCD30', ')', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-682 | In all three siblings, we demonstrated the presence of anergic CD3+CD4-CD8-(double negative, [DN]) T cells;moreover, a chronic lymphocyte activation was found, as demonstrated by the presence of high levels of HLA-DR expression on peripheral CD3+cells and by the presence of high levels of serum activation markers such as soluble interleukin-2 receptor (slL-2R) and soluble CD30 (sCD30).. | 0 |
['The', 'ataxia', '-', 'telangiectasia', 'gene', 'product', ',', 'a', 'constitutively', 'expressed', 'nuclear', 'protein', 'that', 'is', 'not', 'up', '-', 'regulated', 'following', 'genome', 'damage', '.'] | [0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-683 | The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. | 1 |
['The', 'product', 'of', 'the', 'ataxia', '-', 'telangiectasia', 'gene', '(', 'ATM', ')', 'was', 'identified', 'by', 'using', 'an', 'antiserum', 'developed', 'to', 'a', 'peptide', 'corresponding', 'to', 'the', 'deduced', 'amino', 'acid', 'sequence', '.'] | [0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-684 | The product of the ataxia-telangiectasia gene (ATM) was identified by using an antiserum developed to a peptide corresponding to the deduced amino acid sequence. | 1 |
['The', 'ATM', 'protein', 'is', 'a', 'single', ',', 'high', '-', 'molecular', 'weight', 'protein', 'predominantly', 'confined', 'to', 'the', 'nucleus', 'of', 'human', 'fibroblasts', ',', 'but', 'is', 'present', 'in', 'both', 'nuclear', 'and', 'microsomal', 'fractions', 'from', 'human', 'lymphoblast', 'cells', 'and', 'peripheral', 'blood', 'lymphocytes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-685 | The ATM protein is a single, high-molecular weight protein predominantly confined to the nucleus of human fibroblasts, but is present in both nuclear and microsomal fractions from human lymphoblast cells and peripheral blood lymphocytes. | 0 |
['ATM', 'protein', 'levels', 'and', 'localization', 'remain', 'constant', 'throughout', 'all', 'stages', 'of', 'the', 'cell', 'cycle', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-686 | ATM protein levels and localization remain constant throughout all stages of the cell cycle. | 0 |
['Truncated', 'ATM', 'protein', 'was', 'not', 'detected', 'in', 'lymphoblasts', 'from', 'ataxia', '-', 'telangiectasia', 'patients', 'homozygous', 'for', 'mutations', 'leading', 'to', 'premature', 'protein', 'termination', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-687 | Truncated ATM protein was not detected in lymphoblasts from ataxia-telangiectasia patients homozygous for mutations leading to premature protein termination. | 1 |
['Exposure', 'of', 'normal', 'human', 'cells', 'to', 'gamma', '-', 'irradiation', 'and', 'the', 'radiomimetic', 'drug', 'neocarzinostatin', 'had', 'no', 'effect', 'on', 'ATM', 'protein', 'levels', ',', 'in', 'contrast', 'to', 'a', 'noted', 'rise', 'in', 'p53', 'levels', 'over', 'the', 'same', 'time', 'interval', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-688 | Exposure of normal human cells to gamma-irradiation and the radiomimetic drug neocarzinostatin had no effect on ATM protein levels, in contrast to a noted rise in p53 levels over the same time interval. | 0 |
['These', 'findings', 'are', 'consistent', 'with', 'a', 'role', 'for', 'the', 'ATM', 'protein', 'in', 'ensuring', 'the', 'fidelity', 'of', 'DNA', 'repair', 'and', 'cell', 'cycle', 'regulation', 'following', 'genome', '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] | validation-689 | These findings are consistent with a role for the ATM protein in ensuring the fidelity of DNA repair and cell cycle regulation following genome damage.. | 0 |
['Type', 'III', 'collagen', 'is', 'crucial', 'for', 'collagen', 'I', 'fibrillogenesis', 'and', 'for', 'normal', 'cardiovascular', 'development', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-690 | Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. | 0 |
['Type', 'III', 'collagen', 'is', 'a', 'fibrillar', 'forming', 'collagen', 'comprising', 'three', 'alpha1', '(', 'III', ')', 'chains', 'and', 'is', 'expressed', 'in', 'early', 'embryos', 'and', 'throughout', 'embryogenesis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-691 | Type III collagen is a fibrillar forming collagen comprising three alpha1 (III) chains and is expressed in early embryos and throughout embryogenesis. | 0 |
