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Article

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

American journal of human genetics - 13 Jan 2012

Jeanne Marion, Labelle-Dumais Cassandre, Jorgensen Jeff, Kauffman W Berkeley, Mancini Grazia M, Favor Jack, Valant Valerie, Greenberg Steven M, Rosand Jonathan, Gould Douglas B

Abstract excerpt

Collagen, type IV, alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature. COL4A1 mutations are an increasingly recognized cause of multisystem disorders, including highly penetrant cerebrovascular disease and intracerebral hemorrhage (ICH). Because COL4A1 and COL4A2 are structurally and functionally associated, we...

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Identifiers

PMID: 22209247
DOI: 10.1016/j.ajhg.2011.11.022
PMCID: PMC3257894

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.PMID 22209247Read ↗

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Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.Semantic proximity Read ↗

Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral HemorrhageSemantic proximity Read ↗

Investigating the mechanisms and modifiers of disease resulting from mutations in COL4A1 and COL4A2Semantic proximity Read ↗

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Semantic proximity Read ↗

Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.Semantic proximity Read ↗

Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysmsSemantic proximity Read ↗

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.Semantic proximity Read ↗

Role of COL4A1 in Basement-Membrane Integrity and Cerebral Small-Vessel Disease. The COL4A1 Stroke SyndromeSemantic proximity Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

Late-onset intracerebral hemorrhage associated with COL4A1 variants: clinical and genetic perspectives.Semantic proximity Read ↗

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