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PubMed:21080147 JSONTXT 28 Projects

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Id Subject Object Predicate Lexical cue
T1 0-76 Sentence denotes Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
T2 77-88 Sentence denotes BACKGROUND:
T3 89-262 Sentence denotes Atrioventricular septal defects (AVSDs) occur as clinical defects of several different syndromes, as autosomal dominant defects, and as sporadically occurring malformations.
T4 263-399 Sentence denotes Consequently, there is genetic heterogeneity, but until recently, little is known about the genes involving in the pathogenesis of AVSD.
T5 400-474 Sentence denotes CRELD1 gene, a novel cell adhesion molecule, is a candidate gene for AVSD.
T6 475-483 Sentence denotes METHODS:
T7 484-552 Sentence denotes This study included 133 patients with AVSD and 200 healthy controls.
T8 553-643 Sentence denotes Peripheral blood samples were collected and genomic DNA was extracted from the leukocytes.
T9 644-722 Sentence denotes CRELD1 was amplified by polymerase chain reaction (PCR) with specific primers.
T10 723-801 Sentence denotes The sequences of PCR products were compared between the patients and controls.
T11 802-810 Sentence denotes RESULTS:
T12 811-1001 Sentence denotes In a patient, a C-to-G transition was identified at nucleotide 857 in exon 8 that resulted in a substitution of alanine for proline at amino acid 286 in the first calcium-binding EGF domain.
T13 1002-1091 Sentence denotes This patient had an isolated partial AVSD and the mutation was inherited from her mother.
T14 1092-1185 Sentence denotes Another mutation was detected in a patient with a partial AVSD and evidence of Down syndrome.
T15 1186-1355 Sentence denotes The heterozygous c.973G>A transition in exon 9 resulted in a substitution of lysine for glutamic acid at amino acid 325 (E325K) in the second calcium-binding EGF domain.
T16 1356-1368 Sentence denotes CONCLUSIONS:
T17 1369-1468 Sentence denotes Two novel CRELD1 mutations were identified in the calcium-binding EGF domain in patients with AVSD.
T18 1469-1638 Sentence denotes CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation.