De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly
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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyPhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyThe expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Polymicrogyria: pathology, fetal origins and mechanisms.Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke PreventionER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.Genome-wide association study of shared components of reading disability and language impairment.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.siRNA-mediated suppression of collagen type iv alpha 2 (COL4A2) mRNA inhibits triple-negative breast cancer cell proliferation and migration.Unusual Presentation of Porencephalic Cyst in an Adult.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.The collagenopathies: review of clinical phenotypes and molecular correlations.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Kidney development and perspectives for organ engineering.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.'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?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.A further genetic cause of thin basement membrane nephropathy.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 leukoencephalopathyTherapeutic effects of injection combined with telmisartan in patients with diabetic nephropathy by influencing collagen IV and fibronectin: A case-control study
P2860
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P2860
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
De novo and inherited mutation ...... en α2 chain cause porencephaly
@ast
De novo and inherited mutation ...... en α2 chain cause porencephaly
@en
type
label
De novo and inherited mutation ...... en α2 chain cause porencephaly
@ast
De novo and inherited mutation ...... en α2 chain cause porencephaly
@en
prefLabel
De novo and inherited mutation ...... en α2 chain cause porencephaly
@ast
De novo and inherited mutation ...... en α2 chain cause porencephaly
@en
P2093
P2860
P50
P1476
De novo and inherited mutation ...... en α2 chain cause porencephaly
@en
P2093
Hiroshi Doi
Hitoshi Osaka
Kazuhiro Haginoya
Kenji Yokochi
Naomichi Matsumoto
Noriko Miyake
Shigeo Yamaoka
Yuriko Yoneda
P2860
P356
10.1016/J.AJHG.2011.11.016
P407
P577
2011-12-29T00:00:00Z