Datasets:
nr2n23
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ncbi-disease-sequence-classification

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int64
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1
['A', 'spectrum', 'of', 'different', 'mutations', 'has', 'been', 'reported', 'in', 'this', 'disease', ',', 'one', 'missense', 'mutation', '(', 'Cys163Ser', ')', 'being', 'responsible', 'for', 'the', 'majority', 'of', 'Finnish', 'cases', '.']
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train-400
A spectrum of different mutations has been reported in this disease, one missense mutation (Cys163Ser) being responsible for the majority of Finnish cases.
0
['We', 'were', 'able', 'to', 'examine', '66', 'Finnish', 'AGU', 'patients', 'for', 'changes', 'in', 'the', 'oral', 'mucosa', 'and', '44', 'of', 'these', 'for', 'changes', 'in', 'facial', 'skin', '.']
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train-401
We were able to examine 66 Finnish AGU patients for changes in the oral mucosa and 44 of these for changes in facial skin.
1
['Biopsy', 'specimens', 'of', '16', 'oral', 'lesions', ',', '12', 'of', 'them', 'associated', 'with', 'the', 'teeth', ',', 'plus', 'two', 'facial', 'lesions', 'were', 'studied', 'histologically', '.']
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train-402
Biopsy specimens of 16 oral lesions, 12 of them associated with the teeth, plus two facial lesions were studied histologically.
1
['Immunohistochemical', 'staining', 'for', 'AGA', 'was', 'performed', 'on', '15', 'oral', 'specimens', '.']
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train-403
Immunohistochemical staining for AGA was performed on 15 oral specimens.
0
['Skin', 'was', 'seborrhoeic', 'in', 'adolescent', 'and', 'adult', 'patients', ',', 'with', 'erythema', 'of', 'the', 'facial', 'skin', 'already', 'common', 'in', 'childhood', '.']
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train-404
Skin was seborrhoeic in adolescent and adult patients, with erythema of the facial skin already common in childhood.
1
['Of', '44', 'patients', ',', 'nine', '(', '20', '%', ')', 'had', 'facial', 'angiofibromas', ',', 'tumours', 'primarily', 'occurring', 'in', 'association', 'with', 'tuberous', 'sclerosis', '.']
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train-405
Of 44 patients, nine (20%) had facial angiofibromas, tumours primarily occurring in association with tuberous sclerosis.
1
['Oedemic', 'buccal', 'mucosa', '(', 'leucoedema', ')', 'and', 'gingival', 'overgrowths', 'were', 'more', 'frequent', 'in', 'AGU', 'patients', 'than', 'in', 'controls', '(', 'p', '<', '0', '.', '001', ')', '.']
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train-406
Oedemic buccal mucosa (leucoedema) and gingival overgrowths were more frequent in AGU patients than in controls (p<0. 001).
1
['Of', '16', 'oral', 'mucosal', 'lesions', 'studied', 'histologically', ',', '15', 'represented', 'fibroepithelial', 'or', 'epithelial', 'hyperplasias', 'and', 'were', 'reactive', 'in', 'nature', '.']
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train-407
Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias and were reactive in nature.
1
['Cytoplasmic', 'vacuolisation', 'was', 'evident', 'in', 'four', '.']
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train-408
Cytoplasmic vacuolisation was evident in four.
0
['Immunohistochemically', ',', 'expression', 'of', 'AGA', 'in', 'AGU', 'patients', 'mucosal', 'lesions', 'did', 'not', 'differ', 'from', 'that', 'seen', 'in', 'corresponding', 'lesions', 'of', 'normal', 'subjects', '.']
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train-409
Immunohistochemically, expression of AGA in AGU patients mucosal lesions did not differ from that seen in corresponding lesions of normal subjects.
1
['Thus', ',', 'the', 'high', 'frequency', 'of', 'mucosal', 'overgrowth', 'in', 'AGU', 'patients', 'does', 'not', 'appear', 'to', 'be', 'directly', 'associated', 'with', 'lysosomal', 'storage', 'or', 'with', 'alterations', 'in', 'the', 'level', 'of', 'AGA', 'expression', '.']
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train-410
Thus, the high frequency of mucosal overgrowth in AGU patients does not appear to be directly associated with lysosomal storage or with alterations in the level of AGA expression.
1
['Characterization', 'of', 'a', 'germline', 'mosaicism', 'in', 'families', 'with', 'Lowe', 'syndrome', ',', 'and', 'identification', 'of', 'seven', 'novel', 'mutations', 'in', 'the', 'OCRL1', 'gene', '.']
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train-411
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
1
['The', 'oculocerebrorenal', 'syndrome', 'of', 'Lowe', '(', 'OCRL', ')', 'is', 'an', 'X', '-', 'linked', 'disorder', 'characterized', 'by', 'major', 'abnormalities', 'of', 'eyes', ',', 'nervous', 'system', ',', 'and', 'kidneys', '.']
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train-412
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys.
1
['Mutations', 'in', 'the', 'OCRL1', 'gene', 'have', 'been', 'associated', 'with', 'the', 'disease', '.']
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train-413
Mutations in the OCRL1 gene have been associated with the disease.