['In', 'the', 'adult', ',', 'type', 'III', 'collagen', 'is', 'a', 'major', 'component', 'of', 'the', 'extracellular', 'matrix', 'in', 'a', 'variety', 'of', 'internal', 'organs', 'and', 'skin', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-692 | In the adult, type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin. | 0 |
['Mutations', 'in', 'the', 'COL3A1', 'gene', 'have', 'been', 'implicated', 'as', 'a', 'cause', 'of', 'type', 'IV', 'Ehlers', '-', 'Danlos', 'syndrome', ',', 'a', 'disease', 'leading', 'to', 'aortic', 'rupture', 'in', 'early', 'adult', 'life', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0] | validation-693 | Mutations in the COL3A1 gene have been implicated as a cause of type IV Ehlers-Danlos syndrome, a disease leading to aortic rupture in early adult life. | 1 |
['To', 'directly', 'study', 'the', 'role', 'of', 'Col3a1', 'in', 'development', 'and', 'disease', ',', 'we', 'have', 'inactivated', 'the', 'Col3a1', 'gene', 'in', 'embryonic', 'stem', 'cells', 'by', 'homologous', '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] | validation-694 | To directly study the role of Col3a1 in development and disease, we have inactivated the Col3a1 gene in embryonic stem cells by homologous recombination. | 0 |
['The', 'mutated', 'allele', 'was', 'transmitted', 'through', 'the', 'mouse', 'germ', 'line', 'and', 'homozygous', 'mutant', 'animals', 'were', 'derived', 'from', 'heterozygous', 'intercrosses', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-695 | The mutated allele was transmitted through the mouse germ line and homozygous mutant animals were derived from heterozygous intercrosses. | 0 |
['About', '10', '%', 'of', 'the', 'homozygous', 'mutant', 'animals', 'survived', 'to', 'adulthood', 'but', 'have', 'a', 'much', 'shorter', 'life', 'span', 'compared', 'with', 'wild', '-', 'type', 'mice', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-696 | About 10% of the homozygous mutant animals survived to adulthood but have a much shorter life span compared with wild-type mice. | 0 |
['The', 'major', 'cause', 'of', 'death', 'of', 'mutant', 'mice', 'was', 'rupture', 'of', 'the', 'major', 'blood', 'vessels', ',', 'similar', 'to', 'patients', 'with', 'type', 'IV', 'Ehlers', '-', 'Danlos', 'syndrome', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0] | validation-697 | The major cause of death of mutant mice was rupture of the major blood vessels, similar to patients with type IV Ehlers-Danlos syndrome. | 1 |
['Ultrastructural', 'analysis', 'of', 'tissues', 'from', 'mutant', 'mice', 'revealed', 'that', 'type', 'III', 'collagen', 'is', 'essential', 'for', 'normal', 'collagen', 'I', 'fibrillogenesis', 'in', 'the', 'cardiovascular', 'system', 'and', 'other', 'organs', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-698 | Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs.. | 0 |
['Nonsense', 'mutation', 'in', 'exon', '3', 'of', 'the', 'proteolipid', 'protein', 'gene', '(', 'PLP', ')', 'in', 'a', 'family', 'with', 'an', 'unusual', 'form', 'of', 'Pelizaeus', '-', 'Merzbacher', 'disease', '.'] | [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] | validation-699 | Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. | 1 |
['We', 'report', 'a', 'G', '-', '-', '>', 'A', 'transition', 'at', 'nucleotide', '431', 'of', 'the', 'proteolipid', 'protein', 'gene', '(', 'PLP', ')', 'results', 'in', 'a', 'nonsense', 'codon', 'in', 'a', 'family', 'with', 'an', 'unusual', 'form', 'of', 'Pelizaeus', '-', 'Merzbacher', 'disease', '(', 'PMD', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 1, 0, 0] | validation-700 | We report a G-->A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). | 1 |
['The', 'mutation', ',', 'which', 'creates', 'a', 'second', 'AluI', 'restriction', 'site', ',', 'results', 'in', 'a', 'nonsense', 'mutation', 'in', 'PLP', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-701 | The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. | 0 |
['The', 'clinical', 'picture', 'resembles', 'somewhat', 'that', 'of', 'X', '-', 'linked', 'spastic', 'paraplegia', '(', 'SPG', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 0, 0] | validation-702 | The clinical picture resembles somewhat that of X-linked spastic paraplegia (SPG). | 1 |
