Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
about
P1343
Osteogenesis imperfecta: translation of mutation to phenotypeCloning and chromosomal location of human alpha 1(XVI) collagenThe pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagensA base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VIITandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV 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.Perinatal lethal 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 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 collagenParental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.Analysis of cDNA and genomic clones coding for the pro alpha 1 chain of calf type II collagenOsteogenesis 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 phenotypeCompilation of DNA strand exchange sites for non-homologous recombination in somatic cells.High-frequency illegitimate integration of transfected DNA at preintegrated target sites in a mammalian genomeRescue of type I collagen-deficient phenotype by retroviral-vector-mediated transfer of human pro alpha 1(I) collagen gene into Mov-13 cellsLethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.Altered steady-state ratio of type I/III procollagen mRNAs correlates with selectively increased type I procollagen biosynthesis in cultured keloid fibroblasts.Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.The human type I collagen mutation database.Genetic disorders of collagenCollagen genes and inherited connective tissue diseaseInduction, by thymidylate stress, of genetic recombination as evidenced by deletion of a transferred genetic marker in mouse FM3A cells.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.Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions.Osteogenesis imperfecta and therapeutics.
P2860
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P2860
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
description
1985 nî lūn-bûn
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1985年の論文
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1985年学术文章
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1985年学术文章
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name
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@en
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@nl
type
label
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@en
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@nl
prefLabel
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@en
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@nl
P2093
P1476
Multiexon deletion in an osteo ...... reased type III collagen mRNA.
@en
P2093
P304
P407
P4510
P577
1985-01-01T00:00:00Z