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Article

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

Journal of medical genetics - 1 Sept 1995

Willing M C, Slayton R L, Pitts S H, Deschenes S P

Abstract excerpt

Osteogenesis imperfecta type I results from decreased production of structurally normal type I collagen as a result of a COL1A1 "null" allele. Steady state amounts of COL1A1 mRNA are reduced in both the nucleus and cytoplasm of dermal fibroblasts from most affected subjects. Mutations involving key regulatory sequences in the COL1A1 promoter, such as the TATAAA and CCAAAT boxes, could alter steady state levels of...

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Identifiers

PMID: 8544188
DOI: 10.1136/jmg.32.9.697
PMCID: PMC1051669

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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.

Related research

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Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.PMID 8544188Read ↗

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

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

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

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.Semantic proximity Read ↗

Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta.Semantic proximity Read ↗

A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I.Semantic proximity Read ↗

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.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 ↗

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.Semantic proximity Read ↗

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