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Smooth muscle cell degeneration is a critical factor underlying the partial penetrance of COL4A1-stroke related macrohaemorrhages.
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This work presents binding data consistent with a major role of 3-hydroxyproline in interactions of collagen IV with glycoprotein VI and nidogens 1 and 2.
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Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome
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Embryo implantation triggers dynamic spatiotemporal expression of the basement membrane toolkit (Col4a1, GPBP, Lamc1, peroxidasin) during uterine reprogramming.
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DDR1 kinase activity is required for regulating collagen IV synthesis.
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the lens and possibly vasculature play important roles in Col4a1-related anterior segment dysgenesis.
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Mutations in murine Col4a1 and Col4a2 genes affected the balance between lung epithelial progenitors and differentiated cells. Mutations in Col4a1 derived from the vascular component were sufficient to cause defects in vascular development and the blood-gas barrier. Col4a1 and Col4a2 mutants displayed disrupted myofibroblast proliferation, differentiation and migration.
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This extensive description of the muscular phenotype of the Col4a1 HANAC murine model suggests a potential contribution of primary endothelial cell defects, together with muscle BM alterations, to the development of COL4A1-related myopathy.
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The findings indicate the critical role of CatB in regulating the expression of collagens III and IV by fibroblasts via prolonging TLR2/NF-kappaB activation and oxidative stress.
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data show that both basement membrane defects and ER stress contribute to Col4a1 renal disease, which has important implications for the development of treatment strategies for collagenopathies
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Silencing the Col4-alpha1 gene or disrupting integrin engagement by blocking the antibody reduced the expression of platelet-derived growth factor A (PDGF-A), a potent chemotactic factor for fibroblasts.
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Col4a1 mutations cause abnormal vascular development, which triggers small-vessel disease, recurrent hemorrhagic strokes, and age-related macroangiopathy.
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Down-regulation let-7 by transforming growth factor-beta1-induced Lin28 upregulates collagen expression in glomerular mesangial cells from diabetic mice.
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COL4A1 and COL4A2 mutations are pleiotropic and cause a wide spectrum of disorders, including ocular dysgenesis, brain malformations and myopathy, of variable severity in both mice and humans.
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WT1 maintains testicular cord integrity by additively regulating the expression of basal lamina components Col4a1 and Col4a2 with SOX9.
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show that heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of Muscle-eye-brain disease/Walker-Warburg syndrome
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Data suggest that podocyte von Hippel-Lindau protein is required for normal maintenance of podocytes, basment membrane collagen {alpha}1{alpha}2{alpha}1(IV) deposition and ultrastructure, neuroglobin experssion and glomerular barrier properties.
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Collectively, our results suggest that vascular basement membrane components substantially impact gene expression in astrocytes during brain tissue repair.
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Mutations in COL4A1 result in a complex vascular phenotype encompassing defects in maintenance of vascular tone, endothelial cell function and blood pressure regulation.
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Collagen type IV and Perlecan exhibit dynamic localization in the Allantoic Core Domain.