['It', 'differs', 'from', 'this', 'and', 'both', 'the', 'classical', 'and', 'connatal', 'forms', 'of', 'PMD', 'in', 'that', 'it', 'is', 'relatively', 'mild', 'in', 'form', ',', 'onset', 'is', 'delayed', 'beyond', 'age', '2', 'years', ',', 'nystagmus', 'is', 'absent', ',', 'tremors', 'are', 'prominent', ',', 'mental', 'retardation', 'is', 'not', 'severe', ',', 'some', 'patients', 'show', 'dementia', 'or', 'personality', 'disorders', ',', 'the', 'disease', 'is', 'progressive', 'rather', 'than', 'static', 'in', 'some', ',', 'and', 'several', 'females', 'show', 'signs', 'of', 'disease', '.'] | [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, 1, 0, 0, 0, 1, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-703 | It differs from this and both the classical and connatal forms of PMD in that it is relatively mild in form, onset is delayed beyond age 2 years, nystagmus is absent, tremors are prominent, mental retardation is not severe, some patients show dementia or personality disorders, the disease is progressive rather than static in some, and several females show signs of disease. | 1 |
['The', 'nonsense', 'mutation', ',', 'which', 'is', 'in', 'exon', '3B', ',', 'should', 'block', 'the', 'synthesis', 'of', 'normal', 'PLP', 'but', 'spare', 'DM20', ',', 'the', 'isoform', 'whose', 'persistence', 'has', 'been', 'associated', 'with', 'mild', 'forms', 'of', 'PLP', '-', 'associated', 'disease', 'in', 'both', 'humans', 'and', 'mice', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0] | validation-704 | The nonsense mutation, which is in exon 3B, should block the synthesis of normal PLP but spare DM20, the isoform whose persistence has been associated with mild forms of PLP-associated disease in both humans and mice.. | 1 |
['Common', 'BRCA1', 'variants', 'and', 'susceptibility', 'to', 'breast', 'and', 'ovarian', 'cancer', 'in', 'the', 'general', 'population', '.'] | [0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0] | validation-705 | Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. | 1 |
['Most', 'multiple', 'case', 'families', 'of', 'young', 'onset', 'breast', 'cancer', 'and', 'ovarian', 'cancer', 'are', 'thought', 'to', 'be', 'due', 'to', 'highly', 'penetrant', 'mutations', 'in', 'the', 'predisposing', 'genes', 'BRCA1', 'and', 'BRCA2', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-706 | Most multiple case families of young onset breast cancer and ovarian cancer are thought to be due to highly penetrant mutations in the predisposing genes BRCA1 and BRCA2. | 1 |
['However', ',', 'these', 'mutations', 'are', 'uncommon', 'in', 'the', 'population', 'and', 'they', 'probably', 'account', 'for', 'only', 'a', 'few', 'percent', 'of', 'all', 'breast', 'cancer', 'incidence', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0] | validation-707 | However, these mutations are uncommon in the population and they probably account for only a few percent of all breast cancer incidence. | 1 |
['A', 'much', 'larger', 'fraction', 'of', 'breast', 'cancer', 'might', ',', 'in', 'principle', ',', 'be', 'due', 'to', 'common', 'variants', 'which', 'confer', 'more', 'modest', 'individual', 'risks', '.'] | [0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-708 | A much larger fraction of breast cancer might, in principle, be due to common variants which confer more modest individual risks. | 1 |
['There', 'are', 'several', 'common', 'polymorphisms', 'in', 'the', 'BRCA1', 'gene', 'which', 'generate', 'amino', 'acid', 'substitutions', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-709 | There are several common polymorphisms in the BRCA1 gene which generate amino acid substitutions. | 0 |
['We', 'have', 'examined', 'the', 'frequency', 'of', 'four', 'of', 'these', 'polymorphisms', 'Gln356Arg', ',', 'Pro871Leu', ',', 'Glu1038Gly', 'and', 'Ser1613Gly', 'in', 'large', 'series', 'of', 'breast', 'and', 'ovarian', 'cancer', 'cases', 'and', 'matched', 'controls', '.'] | [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] | validation-710 | We have examined the frequency of four of these polymorphisms Gln356Arg, Pro871Leu, Glu1038Gly and Ser1613Gly in large series of breast and ovarian cancer cases and matched controls. | 1 |
['Due', 'to', 'strong', 'linkage', 'disequilibrium', ',', 'these', 'four', 'sites', 'generate', 'only', 'three', 'haplotypes', 'with', 'a', 'frequency', '>', '1', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-711 | Due to strong linkage disequilibrium, these four sites generate only three haplotypes with a frequency>1. | 0 |
['3', '%', '.'] | [0, 0, 0] | validation-712 | 3%. | 0 |