0
['OCRL1', 'encodes', 'a', 'phosphatidylinositol', '4', ',', '5', '-', 'biphosphate', '(', 'PtdIns', '[', '4', ',', '5', ']', 'P2', ')', '5', '-', 'phosphatase', '.']
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train-414
OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase.
0
['We', 'have', 'examined', 'the', 'OCRL1', 'gene', 'in', 'eight', 'unrelated', 'patients', 'with', 'OCRL', 'and', 'have', 'found', 'seven', 'new', 'mutations', 'and', 'one', 'recurrent', 'in', '-', 'frame', 'deletion', '.']
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train-415
We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion.
1
['Among', 'the', 'new', 'mutations', ',', 'two', 'nonsense', 'mutations', '(', 'R317X', 'and', 'E558X', ')', 'and', 'three', 'other', 'frameshift', 'mutations', 'caused', 'premature', 'termination', 'of', 'the', 'protein', '.']
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train-416
Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein.
0
['A', 'missense', 'mutation', ',', 'R483G', ',', 'was', 'located', 'in', 'the', 'highly', 'conserved', 'PtdIns', '(', '4', ',', '5', ')', 'P2', '5', '-', 'phosphatase', 'domain', '.']
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train-417
A missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain.
0
['Finally', ',', 'one', 'frameshift', 'mutation', ',', '2799delC', ',', 'modifies', 'the', 'C', '-', 'terminal', 'part', 'of', 'OCRL1', ',', 'with', 'an', 'extension', 'of', 'six', 'amino', 'acids', '.']
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train-418
Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids.
0
['Altogether', ',', '70', '%', 'of', 'missense', 'mutations', 'are', 'located', 'in', 'exon', '15', ',', 'and', '52', '%', 'of', 'all', 'mutations', 'cluster', 'in', 'exons', '11', '-', '15', '.']
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train-419
Altogether, 70% of missense mutations are located in exon 15, and 52% of all mutations cluster in exons 11-15.
0
['We', 'also', 'identified', 'two', 'new', 'microsatellite', 'markers', 'for', 'the', 'OCRL1', 'locus', ',', 'and', 'we', 'detected', 'a', 'germline', 'mosaicism', 'in', 'one', 'family', '.']
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train-420
We also identified two new microsatellite markers for the OCRL1 locus, and we detected a germline mosaicism in one family.
0
['This', 'observation', 'has', 'direct', 'implications', 'for', 'genetic', 'counseling', 'of', 'Lowe', 'syndrome', 'families', '.', '.']
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train-421
This observation has direct implications for genetic counseling of Lowe syndrome families..
1
['MEFV', '-', 'Gene', 'analysis', 'in', 'armenian', 'patients', 'with', 'Familial', 'Mediterranean', 'fever', ':', 'diagnostic', 'value', 'and', 'unfavorable', 'renal', 'prognosis', 'of', 'the', 'M694V', 'homozygous', 'genotype', '-', 'genetic', 'and', 'therapeutic', 'implications', '.']
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train-422
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever:diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
1
['Familial', 'Mediterranean', 'fever', '(', 'FMF', ')', 'is', 'a', 'recessively', 'inherited', 'disorder', 'that', 'is', 'common', 'in', 'patients', 'of', 'Armenian', 'ancestry', '.']
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train-423
Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry.
1
['To', 'date', ',', 'its', 'diagnosis', ',', 'which', 'can', 'be', 'made', 'only', 'retrospectively', ',', 'is', 'one', 'of', 'exclusion', ',', 'based', 'entirely', 'on', 'nonspecific', 'clinical', 'signs', 'that', 'result', 'from', 'serosal', 'inflammation', 'and', 'that', 'may', 'lead', 'to', 'unnecessary', 'surgery', '.']
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train-424
To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessary surgery.
1
['Renal', 'amyloidosis', ',', 'prevented', 'by', 'colchicine', ',', 'is', 'the', 'most', 'severe', 'complication', 'of', 'FMF', ',', 'a', 'disorder', 'associated', 'with', 'mutations', 'in', 'the', 'MEFV', 'gene', '.']
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train-425
Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene.
1
['To', 'evaluate', 'the', 'diagnostic', 'and', 'prognostic', 'value', 'of', 'MEFV', '-', 'gene', 'analysis', ',', 'we', 'investigated', '90', 'Armenian', 'FMF', 'patients', 'from', '77', 'unrelated', 'families', 'that', 'were', 'not', 'selected', 'through', 'genetic', '-', 'linkage', 'analysis', '.']
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train-426
To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis.
1
['Eight', 'mutations', ',', 'one', 'of', 'which', '(', 'R408Q', ')', 'is', 'new', ',', 'were', 'found', 'to', 'account', 'for', '93', '%', 'of', 'the', '163', 'independent', 'FMF', 'alleles', ',', 'with', 'both', 'FMF', 'alleles', 'identified', 'in', '89', '%', 'of', 'the', 'patients', '.']
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train-427
Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients.
1
['In', 'several', 'instances', ',', 'family', 'studies', 'provided', 'molecular', 'evidence', 'for', 'pseudodominant', 'transmission', 'and', 'incomplete', 'penetrance', 'of', 'the', 'disease', 'phenotype', '.']
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train-428
In several instances, family studies provided molecular evidence for pseudodominant transmission and incomplete penetrance of the disease phenotype.
