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Article

Studies of type I collagen in osteogenesis imperfecta.

The Journal of pediatrics - 1 Jul 1990

Edwards M J, Graham J M

Abstract excerpt

We used the results of skin fibroblast type I collagen analysis to improve the accuracy of diagnosis and genetic counseling for six patients with osteogenesis imperfecta. The fibroblasts of two patients with osteogenesis imperfecta type I synthesized a reduced quantity of qualitatively normal type I procollagen. Another patient with osteogenesis imperfecta type I had two populations of type I collagen molecules,...

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Source

Identifiers

PMID: 2370612
DOI: 10.1016/s0022-3476(05)82445-x

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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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Studies of type I collagen in osteogenesis imperfecta.PMID 2370612Read ↗

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.Semantic proximity Read ↗

Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta.Semantic proximity Read ↗

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.Semantic proximity Read ↗

Molecular heterogeneity in osteogenesis imperfecta type I.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 ↗

Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.Semantic proximity Read ↗

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.Semantic proximity Read ↗

Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.Semantic proximity Read ↗

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

Phenotype variability in a daughter and father with mild osteogenesis imperfecta correlated with collagen and prolidase levels in cultured skin fibroblasts.Semantic proximity Read ↗

Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III.Semantic proximity Read ↗

Severe osteogenesis imperfecta: type 1 collagen abnormalities in 17 skin fibroblast cell lines.Semantic proximity Read ↗

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