['The', 'most', 'common', 'haplotypes', ',', 'defined', 'by', 'the', 'alleles', 'Gln356Pro871Glu1038Ser1613', 'and', 'Gln356Leu871Gly1038Gly1613', ',', 'have', 'frequencies', 'of', '0', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-713 | The most common haplotypes, defined by the alleles Gln356Pro871Glu1038Ser1613 and Gln356Leu871Gly1038Gly1613, have frequencies of 0. | 0 |
['57', 'and', '0', '.'] | [0, 0, 0, 0] | validation-714 | 57 and 0. | 0 |
['32', 'respectively', ',', 'and', 'these', 'frequencies', 'do', 'not', 'differ', 'significantly', 'between', 'patient', 'and', 'control', 'groups', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-715 | 32 respectively, and these frequencies do not differ significantly between patient and control groups. | 0 |
['Thus', 'the', 'most', 'common', 'polymorphisms', 'of', 'the', 'BRCA1', 'gene', 'do', 'not', 'make', 'a', 'significant', 'contribution', 'to', 'breast', 'or', 'ovarian', 'cancer', 'risk', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0] | validation-716 | Thus the most common polymorphisms of the BRCA1 gene do not make a significant contribution to breast or ovarian cancer risk. | 1 |
['However', ',', 'our', 'data', 'suggest', 'that', 'the', 'Arg356', 'allele', 'may', 'have', 'a', 'different', 'genotype', 'distribution', 'in', 'breast', 'cancer', 'patients', 'from', 'that', 'in', 'controls', '(', 'Arg356', 'homozygotes', 'are', 'more', 'frequent', 'in', 'the', 'control', 'groups', ',', 'P', '=', '0', '.', '01', ')', ',', 'indicating', 'that', 'it', 'may', 'be', 'protective', 'against', 'breast', 'cancer', '.'] | [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, 1, 2, 0] | validation-717 | However, our data suggest that the Arg356 allele may have a different genotype distribution in breast cancer patients from that in controls (Arg356 homozygotes are more frequent in the control groups, P=0. 01), indicating that it may be protective against breast cancer. | 1 |
['If', 'this', 'finding', 'can', 'be', 'confirmed', ',', 'it', 'may', 'provide', 'an', 'insight', 'into', 'the', 'structural', 'features', 'of', 'the', 'BRCA1', 'protein', 'that', 'are', 'important', 'for', 'its', 'function', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-718 | If this finding can be confirmed, it may provide an insight into the structural features of the BRCA1 protein that are important for its function. | 0 |
['Kniest', 'dysplasia', ':', 'Dr', '.', 'W', '.'] | [1, 2, 0, 0, 0, 0, 0] | validation-719 | Kniest dysplasia:Dr. W. | 1 |
['Kniest', ',', 'his', 'patient', ',', 'the', 'molecular', 'defect', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-720 | Kniest, his patient, the molecular defect. | 0 |
['Kniest', 'dysplasia', 'is', 'a', 'severe', 'chondrodysplasia', 'caused', 'by', 'the', 'defective', 'formation', 'of', 'type', 'II', 'collagen', '.'] | [1, 2, 0, 0, 0, 1, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0] | validation-721 | Kniest dysplasia is a severe chondrodysplasia caused by the defective formation of type II collagen. | 1 |
['We', 'report', 'about', 'Dr', '.', 'Kniest', ',', 'who', 'first', 'described', 'the', 'condition', 'in', '1952', ',', 'and', 'his', 'patient', ',', 'who', ',', 'at', 'the', 'age', 'of', '50', 'years', 'is', 'severely', 'handicapped', 'with', 'short', 'stature', ',', 'restricted', 'joint', 'mobility', ',', 'and', 'blindness', 'but', 'is', 'mentally', 'alert', 'and', 'leads', 'an', 'active', 'life', '.'] | [0, 0, 0, 0, 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, 1, 2, 0, 1, 2, 2, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-722 | We report about Dr. Kniest, who first described the condition in 1952, and his patient, who, at the age of 50 years is severely handicapped with short stature, restricted joint mobility, and blindness but is mentally alert and leads an active life. | 1 |
['Molecular', 'analysis', 'of', 'the', 'patients', 'DNA', 'showed', 'a', 'single', 'base', '(', 'G', ')', 'deletion', 'involving', 'the', 'GT', 'dinucleotide', 'at', 'the', 'start', 'of', 'intron', '18', 'destroying', 'a', 'splice', 'site', 'of', 'the', 'COL2A1', '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, 0, 0, 0, 0, 0, 0] | validation-723 | Molecular analysis of the patients DNA showed a single base (G) deletion involving the GT dinucleotide at the start of intron 18 destroying a splice site of the COL2A1 gene. | 0 |
