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Article

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

Human molecular genetics - 15 Aug 2012

Thiele Frank, Cohrs Christian M, Flor Armando, Lisse Thomas S, Przemeck Gerhard K H, Horsch Marion, Schrewe Anja, Gailus-Durner Valerie, Ivandic Boris, Katus Hugo A, Wurst Wolfgang, Reisenberg Catherine, Chaney Hollis, Fuchs Helmut, Hans Wolfgang, Beckers Johannes, Marini Joan C, Hrabé de Angelis Martin

Abstract excerpt

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with skeletal dysplasia of varying severity, predominantly caused by mutations in the collagen I genes (COL1A1/COL1A2). Extraskeletal findings such as cardiac and pulmonary complications are generally considered to be signifi...

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Identifiers

PMID: 22589248
DOI: 10.1093/hmg/dds183
PMCID: PMC3406754

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22589248-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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