0
['The', 'M694V', 'homozygous', 'genotype', 'was', 'found', 'to', 'be', 'associated', 'with', 'a', 'higher', 'prevalence', 'of', 'renal', 'amyloidosis', 'and', 'arthritis', ',', 'compared', 'with', 'other', 'genotypes', '(', 'P', '=', '.', '0002', 'and', 'P', '=', '.', '006', ',', 'respectively', ')', '.']
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train-429
The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P =. 0002 and P =. 006, respectively).
1
['The', 'demonstration', 'of', 'both', 'the', 'diagnostic', 'and', 'prognostic', 'value', 'of', 'MEFV', 'analysis', 'and', 'particular', 'modes', 'of', 'inheritance', 'should', 'lead', 'to', 'new', 'ways', 'for', 'management', 'of', 'FMF', '-', 'including', 'genetic', 'counseling', 'and', 'therapeutic', 'decisions', 'in', 'affected', 'families', '.']
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train-430
The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.
0
['Noninvasive', 'test', 'for', 'fragile', 'X', 'syndrome', ',', 'using', 'hair', 'root', 'analysis', '.']
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train-431
Noninvasive test for fragile X syndrome, using hair root analysis.
1
['Identification', 'of', 'the', 'FMR1', 'gene', 'and', 'the', 'repeat', '-', 'amplification', 'mechanism', 'causing', 'fragile', 'X', 'syndrome', 'led', 'to', 'development', 'of', 'reliable', 'DNA', '-', 'based', 'diagnostic', 'methods', ',', 'including', 'Southern', 'blot', 'hybridization', 'and', 'PCR', '.']
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train-432
Identification of the FMR1 gene and the repeat-amplification mechanism causing fragile X syndrome led to development of reliable DNA-based diagnostic methods, including Southern blot hybridization and PCR.
1
['Both', 'methods', 'are', 'performed', 'on', 'DNA', 'isolated', 'from', 'peripheral', 'blood', 'cells', 'and', 'measure', 'the', 'repeat', 'size', 'in', 'FMR1', '.']
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train-433
Both methods are performed on DNA isolated from peripheral blood cells and measure the repeat size in FMR1.
0
['Using', 'an', 'immunocytochemical', 'technique', 'on', 'blood', 'smears', ',', 'we', 'recently', 'developed', 'a', 'novel', 'test', 'for', 'identification', 'of', 'patients', 'with', 'fragile', 'X', 'syndrome', '.']
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train-434
Using an immunocytochemical technique on blood smears, we recently developed a novel test for identification of patients with fragile X syndrome.
1
['This', 'method', ',', 'also', 'called', '"', 'antibody', 'test', ',', '"', 'uses', 'monoclonal', 'antibodies', 'against', 'the', 'FMR1', 'gene', 'product', '(', 'FMRP', ')', 'and', 'is', 'based', 'on', 'absence', 'of', 'FMRP', 'in', 'patients', 'cells', '.']
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train-435
This method, also called " antibody test, " uses monoclonal antibodies against the FMR1 gene product (FMRP) and is based on absence of FMRP in patients cells.
0
['Here', 'we', 'describe', 'a', 'new', 'diagnostic', 'test', 'to', 'identify', 'male', 'patients', 'with', 'fragile', 'X', 'syndrome', ',', 'on', 'the', 'basis', 'of', 'lack', 'of', 'FMRP', 'in', 'their', 'hair', 'roots', '.']
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train-436
Here we describe a new diagnostic test to identify male patients with fragile X syndrome, on the basis of lack of FMRP in their hair roots.
1
['Expression', 'of', 'FMRP', 'in', 'hair', 'roots', 'was', 'studied', 'by', 'use', 'of', 'an', 'FMRP', '-', 'specific', 'antibody', 'test', ',', 'and', 'the', 'percentage', 'of', 'FMRP', '-', 'expressing', 'hair', 'roots', 'in', 'controls', 'and', 'in', 'male', 'fragile', 'X', 'patients', 'was', 'determined', '.']
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train-437
Expression of FMRP in hair roots was studied by use of an FMRP-specific antibody test, and the percentage of FMRP-expressing hair roots in controls and in male fragile X patients was determined.
1
['Control', 'individuals', 'showed', 'clear', 'expression', 'of', 'FMRP', 'in', 'nearly', 'every', 'hair', 'root', ',', 'whereas', 'male', 'fragile', 'X', 'patients', 'lacked', 'expression', 'of', 'FMRP', 'in', 'almost', 'all', 'their', 'hair', 'roots', '.']
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train-438
Control individuals showed clear expression of FMRP in nearly every hair root, whereas male fragile X patients lacked expression of FMRP in almost all their hair roots.
1
['Mentally', 'retarded', 'female', 'patients', 'with', 'a', 'full', 'mutation', 'showed', 'FMRP', 'expression', 'in', 'only', 'some', 'of', 'their', 'hair', 'roots', '(', '<', '55', '%', ')', ',', 'and', 'no', 'overlap', 'with', 'normal', 'female', 'controls', 'was', 'observed', '.']
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train-439
Mentally retarded female patients with a full mutation showed FMRP expression in only some of their hair roots (< 55%), and no overlap with normal female controls was observed.
