Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta
about
Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.Polymorphism of DNA sequence in the human pro alpha 2(I) collagen geneCollagen genes and proteins in osteogenesis imperfecta.Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type IThe clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfectaFrameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.Mutations in collagen genes. Consequences for rare and common diseasesDiminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstabSkin collagen defects in a patient with juvenile hyaline fibromatosisOsteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotypeOsteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta.Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.Connective tissue diseases in the skin--from molecules to symptoms.microRNA Regulation of Skeletal Development.Molecular and clinical aspects of connective tissue.Collagen genes and inherited connective tissue diseaseOsteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.Molecular abnormalities of collagen in human disease.Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfecta.Osteoporosis and familial idiopathic scoliosis: association with an abnormal alpha 2(I) collagen.Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.
P2860
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P2860
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta
description
1983 nî lūn-bûn
@nan
1983 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի մարտին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@ast
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@en
type
label
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@ast
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@en
prefLabel
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@ast
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@en
P2093
P2860
P356
P1476
Abnormal alpha 2-chain in type ...... orm of osteogenesis imperfecta
@en
P2093
J R Shapiro
K A Holbrook
P2860
P304
P356
10.1172/JCI110815
P407
P577
1983-03-01T00:00:00Z