COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. - Wikidata - awgldk - TriplyDB

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

http://www.wikidata.org/entity/Q35671528

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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency Intracerebral Hemorrhage, Oxidative Stress, and Antioxidant Therapy Copy number variations and stroke Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X Rare Coding Variation and Risk of Intracerebral Hemorrhage.Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Distinct functions of the laminin β LN domain and collagen IV during cardiac extracellular matrix formation and stabilization of alary muscle attachments revealed by EMS mutagenesis in Drosophila.The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management.Autophagy, Endoplasmic Reticulum Stress and the Unfolded Protein Response in Intracerebral Hemorrhage.Vascular disruption and blood-brain barrier dysfunction in intracerebral hemorrhage.Peroxidasin is essential for eye development in the mouse Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.Crucial role for the VWF A1 domain in binding to type IV collagen.Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction.Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.Transcriptomics of post-stroke angiogenesis in the aged brain.siRNA-mediated suppression of collagen type iv alpha 2 (COL4A2) mRNA inhibits triple-negative breast cancer cell proliferation and migration.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).Evidence for activation of the unfolded protein response in collagen IV nephropathies Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.Genetic risk factors for spontaneous intracerebral haemorrhage.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Bidirectional encroachment of collagen into the tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls.'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?Cilostazol ameliorates collagenase-induced cerebral hemorrhage by protecting the blood-brain barrier.Genetics of Spontaneous Intracerebral Hemorrhage.Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

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P2860

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

http://www.wikidata.org/entity/Q35671528

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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2011年论文

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name

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@ast

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@en

type

label

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@ast

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@en

prefLabel

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@ast

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@en

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J.AJHG.2011.11.022

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American Journal of Human Genetics

P1476

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

@en

P2093

Cassandre Labelle-Dumais

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Douglas B Gould

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Grazia M Mancini

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Jack Favor

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Jeff Jorgensen

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Marion Jeanne

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Steven M Greenberg

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Valerie Valant

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W Berkeley Kauffman

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P2860

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

Prolyl 4-hydroxylase

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans

COL4A1 mutation in preterm intraventricular hemorrhage.

Aspirin and recurrent intracerebral hemorrhage in cerebral amyloid angiopathy.

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91-101

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10.1016/J.AJHG.2011.11.022

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1

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Jonathan Rosand

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2011-12-29T00:00:00Z

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51972584

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22209247

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3257894

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