1
['The', 'advantages', 'of', 'this', 'test', 'are', '(', '1', ')', 'plucking', 'of', 'hair', 'follicles', 'does', 'no', 'appreciable', 'harm', 'to', 'the', 'mentally', 'retarded', 'patient', ',', '(', '2', ')', 'hairs', 'can', 'be', 'sent', 'in', 'a', 'simple', 'envelope', 'to', 'a', 'diagnostic', 'center', ',', 'and', '(', '3', ')', 'the', 'result', 'of', 'the', 'test', 'is', 'available', 'within', '5', 'h', 'of', 'plucking', '.']
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train-440
The advantages of this test are (1) plucking of hair follicles does no appreciable harm to the mentally retarded patient, (2) hairs can be sent in a simple envelope to a diagnostic center, and (3) the result of the test is available within 5 h of plucking.
1
['In', 'addition', ',', 'this', 'test', 'enabled', 'us', 'to', 'identify', 'two', 'fragile', 'X', 'patients', 'who', 'did', 'not', 'show', 'the', 'full', 'mutation', 'by', 'analysis', 'of', 'DNA', 'isolated', 'from', 'blood', 'cells', '.', '.']
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train-441
In addition, this test enabled us to identify two fragile X patients who did not show the full mutation by analysis of DNA isolated from blood cells..
1
['In', 'Swedish', 'families', 'with', 'hereditary', 'prostate', 'cancer', ',', 'linkage', 'to', 'the', 'HPC1', 'locus', 'on', 'chromosome', '1q24', '-', '25', 'is', 'restricted', 'to', 'families', 'with', 'early', '-', 'onset', 'prostate', 'cancer', '.']
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train-442
In Swedish families with hereditary prostate cancer, linkage to the HPC1 locus on chromosome 1q24-25 is restricted to families with early-onset prostate cancer.
1
['Prostate', 'cancer', 'clusters', 'in', 'some', 'families', ',', 'and', 'an', 'estimated', '5', '%', '-', '10', '%', 'of', 'all', 'cases', 'are', 'estimated', 'to', 'result', 'from', 'inheritance', 'of', 'prostate', 'cancer', '-', 'susceptibility', 'genes', '.']
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train-443
Prostate cancer clusters in some families, and an estimated 5%-10% of all cases are estimated to result from inheritance of prostate cancer-susceptibility genes.
1
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train-444
We previously reported evidence of linkage to the 1q24-25 region (HPC1) in 91 North American and Swedish families each with multiple cases of prostate cancer (Smith et al. 1996).
1
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train-445
In the present report we analyze 40 (12 original and 28 newly identified) Swedish families with hereditary prostate cancer (HPC) that, on the basis of 40 markers spanning a 25-cM interval within 1q24-25, have evidence of linkage.
1
['In', 'the', 'complete', 'set', 'of', 'families', ',', 'a', 'maximum', 'two', '-', 'point', 'LOD', 'score', 'of', '1', '.']
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train-446
In the complete set of families, a maximum two-point LOD score of 1.
0
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train-447
10 was observed at D1S413 (at a recombination fraction [theta] of. 1), with a maximum NPL (nonparametric linkage) Z score of 1.
0
['64', 'at', 'D1S202', '(', 'P', '=', '.', '05', ')', '.']
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train-448
64 at D1S202 (P =. 05).
0
['The', 'evidence', 'of', 'linkage', 'to', 'this', 'region', 'originated', 'almost', 'exclusively', 'from', 'the', 'subset', 'of', '12', 'early', '-', 'onset', '(', 'age', '<', '65', 'years', ')', 'families', ',', 'which', 'yielded', 'a', 'maximum', 'LOD', 'score', 'of', '2', '.']
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train-449
The evidence of linkage to this region originated almost exclusively from the subset of 12 early-onset (age<65 years) families, which yielded a maximum LOD score of 2.
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['38', 'at', 'D1S413', '(', 'straight', 'theta', '=', '0', ')', 'and', 'an', 'NPL', 'Z', 'score', 'of', '1', '.']
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train-450
38 at D1S413 (straight theta=0) and an NPL Z score of 1.
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['95', 'at', 'D1S422', '(', 'P', '=', '.', '03', ')', '.']
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train-451
95 at D1S422 (P =. 03).
0
['Estimates', 'from', 'heterogeneity', 'tests', 'suggest', 'that', ',', 'within', 'Sweden', ',', 'as', 'many', 'as', '50', '%', 'of', 'early', '-', 'onset', 'families', 'had', 'evidence', 'of', 'linkage', 'to', 'the', 'HPC1', 'region', '.']
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train-452
Estimates from heterogeneity tests suggest that, within Sweden, as many as 50% of early-onset families had evidence of linkage to the HPC1 region.
0
['These', 'results', 'are', 'consistent', 'with', 'the', 'hypothesis', 'of', 'linkage', 'to', 'HPC1', 'in', 'a', 'subset', 'of', 'families', 'with', 'prostate', 'cancer', ',', 'particularly', 'those', 'with', 'an', 'early', 'age', 'at', 'diagnosis', '.']
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train-453
These results are consistent with the hypothesis of linkage to HPC1 in a subset of families with prostate cancer, particularly those with an early age at diagnosis.
