about
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complexGene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exonHuman alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2Partial characterization of a low molecular weight human collagen that undergoes alternative splicingCandidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebratesPITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndromeGlycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroidAssignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1Cloning and chromosomal localization of human genes encoding the three chains of type VI collagenA type X collagen mutation causes Schmid metaphyseal chondrodysplasiaHaploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndromeG protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and laminationType III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular developmentStructure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.Collagen 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 VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.Generation of collagenase-resistant collagen by site-directed mutagenesis of murine pro alpha 1(I) collagen gene.Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.DNA analysis in human diseaseHydrolyzed eggshell membrane immobilized on phosphorylcholine polymer supplies extracellular matrix environment for human dermal fibroblasts.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 imperfectaOsteoporosis: cause and management.Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in jointsGPR56 and the developing cerebral cortex: cells, matrix, and neuronal migrationCartilage matrix protein forms a type II collagen-independent filamentous network: analysis in primary cell cultures with a retrovirus expression systemMutations in collagen genes. Consequences for rare and common diseasesOsteogenesis 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 unstabIntroduction of the human pro alpha 1(I) collagen gene into pro alpha 1(I)-deficient Mov-13 mouse cells leads to formation of functional mouse-human hybrid type I collagenTissue-specific expression of the human type II collagen gene in mice.Decrease in outpatient department visits and operative interventions due to bisphosphonates in children with osteogenesis imperfecta.Psychosocial aspects of osteogenesis imperfecta.Skin collagen defects in a patient with juvenile hyaline fibromatosisA second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
P2860
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P2860
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
1984年论文
@zh
1984年论文
@zh-cn
name
Heritable diseases of collagen.
@en
type
label
Heritable diseases of collagen.
@en
prefLabel
Heritable diseases of collagen.
@en
P1476
Heritable diseases of collagen.
@en
P2093
Kivirikko KI
Prockop DJ
P304
P356
10.1056/NEJM198408093110606
P407
P577
1984-08-01T00:00:00Z