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the shiomaneki (sio) gene locus encodes Col4a6 (show COL4a6 Proteins), a subunit of type IV collagen (show COL4 Proteins), which, in a complex with Col4a5, is a basement membrane (BM) component. Both col4a5 and col4a6 (show COL4a6 Proteins) mutants displayed similar abnormalities in the axogenesis
During motor axon regeneration, col4a5 destabilizes axons probing inappropriate trajectories to ensure target-selective regeneration, possible through slit1a.
Genetic and biochemical studies indicate that Slit binds to Dragnet (Col4a5) which forms the basement membrane on the surface of the tectum.
Our findings extend the spectrum of COL4A1 mutations linked with renal disease and demonstrate that the highly conserved C-terminal part of the NC1 domain of the alpha1 chain of type IV collagen (show COL4 Proteins) is important in the integrity of glomerular basement membrane in humans.
Twist1 (show TWIST1 Proteins) appears to require both palladin (show PALLD Proteins) and collagen alpha1(VI) as downstream effectors for its prometastatic effects, which could be future therapeutic targets in cancer metastasis.
only collagen-IV (show COL4 Proteins) elicits the formation of proteolytically active podosomes through a mechanism involving increased Src (show SRC Proteins) phosphorylation, p190RhoGAP (show GRLF1 Proteins)-B (also known as ARHGAP5) relocalisation and MT1-MMP (show MMP14 Proteins) (also known as MMP14 (show MMP14 Proteins)) cell surface exposure at podosome sites.
Mutations upregulating COL4A1 expression lead topontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL).
The study shows an association of the COL4A1 gene with cerebral palsy and suggests a potential role of COL4A1 in the pathogenesis of this disease.
Differential protein expression of collagen IV (show COL4 Proteins), laminin alpha2, and nidogen-1 (show NID1 Proteins) indicated basal lamina remodeling develops in ischemic failing versus nonfailing human hearts.
COL4A1 expression is significantly upregulated in human masticatory mucosa during wound healing.
The findings indicate the critical role of CatB in regulating the expression of collagens III and IV by fibroblasts via prolonging TLR2/NF-kappaB (show NFKB1 Proteins) activation and oxidative stress.
pulmonary complications should be considered in patients with COL4A1 mutation-related disorders.
Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 (show COL4a2 Proteins) revealed a de novo COL4A1 mutation (c.2123G>T [p.Gly708Val]).
Mutations in murine Col4a1 and Col4a2 (show COL4a2 Proteins) 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 (show COL4a2 Proteins) mutants displayed disrupted myofibroblast proliferation, differentiation and migration.
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.
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
Silencing the Col4-alpha1 gene or disrupting integrin engagement by blocking the antibody reduced the expression of platelet-derived growth factor A (PDGF-A (show PDGFA Proteins)), a potent chemotactic factor for fibroblasts.
Col4a1 mutations cause abnormal vascular development, which triggers small-vessel disease, recurrent hemorrhagic strokes, and age-related macroangiopathy.
Down-regulation let-7 by transforming growth factor-beta1-induced Lin28 (show LIN28A Proteins) upregulates collagen expression in glomerular mesangial cells from diabetic mice.
COL4A1 and COL4A2 (show COL4a2 Proteins) 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.
WT1 (show WT1 Proteins) maintains testicular cord integrity by additively regulating the expression of basal lamina components Col4a1 and Col4a2 (show COL4a2 Proteins) with SOX9 (show SOX9 Proteins).
show that heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of Muscle-eye-brain disease/Walker-Warburg syndrome
High shear stress up-regulates type IV collagen (show COL4 Proteins) synthesis and down-regulates MMP-2 (show MMP2 Proteins) secretion in endothelial cells.
alpha1.alpha2 stabilize the noncollagenous domain-1 by noncovalent forces and the absence of Met-Lys (show LYZ Proteins) cross-links
This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.
collagen alpha-5(IV) chain
, type IV collagen alpha 1
, collagen, type IV, alpha 1
, collagen type IV alpha 1 chain
, collagen alpha-1(IV) chain-like
, COL4A1 NC1 domain
, collagen IV, alpha-1 polypeptide
, collagen alpha-1(IV) chain
, collagen of basement membrane, alpha-1 chain
, alpha1(IV) collagen
, procollagen, type IV, alpha 1
, retinal anterior wiring
, alpha 1 type IV collagen
, collagen IV a1 chain