RGD Reference Report - Role of COL4A1 in small-vessel disease and hemorrhagic stroke. - Rat Genome Database

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Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

Authors: Gould, DB  Phalan, FC  Van Mil, SE  Sundberg, JP  Vahedi, K  Massin, P  Bousser, MG  Heutink, P  Miner, JH  Tournier-Lasserve, E  John, SW 
Citation: Gould DB, etal., N Engl J Med. 2006 Apr 6;354(14):1489-96.
RGD ID: 1581204
Pubmed: (View Article at PubMed) PMID:16598045
DOI: Full-text: DOI:10.1056/NEJMoa053727

Small-vessel diseases of the brain underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha1, predisposes both newborn and adult mice to intracerebral hemorrhage. Surgical delivery of mutant mice alleviated birth-associated trauma and hemorrhage. We identified a COL4A1 mutation in a human family with small-vessel disease. We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress.


Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Col4a1  (collagen type IV alpha 1 chain)

Genes (Mus musculus)
Col4a1  (collagen, type IV, alpha 1)

Genes (Homo sapiens)
COL4A1  (collagen type IV alpha 1 chain)

Additional Information