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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
14
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pubmed:dateCreated |
2006-4-6
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1533-4406
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pubmed:author |
pubmed-author:BousserMarie GermaineMG,
pubmed-author:GouldDouglas BDB,
pubmed-author:HeutinkPeterP,
pubmed-author:JohnSimon W MSW,
pubmed-author:MassinPascaleP,
pubmed-author:MinerJeffrey HJH,
pubmed-author:PhalanF CampbellFC,
pubmed-author:SundbergJohn PJP,
pubmed-author:Tournier-LasserveElisabethE,
pubmed-author:VahediKatayounK,
pubmed-author:van MilSaskia ESE
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pubmed:copyrightInfo |
Copyright 2006 Massachusetts Medical Society.
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pubmed:issnType |
Electronic
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pubmed:day |
6
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pubmed:volume |
354
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1489-96
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16598045-Animals,
pubmed-meshheading:16598045-Brain,
pubmed-meshheading:16598045-Cerebral Hemorrhage,
pubmed-meshheading:16598045-Collagen Type IV,
pubmed-meshheading:16598045-Female,
pubmed-meshheading:16598045-Genetic Predisposition to Disease,
pubmed-meshheading:16598045-Glomerular Basement Membrane,
pubmed-meshheading:16598045-Humans,
pubmed-meshheading:16598045-Male,
pubmed-meshheading:16598045-Mice,
pubmed-meshheading:16598045-Mice, Inbred C57BL,
pubmed-meshheading:16598045-Mice, Mutant Strains,
pubmed-meshheading:16598045-Microcirculation,
pubmed-meshheading:16598045-Mutation,
pubmed-meshheading:16598045-Pedigree,
pubmed-meshheading:16598045-Renal Artery,
pubmed-meshheading:16598045-Retinal Artery,
pubmed-meshheading:16598045-Risk Factors,
pubmed-meshheading:16598045-Stress, Physiological,
pubmed-meshheading:16598045-Stroke
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pubmed:year |
2006
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pubmed:articleTitle |
Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
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pubmed:affiliation |
Howard Hughes Medical Institute, Bar Harbor, Me, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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