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Article

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

American journal of human genetics - 1 Oct 1994

Willing M C, Deschenes S P, Scott D A, Byers P H, Slayton R L, Pitts S H, Arikat H, Roberts E J

Abstract excerpt

Osteogenesis imperfecta (OI) type I is the mildest form of inherited brittle-bone disease. Dermal fibroblasts from most affected individuals produce about half the usual amount of type I procollagen, as a result of a COL1A1 "null" allele. Using PCR amplification of genomic DNA from affected individuals, followed by denaturing gradient gel electrophoresis (DGGE) and SSCP, we identified seven different COL1A1 gene...

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PMID: 7942841
PMCID: PMC1918287

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Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.PMID 7942841Read ↗

Molecular heterogeneity in osteogenesis imperfecta type I.Semantic proximity Read ↗

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Semantic proximity Read ↗

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.Semantic proximity Read ↗

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Semantic proximity Read ↗

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).Semantic proximity Read ↗

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.Semantic proximity Read ↗

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.Semantic proximity Read ↗

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.Semantic proximity Read ↗

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