['This', 'is', 'in', 'accordance', 'with', 'molecular', 'findings', 'in', 'other', 'patients', 'with', 'Kniest', 'dysplasia', 'and', 'confirms', ',', 'in', 'the', 'original', 'patient', ',', 'that', 'the', 'disorder', 'is', 'caused', 'by', 'small', 'inframe', 'deletions', 'often', 'due', 'to', 'exon', 'skipping', 'as', 'a', 'result', 'of', 'COL2A1', 'splice', 'site', 'mutations', '.', '.'] | [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] | validation-724 | This is in accordance with molecular findings in other patients with Kniest dysplasia and confirms, in the original patient, that the disorder is caused by small inframe deletions often due to exon skipping as a result of COL2A1 splice site mutations.. | 1 |
['Cloning', 'of', 'the', 'homogentisate', '1', ',', '2', '-', 'dioxygenase', 'gene', ',', 'the', 'key', 'enzyme', 'of', 'alkaptonuria', 'in', 'mouse', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0] | validation-725 | Cloning of the homogentisate 1, 2-dioxygenase gene, the key enzyme of alkaptonuria in mouse. | 1 |
['We', 'determined', '48', 'amino', 'acid', 'residues', 'from', 'five', 'peptides', 'from', 'the', 'homogeneous', 'monomer', 'of', 'homogentisate', '1', ',', '2', '-', 'dioxygenase', '(', 'HGO', ';', 'E', '.', 'C', '.', '1', '.', '13', '.', '11', '.', '15', ')', 'of', 'mouse', 'liver', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-726 | We determined 48 amino acid residues from five peptides from the homogeneous monomer of homogentisate 1, 2-dioxygenase (HGO;E. C. 1. 13. 11. 15) of mouse liver. | 0 |
['After', 'digestion', 'with', 'trypsin', ',', 'peptides', 'were', 'separated', 'by', 'reversed', 'phase', 'chromatography', 'and', 'amino', 'acid', 'sequenced', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-727 | After digestion with trypsin, peptides were separated by reversed phase chromatography and amino acid sequenced. | 0 |
['The', 'deduced', 'codon', 'sequence', 'of', 'three', 'peptides', 'was', 'used', 'to', 'derive', 'degenerated', 'oligomeres', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-728 | The deduced codon sequence of three peptides was used to derive degenerated oligomeres. | 0 |
['By', 'combining', 'these', 'oligos', ',', 'we', 'were', 'able', 'to', 'amplify', 'fragments', 'from', '100', 'to', '300', 'bases', '(', 'b', ')', 'from', 'mouse', 'liver', 'cDNA', 'by', 'polymerase', 'chain', 'reaction', 'after', 'reverse', 'transcription', '(', 'RT', '-', 'PCR', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-729 | By combining these oligos, we were able to amplify fragments from 100 to 300 bases (b) from mouse liver cDNA by polymerase chain reaction after reverse transcription (RT-PCR). | 0 |
['A', 'fragment', 'of', '200', 'b', 'was', 'cloned', 'and', 'used', 'as', 'a', 'probe', 'to', 'screen', 'a', 'mouse', 'liver', 'cDNA', 'library', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-730 | A fragment of 200 b was cloned and used as a probe to screen a mouse liver cDNA library. | 0 |
['One', 'clone', 'from', 'this', 'library', 'contained', 'the', 'complete', 'cDNA', '-', 'insert', 'for', 'HGO', 'as', 'determined', 'by', 'sequencing', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-731 | One clone from this library contained the complete cDNA-insert for HGO as determined by sequencing. | 0 |
['The', 'cDNA', 'encodes', 'for', 'a', 'protein', 'of', '50', 'kDa', ',', 'as', 'predicted', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-732 | The cDNA encodes for a protein of 50 kDa, as predicted. | 0 |
['The', 'cDNA', 'of', 'mouse', 'HGO', 'has', 'an', 'overall', 'identity', 'of', '41', '%', 'to', 'the', 'corresponding', 'gene', 'hmgA', 'from', 'Aspergillus', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-733 | The cDNA of mouse HGO has an overall identity of 41% to the corresponding gene hmgA from Aspergillus. | 0 |
['Sequence', 'similarities', 'to', 'human', 'expressed', 'sequence', 'tags', '(', 'EST', ')', 'clones', 'ranged', 'from', '70', '%', 'to', '20', '%', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-734 | Sequence similarities to human expressed sequence tags (EST) clones ranged from 70% to 20%. | 0 |
['The', 'positions', 'of', '122', 'conserved', 'amino', 'acids', 'could', 'be', 'determined', 'by', 'multiple', 'sequence', 'alignment', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-735 | The positions of 122 conserved amino acids could be determined by multiple sequence alignment. | 0 |
['We', 'identified', 'one', 'first', 'intron', 'of', '928', 'b', 'in', 'the', 'mouse', 'gene', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-736 | We identified one first intron of 928 b in the mouse gene. | 0 |
