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Article

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

American journal of human genetics - 1 Sept 1992

Willing M C, Pruchno C J, Atkinson M, Byers P H

Abstract excerpt

Dermal fibroblasts from most individuals with osteogenesis imperfecta (OI) type I produce about half the normal amount of type I procollagen, as a result of decreased synthesis of one of its constituent chains, pro alpha 1 (I). To test the hypothesis that decreased synthesis of pro alpha (I) chains results from mutations in the COL1A1 gene, we used primer extension with nucleotide-specific chain termination to...

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Identifiers

PMID: 1353940
PMCID: PMC1682712

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.PMID 1353940Read ↗

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

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

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

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.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 ↗

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 ↗

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 ↗

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.Semantic proximity Read ↗

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.Semantic proximity Read ↗

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.Semantic proximity Read ↗

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.Semantic proximity Read ↗

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