Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificati
about
CCN2/connective tissue growth factor is essential for pericyte adhesion and endothelial basement membrane formation during angiogenesisCol4a1 mutations cause progressive retinal neovascular defects and retinopathyThe conserved ADAMTS-like protein lonely heart mediates matrix formation and cardiac tissue integrityPhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyCOL4A1 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 diseasesChemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic strokeComparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.COL4A1 mutation in preterm intraventricular hemorrhage.Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis.Peroxidasin is essential for eye development in the mouseCommon somatic alterations identified in maffucci syndrome by molecular karyotypingCOL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephalyMolecular 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.Insulin gene mutations as a cause of permanent neonatal diabetes.Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.COL4A2 mutation associated with familial porencephaly and small-vessel disease.Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculusAbnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.Extracellular matrix and heart development.Cell-matrix interactions in muscle disease.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Age-related macular degeneration and changes in the extracellular matrix.Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.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.Extracellular matrix downregulation in the Drosophila heart preserves contractile function and improves lifespan.FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.Distribution of α(IV) collagen chains in the ocular anterior segments of adult mice.Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
P2860
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P2860
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificati
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Type IV procollagen missense m ...... ic series and the identificati
@ast
Type IV procollagen missense m ...... ic series and the identificati
@en
type
label
Type IV procollagen missense m ...... ic series and the identificati
@ast
Type IV procollagen missense m ...... ic series and the identificati
@en
prefLabel
Type IV procollagen missense m ...... ic series and the identificati
@ast
Type IV procollagen missense m ...... ic series and the identificati
@en
P2093
P2860
P1433
P1476
Type IV procollagen missense m ...... ic series and the identificati
@en
P2093
Angelika Neuhäuser-Klaus
Christian Johannes Gloeckner
Dirk Janik
Jack Favor
Leticia Quintanilla-Fend
Martina Klempt
Walter Pretsch
Wolfgang Schmahl
P2860
P304
P356
10.1534/GENETICS.106.064733
P407
P577
2006-12-18T00:00:00Z