['The', 'gene', 'for', 'HGO', 'seems', 'to', 'be', 'expressed', 'in', 'various', 'tissues', ',', 'as', 'shown', 'by', 'RT', '-', 'PCR', 'on', 'different', 'cDNAs', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-737 | The gene for HGO seems to be expressed in various tissues, as shown by RT-PCR on different cDNAs. | 0 |
['FISH', 'experiments', 'with', 'the', 'whole', 'murine', 'cDNA', 'as', 'probe', 'clearly', 'revealed', 'signals', 'at', 'the', 'human', 'chromosomal', 'band', '3q13', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-738 | FISH experiments with the whole murine cDNA as probe clearly revealed signals at the human chromosomal band 3q13. | 0 |
['3', '-', 'q21', '.'] | [0, 0, 0, 0] | validation-739 | 3-q21. | 0 |
['This', 'corresponds', 'well', 'to', 'the', 'previous', 'assignment', 'of', 'the', 'locus', 'for', 'the', 'human', 'alkaptonuria', 'gene', '(', 'AKU', ')', 'to', 'the', 'same', 'chromosomal', 'region', 'by', 'multipoint', 'linkage', 'analysis', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-740 | This corresponds well to the previous assignment of the locus for the human alkaptonuria gene (AKU) to the same chromosomal region by multipoint linkage analysis. | 1 |
['We', 'therefore', 'conclude', 'that', 'the', 'HGO', 'cDNA', 'encodes', 'the', 'gene', 'responsible', 'for', 'alkaptonuria', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0] | validation-741 | We therefore conclude that the HGO cDNA encodes the gene responsible for alkaptonuria. | 1 |
['PTEN', ',', 'a', 'putative', 'protein', 'tyrosine', 'phosphatase', 'gene', 'mutated', 'in', 'human', 'brain', ',', 'breast', ',', 'and', 'prostate', 'cancer', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0] | validation-742 | PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. | 1 |
['Mapping', 'of', 'homozygous', 'deletions', 'on', 'human', 'chromosome', '10q23', 'has', 'led', 'to', 'the', 'isolation', 'of', 'a', 'candidate', 'tumor', 'suppressor', 'gene', ',', 'PTEN', ',', 'that', 'appears', 'to', 'be', 'mutated', 'at', 'considerable', 'frequency', 'in', 'human', 'cancers', '.'] | [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, 1, 0] | validation-743 | Mapping of homozygous deletions on human chromosome 10q23 has led to the isolation of a candidate tumor suppressor gene, PTEN, that appears to be mutated at considerable frequency in human cancers. | 1 |
['In', 'preliminary', 'screens', ',', 'mutations', 'of', 'PTEN', 'were', 'detected', 'in', '31', '%', '(', '13', '/', '42', ')', 'of', 'glioblastoma', 'cell', 'lines', 'and', 'xenografts', ',', '100', '%', '(', '4', '/', '4', ')', 'of', 'prostate', 'cancer', 'cell', 'lines', ',', '6', '%', '(', '4', '/', '65', ')', 'of', 'breast', 'cancer', 'cell', 'lines', 'and', 'xenografts', ',', 'and', '17', '%', '(', '3', '/', '18', ')', 'of', 'primary', 'glioblastomas', '.'] | [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, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0] | validation-744 | In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas. | 1 |
['The', 'predicted', 'PTEN', 'product', 'has', 'a', 'protein', 'tyrosine', 'phosphatase', 'domain', 'and', 'extensive', 'homology', 'to', 'tensin', ',', 'a', 'protein', 'that', 'interacts', 'with', 'actin', 'filaments', 'at', 'focal', 'adhesions', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-745 | The predicted PTEN product has a protein tyrosine phosphatase domain and extensive homology to tensin, a protein that interacts with actin filaments at focal adhesions. | 0 |
['These', 'homologies', 'suggest', 'that', 'PTEN', 'may', 'suppress', 'tumor', 'cell', 'growth', 'by', 'antagonizing', 'protein', 'tyrosine', 'kinases', 'and', 'may', 'regulate', 'tumor', 'cell', 'invasion', 'and', 'metastasis', 'through', 'interactions', 'at', 'focal', 'adhesions', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0] | validation-746 | These homologies suggest that PTEN may suppress tumor cell growth by antagonizing protein tyrosine kinases and may regulate tumor cell invasion and metastasis through interactions at focal adhesions.. | 1 |
['Heterogeneity', 'in', 'Schwartz', '-', 'Jampel', 'chondrodystrophic', 'myotonia', '.'] | [0, 0, 1, 2, 2, 2, 2, 0] | validation-747 | Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. | 1 |
