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Article

Dissecting the phenotypic variability of osteogenesis imperfecta.

Disease models & mechanisms - 1 May 2022

Garibaldi Nadia, Besio Roberta, Dalgleish Raymond, Villani Simona, Barnes Aileen M, Marini Joan C, Forlino Antonella

Abstract excerpt

Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the α1(I) and α2(I) collagen chains. Mutant collagen is partially retained intracellularly, impairing cell homeostasis. Upon...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Collagen Type I, alpha 1 Chain

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Source

Open in PubMed Open full text

Identifiers

PMID: 35575034
DOI: 10.1242/dmm.049398
PMCID: PMC9150118

Genes

COL1A2
COL1A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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