1
['Molecular', 'basis', 'of', 'feline', 'beta', '-', 'glucuronidase', 'deficiency', ':', 'an', 'animal', 'model', 'of', 'mucopolysaccharidosis', 'VII', '.']
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train-454
Molecular basis of feline beta-glucuronidase deficiency:an animal model of mucopolysaccharidosis VII.
1
['A', 'family', 'of', 'domestic', 'cats', 'was', 'found', 'that', 'exhibited', 'clinical', 'and', 'biochemical', 'abnormalities', 'consistent', 'with', 'mucopolysaccharidosis', 'VII', ',', 'an', 'autosomal', 'recessive', 'lysosomal', 'storage', 'disorder', 'caused', 'by', 'beta', '-', 'glucuronidase', 'deficiency', '.']
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train-455
A family of domestic cats was found that exhibited clinical and biochemical abnormalities consistent with mucopolysaccharidosis VII, an autosomal recessive lysosomal storage disorder caused by beta-glucuronidase deficiency.
1
['beta', '-', 'Glucuronidase', 'activity', 'was', 'undetectable', 'in', 'affected', 'cat', 'fibroblasts', 'and', 'restored', 'by', 'retroviral', 'gene', 'transfer', 'of', 'rat', 'beta', '-', 'glucuronidase', 'cDNA', '.']
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train-456
beta-Glucuronidase activity was undetectable in affected cat fibroblasts and restored by retroviral gene transfer of rat beta-glucuronidase cDNA.
0
['beta', '-', 'Glucuronidase', 'mRNA', 'was', 'normal', 'in', 'affected', 'cat', 'testis', 'by', 'Northern', 'blot', 'analysis', '.']
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train-457
beta-Glucuronidase mRNA was normal in affected cat testis by Northern blot analysis.
0
['Normal', 'feline', 'beta', '-', 'glucuronidase', 'cDNA', 'was', 'cloned', 'and', 'characterized', ',', 'and', 'amplified', 'from', 'affected', 'cat', 'fibroblasts', 'by', 'reverse', 'transcription', 'coupled', 'polymerase', 'chain', 'reaction', '.']
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train-458
Normal feline beta-glucuronidase cDNA was cloned and characterized, and amplified from affected cat fibroblasts by reverse transcription coupled polymerase chain reaction.
0
['There', 'was', 'a', 'G', '-', 'to', '-', 'A', 'transition', 'in', 'the', 'affected', 'cat', 'cDNA', 'that', 'predicted', 'an', 'E351K', 'substitution', ',', 'destroyed', 'a', 'BssSI', 'site', ',', 'and', 'eliminated', 'GUSB', 'enzymatic', 'activity', 'in', 'expression', 'studies', '.']
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train-459
There was a G-to-A transition in the affected cat cDNA that predicted an E351K substitution, destroyed a BssSI site, and eliminated GUSB enzymatic activity in expression studies.
0
['Multiple', 'species', 'comparison', 'and', 'the', 'crystal', 'structure', 'of', 'human', 'beta', '-', 'glucuronidase', 'indicated', 'that', 'E351', 'is', 'a', 'highly', 'conserved', 'residue', 'most', 'likely', 'essential', 'in', 'maintenance', 'of', 'the', 'enzymes', 'conformation', '.']
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train-460
Multiple species comparison and the crystal structure of human beta-glucuronidase indicated that E351 is a highly conserved residue most likely essential in maintenance of the enzymes conformation.
0
['BssSI', 'digestion', 'of', 'polymerase', 'chain', 'reaction', 'products', 'amplified', 'from', 'genomic', 'DNA', 'indicated', 'that', 'affected', 'cats', 'were', 'homozygous', 'and', 'cats', 'with', 'half', '-', 'normal', 'beta', '-', 'glucuronidase', 'activity', 'were', 'heterozygous', 'for', 'the', 'missense', 'mutation', '.']
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train-461
BssSI digestion of polymerase chain reaction products amplified from genomic DNA indicated that affected cats were homozygous and cats with half-normal beta-glucuronidase activity were heterozygous for the missense mutation.
0
['Carriers', 'identified', 'in', 'this', 'manner', 'produced', 'affected', 'kittens', 'in', 'prospective', 'breedings', ',', 'and', 'a', 'feline', 'MPS', 'VII', 'breeding', 'colony', 'has', 'been', 'established', '.', '.']
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train-462
Carriers identified in this manner produced affected kittens in prospective breedings, and a feline MPS VII breeding colony has been established..
1
['A', 'common', 'molecular', 'basis', 'for', 'rearrangement', 'disorders', 'on', 'chromosome', '22q11', '.']
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train-463
A common molecular basis for rearrangement disorders on chromosome 22q11.
1
['The', 'chromosome', '22q11', 'region', 'is', 'susceptible', 'to', 'rearrangements', 'that', 'are', 'associated', 'with', 'congenital', 'anomaly', 'disorders', 'and', 'malignant', 'tumors', '.']
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train-464
The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors.
