Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
about
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectac-Krox binds to several sites in the promoter of both mouse type I collagen genes. Structure/function study and developmental expression analysisOsteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsibleCollagen genes and proteins in osteogenesis imperfecta.Osteogenesis imperfecta type IIA: evidence for dominant inheritanceThe swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutationsReducing the effects of intracellular accumulation of thermolabile collagen II mutants by increasing their thermostability in cell culture conditions.A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.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.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 unstabPulse-chase analysis of procollagen biosynthesis by azidohomoalanine labeling.Skin collagen defects in a patient with juvenile hyaline fibromatosisUnilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome.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 imperfectaAn unusual pattern of peptide-bound lysine metabolism in collagen from an infant with lethal perinatal osteogenesis imperfecta.Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagenAmniotic bands in connective tissue disorders.Gene therapy approaches for osteogenesis imperfecta.Newer imaging modalities in the prenatal diagnosis of skeletal dysplasias.Osteonectin, 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.Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagenMarfan syndrome: abnormal alpha 2 chain in type I collagen.The Gordon Wilson lecture. Mutations in type I procollagen genes. An explanation for brittle bones and a paradigm for other diseases of connective tissue.Expression of type I and III collagen genes during differentiation of embryonic chicken myoblasts in culture.Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature.Osteogenesis imperfecta: the molecular basis of clinical heterogeneity.Genetic disorders of collagenCollagen genes and inherited connective tissue diseaseOsteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.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.Biosynthesis of a disulphide-bonded short-chain collagen by calf growth-plate cartilage.Analysis of cyanogen bromide peptides of type I collagen from a patient with lethal osteogenesis imperfecta.Molecular abnormalities of collagen in human disease.
P2860
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P2860
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
description
1981 nî lūn-bûn
@nan
1981 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@ast
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@en
type
label
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@ast
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@en
prefLabel
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@ast
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@en
P2860
P356
P1476
Reduced secretion of structura ...... rm of osteogenesis imperfecta.
@en
P2093
P2860
P304
P356
10.1073/PNAS.78.8.5142
P407
P577
1981-08-01T00:00:00Z