COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
about
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyCerebrovascular disease related to COL4A1 mutations in HANAC syndromeMicrovascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brainChildhood presentation of COL4A1 mutationsCOL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansDevelopmental distribution of collagen IV isoforms and relevance to ocular diseasesCerebral microhemorrhages: mechanisms, consequences, and prevention.The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Unravelling the genetics of ischaemic stroke.Autophagy, Endoplasmic Reticulum Stress and the Unfolded Protein Response in Intracerebral Hemorrhage.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaThe Drosophila surface glia transcriptome: evolutionary conserved blood-brain barrier processesCOL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke PreventionCOL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.COL4A2 mutation associated with familial porencephaly and small-vessel disease.Intraocular hemorrhage causes retinal vascular dysfunction via plasma kallikrein.Stroke-related translational research.Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.Cell-matrix interactions in muscle disease.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Migraine genetics: Part II.Smooth muscle cell phenotypic switching in stroke.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Recognizable phenotypes associated with intracranial calcification.FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis.Intracerebral hemorrhage in a young manHereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyβ1-integrin/matrix interactions support blood-brain barrier integrity.Distribution of α(IV) collagen chains in the ocular anterior segments of adult mice.Brain vascular heterogeneity: implications for disease pathogenesis and design of in vitro blood-brain barrier models.COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy
P2860
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P2860
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@en
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@nl
type
label
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@en
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@nl
prefLabel
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@en
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@nl
P2093
P50
P1433
P1476
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
@en
P2093
Katayoun Vahedi
Minh Arnoult
Monique Boukobza
Pascale Massin
P304
P356
10.1161/STROKEAHA.106.475194
P407
P577
2007-03-22T00:00:00Z