1
['Three', 'congenital', 'anomaly', 'disorders', ',', 'cat', '-', 'eye', 'syndrome', ',', 'der', '(', ')', 'syndrome', 'and', 'velo', '-', 'cardio', '-', 'facial', 'syndrome', '/', 'DiGeorge', 'syndrome', '(', 'VCFS', '/', 'DGS', ')', 'are', 'associated', 'with', 'tetrasomy', ',', 'trisomy', 'or', 'monosomy', ',', 'respectively', ',', 'for', 'part', 'of', 'chromosome', '22q11', '.']
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train-465
Three congenital anomaly disorders, cat-eye syndrome, der () syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.
1
['VCFS', '/', 'DGS', 'is', 'the', 'most', 'common', 'syndrome', 'associated', 'with', '22q11', 'rearrangements', '.']
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train-466
VCFS/DGS is the most common syndrome associated with 22q11 rearrangements.
1
['In', 'order', 'to', 'determine', 'whether', 'there', 'are', 'particular', 'regions', 'on', '22q11', 'that', 'are', 'prone', 'to', 'rearrangements', ',', 'the', 'deletion', 'end', '-', 'points', 'in', 'a', 'large', 'number', 'of', 'VCFS', '/', 'DGS', 'patients', 'were', 'defined', 'by', 'haplotype', 'analysis', '.']
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train-467
In order to determine whether there are particular regions on 22q11 that are prone to rearrangements, the deletion end-points in a large number of VCFS/DGS patients were defined by haplotype analysis.
1
['Most', 'VCFS', '/', 'DGS', 'patients', 'have', 'a', 'similar', '3', 'Mb', 'deletion', ',', 'some', 'have', 'a', 'nested', 'distal', 'deletion', 'breakpoint', 'resulting', 'in', 'a', '1', '.']
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train-468
Most VCFS/DGS patients have a similar 3 Mb deletion, some have a nested distal deletion breakpoint resulting in a 1.
1
['5', 'Mb', 'deletion', 'and', 'a', 'few', 'rare', 'patients', 'have', 'unique', 'deletions', 'or', 'translocations', '.']
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train-469
5 Mb deletion and a few rare patients have unique deletions or translocations.
0
['The', 'high', 'prevalence', 'of', 'the', 'disorder', 'in', 'the', 'population', 'and', 'the', 'fact', 'that', 'most', 'cases', 'occur', 'sporadically', 'suggest', 'that', 'sequences', 'at', 'or', 'near', 'the', 'breakpoints', 'confer', 'susceptibility', 'to', 'chromosome', 'rearrangements', '.']
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train-470
The high prevalence of the disorder in the population and the fact that most cases occur sporadically suggest that sequences at or near the breakpoints confer susceptibility to chromosome rearrangements.
0
['To', 'investigate', 'this', 'hypothesis', ',', 'we', 'developed', 'hamster', '-', 'human', 'somatic', 'hybrid', 'cell', 'lines', 'from', 'VCFS', '/', 'DGS', 'patients', 'with', 'all', 'three', 'classes', 'of', 'deletions', 'and', 'we', 'now', 'show', 'that', 'the', 'breakpoints', 'occur', 'within', 'similar', 'low', 'copy', 'repeats', ',', 'termed', 'LCR22s', '.']
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train-471
To investigate this hypothesis, we developed hamster-human somatic hybrid cell lines from VCFS/DGS patients with all three classes of deletions and we now show that the breakpoints occur within similar low copy repeats, termed LCR22s.
1
['To', 'support', 'this', 'idea', 'further', ',', 'we', 'identified', 'a', 'family', 'that', 'carries', 'an', 'interstitial', 'duplication', 'of', 'the', 'same', '3', 'Mb', 'region', 'that', 'is', 'deleted', 'in', 'VCFS', '/', 'DGS', 'patients', '.']
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train-472
To support this idea further, we identified a family that carries an interstitial duplication of the same 3 Mb region that is deleted in VCFS/DGS patients.
1
['We', 'present', 'models', 'to', 'explain', 'how', 'the', 'LCR22s', 'can', 'mediate', 'different', 'homologous', 'recombination', 'events', ',', 'thereby', 'generating', 'a', 'number', 'of', 'rearrangements', 'that', 'are', 'associated', 'with', 'congenital', 'anomaly', 'disorders', '.']
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train-473
We present models to explain how the LCR22s can mediate different homologous recombination events, thereby generating a number of rearrangements that are associated with congenital anomaly disorders.
1
['We', 'identified', 'five', 'additional', 'copies', 'of', 'the', 'LCR22', 'on', '22q11', 'that', 'may', 'mediate', 'other', 'rearrangements', 'leading', 'to', 'disease', '.']
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train-474
We identified five additional copies of the LCR22 on 22q11 that may mediate other rearrangements leading to disease.
0
['Functional', 'consequences', 'of', 'mutations', 'in', 'the', 'early', 'growth', 'response', '2', 'gene', '(', 'EGR2', ')', 'correlate', 'with', 'severity', 'of', 'human', 'myelinopathies', '.']
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train-475
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
1
['The', 'early', 'growth', 'response', '2', 'gene', '(', 'EGR2', ')', 'is', 'a', 'Cys2His2zinc', 'finger', 'transcription', 'factor', 'which', 'is', 'thought', 'to', 'play', 'a', 'role', 'in', 'the', 'regulation', 'of', 'peripheral', 'nervous', 'system', 'myelination', '.']
