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

@article{Gould2006RoleOC,
  title={Role of COL4A1 in small-vessel disease and hemorrhagic stroke.},
  author={Douglas B. Gould and F Campbell Phalan and Saskia E. van Mil and John P. Sundberg and Katayoun Vahedi and Pascale Massin and Marie Germaine Bousser and Peter Heutink and Jeffrey H. Miner and Elisabeth Tournier-Lasserve and Simon W. M. John},
  journal={The New England journal of medicine},
  year={2006},
  volume={354 14},
  pages={
          1489-96
        }
}
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… 
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Diseases of the cerebral vasculature contribute to diverse forms of brain dysfunction, injury, and cell death. Small vessel disease (SVD) of the brain accounts for ≈25% to 30% of strokes and is a…
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Update on the genetics of stroke and cerebrovascular disease 2006.
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Biallelic COLGALT1 variants are associated with cerebral small vessel disease
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This study aimed to identify novel genes that cause COL4A1/COL4A2‐related disorders, and identified mutations that impair the secretion of collagen to the extracellular matrix, thereby resulting in vessel fragility.
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