['The', 'Schwartz', '-', 'Jampel', 'syndrome', '(', 'SJS', ';', 'chondrodystrophic', 'myotonia', ';', 'McK', '255', ',', '800', ')', 'is', 'a', 'recessively', 'inherited', 'condition', 'defined', 'by', 'myotonia', ',', 'short', 'stature', ',', 'and', 'bone', 'dysplasia', '.'] | [0, 1, 2, 2, 2, 0, 1, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 1, 0, 1, 2, 0, 0, 1, 2, 0] | validation-748 | The Schwartz-Jampel syndrome (SJS;chondrodystrophic myotonia;McK 255, 800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia. | 1 |
['Genetic', 'linkage', 'between', 'SJS', 'and', 'chromosomal', 'region', '1q36', '-', '34', 'has', 'been', 'observed', 'in', 'several', 'families', ',', 'but', 'the', 'gene', 'has', 'not', 'yet', 'been', 'identified', '.'] | [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] | validation-749 | Genetic linkage between SJS and chromosomal region 1q36-34 has been observed in several families, but the gene has not yet been identified. | 1 |
['We', 'studied', 'the', 'clinical', 'and', 'radiological', 'features', 'in', '81', 'patients', 'from', 'the', 'literature', 'and', '5', 'own', 'patients', 'trying', 'to', 'identify', 'distinct', 'subgroups', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-750 | We studied the clinical and radiological features in 81 patients from the literature and 5 own patients trying to identify distinct subgroups. | 0 |
['In', 'addition', ',', 'we', 'tested', 'genetic', 'linkage', 'to', 'the', 'SJS', 'locus', 'on', 'chromosome', '1', 'in', 'one', 'family', 'with', 'two', 'affected', 'sibs', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-751 | In addition, we tested genetic linkage to the SJS locus on chromosome 1 in one family with two affected sibs. | 1 |
['We', 'found', 'that', 'a', 'group', 'of', 'patients', 'have', 'mild', 'skeletal', 'changes', 'which', 'may', 'be', 'secondary', 'consequences', 'of', 'myotonia', ',', 'while', 'another', 'group', 'of', 'patients', 'appear', 'to', 'have', 'primary', 'bone', 'dysplasia', 'with', 'myotonia', '.'] | [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, 1, 2, 0, 1, 0] | validation-752 | We found that a group of patients have mild skeletal changes which may be secondary consequences of myotonia, while another group of patients appear to have primary bone dysplasia with myotonia. | 1 |
['Within', 'this', 'latter', 'group', ',', 'there', 'are', 'differences', 'in', 'age', 'of', 'manifestation', ',', 'clinical', 'course', 'and', 'pattern', 'of', 'bone', 'changes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-753 | Within this latter group, there are differences in age of manifestation, clinical course and pattern of bone changes. | 0 |
['We', 'tentatively', 'isolate', 'three', 'different', 'types', 'of', 'SJS', 'type', '1A', ',', 'usually', 'recognized', 'in', 'childhood', ',', 'with', 'moderate', 'bone', 'dysplasia', ',', 'corresponding', 'to', 'the', 'original', 'descriptions', 'of', 'Schwartz', ',', 'Jampel', 'and', 'Aberfeld', ';', 'type', '1B', ',', 'similar', 'to', 'type', '1A', 'but', 'recognizable', 'at', 'birth', ',', 'with', 'more', 'pronounced', 'bone', 'dysplasia', 'resembling', 'Kniest', 'dysplasia', ';', 'and', 'type', '2', ',', 'manifest', 'at', 'birth', ',', 'with', 'increased', 'mortality', 'and', 'bone', 'dysplasia', 'resembling', 'Pyle', 'disease', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 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, 1, 2, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0] | validation-754 | We tentatively isolate three different types of SJS type 1A, usually recognized in childhood, with moderate bone dysplasia, corresponding to the original descriptions of Schwartz, Jampel and Aberfeld;type 1B, similar to type 1A but recognizable at birth, with more pronounced bone dysplasia resembling Kniest dysplasia;and type 2, manifest at birth, with increased mortality and bone dysplasia resembling Pyle disease. | 1 |
['Genetic', 'analysis', 'of', 'the', 'family', 'with', 'two', 'sibs', 'affected', 'by', 'SJS', 'type', '2', 'showed', 'evidence', 'against', 'linkage', 'to', 'chromosome', '1p36', '-', '34', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-755 | Genetic analysis of the family with two sibs affected by SJS type 2 showed evidence against linkage to chromosome 1p36-34. | 1 |
['CONCLUSIONS', 'SJS', 'is', 'clinically', 'and', 'radiologically', 'heterogeneous', '.'] | [0, 1, 0, 0, 0, 0, 0, 0] | validation-756 | CONCLUSIONS SJS is clinically and radiologically heterogeneous. | 1 |