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train-476
The early growth response 2 gene (EGR2) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination.
0
['This', 'idea', 'is', 'based', 'partly', 'on', 'the', 'phenotype', 'of', 'homozygous', 'Krox20', '(', 'Egr2', ')', 'knockout', 'mice', ',', 'which', 'display', 'hypomyelination', 'of', 'the', 'PNS', 'and', 'a', 'block', 'of', 'Schwann', 'cells', 'at', 'an', 'early', 'stage', 'of', 'differentiation', '.']
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train-477
This idea is based partly on the phenotype of homozygous Krox20 (Egr2) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells at an early stage of differentiation.
1
['Mutations', 'in', 'the', 'human', 'EGR2', 'gene', 'have', 'recently', 'been', 'associated', 'with', 'the', 'inherited', 'peripheral', 'neuropathies', 'Charcot', '-', 'Marie', '-', 'Tooth', 'type', '1', ',', 'Dejerine', '-', 'Sottas', 'syndrome', 'and', 'congenital', 'hypomyelinating', 'neuropathy', '.']
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train-478
Mutations in the human EGR2 gene have recently been associated with the inherited peripheral neuropathies Charcot-Marie-Tooth type 1, Dejerine-Sottas syndrome and congenital hypomyelinating neuropathy.
1
['Three', 'of', 'the', 'four', 'EGR2', 'mutations', 'are', 'dominant', 'and', 'occur', 'within', 'the', 'zinc', 'finger', 'DNA', '-', 'binding', 'domain', '.']
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train-479
Three of the four EGR2 mutations are dominant and occur within the zinc finger DNA-binding domain.
0
['The', 'fourth', 'mutation', 'is', 'recessive', 'and', 'affects', 'the', 'inhibitory', 'domain', '(', 'R1', ')', 'that', 'binds', 'the', 'NAB', 'transcriptional', 'co', '-', 'repressors', '.']
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train-480
The fourth mutation is recessive and affects the inhibitory domain (R1) that binds the NAB transcriptional co-repressors.
0
['A', 'combination', 'of', 'DNA', '-', 'binding', 'assays', 'and', 'transcriptional', 'analysis', 'was', 'used', 'to', 'determine', 'the', 'functional', 'consequences', 'of', 'these', 'mutations', '.']
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train-481
A combination of DNA-binding assays and transcriptional analysis was used to determine the functional consequences of these mutations.
0
['The', 'zinc', 'finger', 'mutations', 'affect', 'DNA', 'binding', 'and', 'the', 'amount', 'of', 'residual', 'binding', 'directly', 'correlates', 'with', 'disease', 'severity', '.']
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train-482
The zinc finger mutations affect DNA binding and the amount of residual binding directly correlates with disease severity.
0
['The', 'R1', 'domain', 'mutation', 'prevents', 'interaction', 'of', 'EGR2', 'with', 'the', 'NAB', 'co', '-', 'repressors', 'and', 'thereby', 'increases', 'transcriptional', 'activity', '.']
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train-483
The R1 domain mutation prevents interaction of EGR2 with the NAB co-repressors and thereby increases transcriptional activity.
0
['These', 'data', 'provide', 'insight', 'into', 'the', 'possible', 'disease', 'mechanisms', 'underlying', 'EGR2', 'mutations', 'and', 'the', 'reason', 'for', 'varying', 'severity', 'and', 'differences', 'in', 'inheritance', 'patterns', '.', '.']
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train-484
These data provide insight into the possible disease mechanisms underlying EGR2 mutations and the reason for varying severity and differences in inheritance patterns..
0
['Autosomal', 'recessive', 'familial', 'neurohypophyseal', 'diabetes', 'insipidus', 'with', 'continued', 'secretion', 'of', 'mutant', 'weakly', 'active', 'vasopressin', '.']
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train-485
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.
1
['Familial', 'neurohypophyseal', 'diabetes', 'insipidus', 'is', 'an', 'autosomal', 'dominant', 'disorder', 'characterized', 'by', 'post', '-', 'natal', 'development', 'of', 'arginine', 'vasopressin', '(', 'AVP', ')', 'deficiency', 'due', 'to', 'mutations', 'in', 'the', 'AVP', 'gene', '.']
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train-486
Familial neurohypophyseal diabetes insipidus is an autosomal dominant disorder characterized by post-natal development of arginine vasopressin (AVP) deficiency due to mutations in the AVP gene.
1
['All', 'published', 'mutations', 'affect', 'the', 'signal', 'peptide', 'or', 'the', 'neurophysin', '-', 'II', 'carrier', 'protein', 'and', 'are', 'presumed', 'to', 'interfere', 'with', 'processing', 'of', 'the', 'preprohormone', ',', 'leading', 'to', 'neuronal', 'damage', '.']
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train-487
All published mutations affect the signal peptide or the neurophysin-II carrier protein and are presumed to interfere with processing of the preprohormone, leading to neuronal damage.
1
['We', 'studied', 'an', 'unusual', 'Palestinian', 'family', 'consisting', 'of', 'asymptomatic', 'first', 'cousin', 'parents', 'and', 'three', 'children', 'affected', 'with', 'neurohypophyseal', 'diabetes', 'insipidus', ',', 'suggesting', 'autosomal', 'recessive', 'inheritance', '.']
