Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly

Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. to investigate the molecular pathogenesis of porencephaly, we studied a mouse mutant that develops porencephaly secondary to focal disruptions of...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 2005-05, Vol.308 (5725), p.1167-1171
Hauptverfasser:	Gould, Douglas B., Phalan, F. Campbell, Breedveld, Guido J., van Mil, Saskia E., Smith, Richard S., Schimenti, John C., Aguglia, Umberto, van der Knaap, Marjo S., Heutink, Peter, Simon W. M. John
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Amino Acid Substitution Animals Animals, Newborn Basement Membrane - embryology Basement Membrane - metabolism Basement Membrane - pathology Biological and medical sciences Birth defects Brain - blood supply Brain - embryology Brain - pathology Brain Diseases - etiology Brain Diseases - genetics Brain Diseases - pathology Central nervous system diseases Cerebral hemorrhage Cerebral Hemorrhage - etiology Cerebral Hemorrhage - genetics Cerebral Hemorrhage - pathology Chromosome Mapping Chromosomes Collagen Type IV - chemistry Collagen Type IV - genetics Collagen Type IV - metabolism Collagens Embryos Endoderm - metabolism Exons Genetic aspects Genetic mutation Heterozygote Human genetics Humans Malformations of the nervous system Medical genetics Medical sciences Mice Mutation Neurological disorders Neurology Protein Structure, Tertiary Secretion Stem cells Vascular diseases and vascular malformations of the nervous system
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