['The', 'causes', 'of', 'heterogeneity', 'are', 'not', 'known', 'yet', 'but', 'are', 'likely', 'to', 'include', 'both', 'different', 'mutations', 'at', 'the', 'SJS', 'locus', 'on', 'chromosome', '1', 'and', 'the', 'presence', 'of', 'a', 'second', 'SJS', 'locus', '.'] | [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, 1, 0, 0] | validation-757 | The causes of heterogeneity are not known yet but are likely to include both different mutations at the SJS locus on chromosome 1 and the presence of a second SJS locus. | 1 |
['A', 'tentative', 'clinico', '-', 'radiological', 'classification', 'can', 'be', 'useful', 'for', 'the', 'characterization', 'of', 'patients', 'and', 'the', 'development', 'of', 'genotype', '-', 'phenotype', 'correlations', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-758 | A tentative clinico-radiological classification can be useful for the characterization of patients and the development of genotype-phenotype correlations.. | 0 |
['A', 'clinical', 'overview', 'of', 'WT1', 'gene', 'mutations', '.'] | [0, 0, 0, 0, 0, 0, 0, 0] | validation-759 | A clinical overview of WT1 gene mutations. | 0 |
['Mutations', 'in', 'the', 'WT1', 'gene', 'were', 'anticipated', 'to', 'explain', 'the', 'genetic', 'basis', 'of', 'the', 'childhood', 'kidney', 'cancer', ',', 'Wilms', 'tumour', '(', 'WT', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 1, 0, 0] | validation-760 | Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood kidney cancer, Wilms tumour (WT). | 1 |
['Six', 'years', 'on', ',', 'we', 'review', '100', 'reports', 'of', 'intragenic', 'WT1', 'mutations', 'and', 'examine', 'the', 'accompanying', 'clinical', 'phenotypes', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-761 | Six years on, we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes. | 0 |
['While', 'only', '5', '%', 'of', 'sporadic', 'Wilms', 'tumours', 'have', 'intragenic', 'WT1', 'mutations', ',', '>', '90', '%', 'of', 'patients', 'with', 'the', 'Denys', '-', 'Drash', 'syndrome', '(', 'renal', 'nephropathy', ',', 'gonadal', 'anomaly', ',', 'predisposition', 'to', 'WT', ')', 'carry', 'constitutional', 'intragenic', 'WT1', 'mutations', '.'] | [0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 2, 0, 1, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0] | validation-762 | While only 5% of sporadic Wilms tumours have intragenic WT1 mutations,>90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations. | 1 |
['WT1', 'mutations', 'have', 'also', 'been', 'reported', 'in', 'juvenile', 'granulosa', 'cell', 'tumour', ',', 'non', '-', 'asbestos', 'related', 'mesothelioma', ',', 'desmoplastic', 'small', 'round', 'cell', 'tumour', 'and', ',', 'most', 'recently', ',', 'acute', 'myeloid', 'leukemia', '.', '.'] | [0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 2, 2, 2, 2, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0] | validation-763 | WT1 mutations have also been reported in juvenile granulosa cell tumour, non-asbestos related mesothelioma, desmoplastic small round cell tumour and, most recently, acute myeloid leukemia.. | 1 |
['A', 'mutation', 'in', 'autosomal', 'dominant', 'myotonia', 'congenita', 'affects', 'pore', 'properties', 'of', 'the', 'muscle', 'chloride', 'channel', '.'] | [0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-764 | A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. | 1 |
['Autosomal', 'dominant', 'myotonia', 'congenita', 'is', 'an', 'inherited', 'disorder', 'of', 'skeletal', 'muscle', 'caused', 'by', 'mutations', 'in', 'a', 'voltage', '-', 'gated', 'Cl', '-', 'channel', 'gene', '(', 'CLCN1', ',', '7q35', ')', '.'] | [1, 2, 2, 2, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-765 | Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl-channel gene (CLCN1, 7q35). | 1 |
['Here', ',', 'we', 'report', 'that', 'a', 'mutation', 'predicting', 'the', 'substitution', 'of', 'Gly', '230', 'by', 'glutamic', 'acid', '(', 'G230E', ')', 'between', 'segments', 'D3', 'and', 'D4', 'dramatically', 'alters', 'the', 'pore', 'properties', 'of', 'a', 'recombinant', 'human', 'muscle', 'Cl', '-', 'channel', '(', 'hCIC', '-', '1', ')', 'expressed', 'in', 'a', 'mammalian', 'cell', 'line', '(', 'tsA201', ')', '.'] | [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0] | validation-766 | Here, we report that a mutation predicting the substitution of Gly 230 by glutamic acid (G230E) between segments D3 and D4 dramatically alters the pore properties of a recombinant human muscle Cl-channel (hCIC-1) expressed in a mammalian cell line (tsA201). | 0 |
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