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train-488
We studied an unusual Palestinian family consisting of asymptomatic first cousin parents and three children affected with neurohypophyseal diabetes insipidus, suggesting autosomal recessive inheritance.
1
['All', 'three', 'affected', 'children', 'were', 'homozygous', 'and', 'the', 'parents', 'heterozygous', 'for', 'a', 'single', 'novel', 'mutation', '(', 'C301', '-', '>', 'T', ')', 'in', 'exon', '1', ',', 'replacing', 'Pro7', 'of', 'mature', 'AVP', 'with', 'Leu', '(', 'Leu', '-', 'AVP', ')', '.']
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train-489
All three affected children were homozygous and the parents heterozygous for a single novel mutation (C301-> T) in exon 1, replacing Pro7 of mature AVP with Leu (Leu-AVP).
0
['Leu', '-', 'AVP', 'was', 'a', 'weak', 'agonist', 'with', 'approximately', '30', '-', 'fold', 'reduced', 'binding', 'to', 'the', 'human', 'V2', 'receptor', '.']
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train-490
Leu-AVP was a weak agonist with approximately 30-fold reduced binding to the human V2 receptor.
0
['Measured', 'by', 'radioimmunoassay', 'with', 'a', 'synthetic', 'Leu', '-', 'AVP', 'standard', ',', 'serum', 'Leu', '-', 'AVP', 'levels', 'were', 'elevated', 'in', 'all', 'three', 'children', 'and', 'further', 'increased', 'during', 'water', 'deprivation', 'to', 'as', 'high', 'as', '30', 'times', 'normal', '.']
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train-491
Measured by radioimmunoassay with a synthetic Leu-AVP standard, serum Leu-AVP levels were elevated in all three children and further increased during water deprivation to as high as 30 times normal.
0
['The', 'youngest', 'child', '(', '2', 'years', 'old', ')', 'was', 'only', 'mildly', 'affected', 'but', 'had', 'Leu', '-', 'AVP', 'levels', 'similar', 'to', 'her', 'severely', 'affected', '8', '-', 'year', '-', 'old', 'brother', ',', 'suggesting', 'that', 'unknown', 'mechanisms', 'may', 'partially', 'compensate', 'for', 'a', 'deficiency', 'of', 'active', 'AVP', 'in', 'very', 'young', 'children', '.', '.']
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train-492
The youngest child (2 years old) was only mildly affected but had Leu-AVP levels similar to her severely affected 8-year-old brother, suggesting that unknown mechanisms may partially compensate for a deficiency of active AVP in very young children..
1
['X', 'inactivation', 'and', 'somatic', 'cell', 'selection', 'rescue', 'female', 'mice', 'carrying', 'a', 'Piga', '-', 'null', 'mutation', '.']
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train-493
X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation.
0
['A', 'somatic', 'mutation', 'in', 'the', 'X', 'linked', 'PIGA', 'gene', 'is', 'responsible', 'for', 'the', 'deficiency', 'of', 'glycosyl', 'phosphatidylinositol', '(', 'GPI', ')', '-', 'anchored', 'proteins', 'on', 'blood', 'cells', 'from', 'patients', 'with', 'paroxysmal', 'nocturnal', 'hemoglobinuria', '.']
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train-494
A somatic mutation in the X linked PIGA gene is responsible for the deficiency of glycosyl phosphatidylinositol (GPI)-anchored proteins on blood cells from patients with paroxysmal nocturnal hemoglobinuria.
1
['No', 'inherited', 'form', 'of', 'GPI', '-', 'anchor', 'deficiency', 'has', 'been', 'described', '.']
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train-495
No inherited form of GPI-anchor deficiency has been described.
1
['Because', 'conventional', 'Piga', 'gene', 'knockout', 'is', 'associated', 'with', 'high', 'embryonic', 'lethality', 'in', 'chimeric', 'mice', ',', 'we', 'used', 'the', 'Cre', '/', 'loxP', 'system', '.']
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train-496
Because conventional Piga gene knockout is associated with high embryonic lethality in chimeric mice, we used the Cre/loxP system.
1
['We', 'generated', 'mice', 'in', 'which', 'two', 'loxP', 'sites', 'flank', 'part', 'of', 'Piga', 'exon', '2', '.']
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train-497
We generated mice in which two loxP sites flank part of Piga exon 2.
0
['After', 'crossbreeding', 'with', 'female', 'mice', 'of', 'the', 'EIIa', '-', 'cre', 'strain', ',', 'the', 'floxed', 'allele', 'undergoes', 'Cre', '-', 'mediated', 'recombination', 'with', 'high', 'efficiency', 'during', 'early', 'embryonic', 'development', '.']
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train-498
After crossbreeding with female mice of the EIIa-cre strain, the floxed allele undergoes Cre-mediated recombination with high efficiency during early embryonic development.
0
['Because', 'of', 'X', 'chromosome', 'inactivation', ',', 'female', 'offspring', 'are', 'mosaic', 'for', 'cells', 'that', 'express', 'or', 'lack', 'GPI', '-', 'linked', 'proteins', '.']
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train-499
Because of X chromosome inactivation, female offspring are mosaic for cells that express or lack GPI-linked proteins.
0