Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen
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Osteogenesis imperfecta: translation of mutation to phenotypeRecent developments in osteogenesis imperfectaTransgenic mouse model of the mild dominant form of osteogenesis imperfectaType I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal developmentSegregation analysis of dominant osteogenesis imperfecta in ItalyCollagen 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 IPrenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.Frameshift 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.Diminished 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.Skin collagen defects in a patient with juvenile hyaline fibromatosisOsteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.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.Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfectaReduced diaphyseal strength associated with high intracortical vascular porosity within long bones of children with 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 phenotypePremature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsOsteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenNuclease 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.Rescue of type I collagen-deficient phenotype by retroviral-vector-mediated transfer of human pro alpha 1(I) collagen gene into Mov-13 cellsGenetics of ischaemic stroke; single gene disorders.Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.Child abuse and osteogenesis imperfecta.Genetic disorders of collagenCollagen genes and inherited connective tissue diseaseEnhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta.Serum concentrations of procollagen I C-terminal propeptide, osteocalcin and insulin-like growth factor-I in patients with non-lethal osteogenesis imperfecta.Osteogenesis imperfecta: an x ray fibre diffraction study.Single base pair alterations as the predominant category of mutation in type I osteogenesis imperfectaMolecular abnormalities of collagen in human disease.The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.Collagen defects in lethal perinatal osteogenesis imperfecta.Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.
P2860
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P2860
Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen
description
1982 nî lūn-bûn
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1982年の論文
@ja
1982年学术文章
@wuu
1982年学术文章
@zh-cn
1982年学术文章
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1982年学术文章
@zh-my
1982年学术文章
@zh-sg
1982年學術文章
@yue
1982年學術文章
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1982年學術文章
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name
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@ast
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@en
type
label
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@ast
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@en
prefLabel
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@ast
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@en
P2093
P2860
P356
P1476
Type I osteogenesis imperfecta ...... ) chains of type I procollagen
@en
P2093
P2860
P304
P356
10.1073/PNAS.79.12.3838
P407
P577
1982-06-01T00:00:00Z