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Article

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

The Annals of otology, rhinology, and laryngology - 1 Feb 2002

McKenna Michael J, Kristiansen Arthur G, Tropitzsch Anke S

Abstract excerpt

Because of the clinical and histopathologic similarities between otosclerosis and type I osteogenesis imperfecta, we examined COL1A1 messenger RNA (mRNA) expression in cultured fibroblasts from patients with clinical otosclerosis to determine whether abnormalities of expression of COL1A1 were present, as has been reported in type I osteogenesis imperfecta. Type I osteogenesis imperfecta has been found to result...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11860074
DOI: 10.1177/000348940211100214

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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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Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta.PMID 11860074Read ↗

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Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.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 ↗

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 ↗

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