COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
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 mutationsRole of the podocyte (and glomerular endothelium) in building the GBMGenome-wide association studies of late-onset cardiovascular diseaseCol4a1 mutations cause progressive retinal neovascular defects and retinopathyTranscriptional and functional profiling of human embryonic stem cell-derived cardiomyocytesNovel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infectionPhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyDelineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsCOL4A1 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.Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic strokeCerebral 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.A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagenThe 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.COL4A1 is associated with arterial stiffness by genome-wide association scan.COL4A1 mutation in preterm intraventricular hemorrhage.Alternative splicing of endothelial fibronectin is induced by disturbed hemodynamics and protects against hemorrhage of the vessel wallThe genetic basis of aortic aneurysmA homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaAortic abnormalities in males with Alport syndrome.The genetics of monarch butterfly migration and warning colouration.Nonsense-mediated decay in genetic disease: friend or foe?Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusMultiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment.COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.Expression of Fraser syndrome genes in normal and polycystic murine kidneys.Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.COL4A2 mutation associated with familial porencephaly and small-vessel disease.Collagen Type IV and Laminin Expressions during Cartilage Repair and in Late Clinically Failed Repair Tissues from Human Subjects.Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.
P2860
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P2860
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@ast
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en-gb
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@nl
type
label
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@ast
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en-gb
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@nl
prefLabel
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@ast
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en-gb
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@nl
P2093
P50
P3181
P356
P1476
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
@en
P2093
Béatrice Marro
Béatrice Mougenot
Catherine Prost
Emmanuelle Plaisier
Etienne Roullet
Marie Christine Verpont
Michel Dracon
Michel Fardeau
Pierre Ronco
Salomon Yves Cohen
P304
P3181
P356
10.1056/NEJMOA071906
P407
P577
2007-12-27T00:00:00Z