Recombinant Mouse Collagen alpha-1 (IV) chain (Col4a1), partial

1. Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome PMID:28057519
2. Embryo implantation triggers dynamic spatiotemporal expression of the basement membrane toolkit (Col4a1, GPBP, Lamc1, peroxidasin) during uterine reprogramming. PMID:27619726
3. the lens and possibly vasculature play important roles in Col4a1-related anterior segment dysgenesis. PMID:28237965
4. 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. PMID:27412481
5. 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. PMID:28056338
6. 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 PMID:26839400
7. 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. PMID:25686533
8. Col4a1 mutations cause abnormal vascular development, which triggers small-vessel disease, recurrent hemorrhagic strokes, and age-related macroangiopathy. PMID:25753534
9. Down-regulation let-7 by transforming growth factor-beta1-induced Lin28 upregulates collagen expression in glomerular mesangial cells from diabetic mice. PMID:25354942
10. 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. PMID:24203695
11. WT1 maintains testicular cord integrity by additively regulating the expression of basal lamina components Col4a1 and Col4a2 with SOX9. PMID:23325811
12. show that heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of Muscle-eye-brain disease/Walker-Warburg syndrome PMID:21625620
13. 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. PMID:20522651
14. Collectively, our results suggest that vascular basement membrane components substantially impact gene expression in astrocytes during brain tissue repair. PMID:20091789
15. Mutations in COL4A1 result in a complex vascular phenotype encompassing defects in maintenance of vascular tone, endothelial cell function and blood pressure regulation. PMID:20056676
16. Collagen type IV and Perlecan exhibit dynamic localization in the Allantoic Core Domain. PMID:19924818
17. In murine embryos, collagen IV subunits alpha1(IV), alpha2(IV), alpha5(IV) and alpha6(IV) were detected in the basement membrane surrounding the lens vesicle, and they persisted in the capsule until adulthood. PMID:12225806
18. findings show that mutations in Col4a1 can lead to perinatal cerebral hemorrhage and can predispose to porencephaly; propose that Col4a1 mutations conspire with environmental trauma in causing the disease PMID:15905400
19. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. PMID:16159887
20. In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha1, predisposes both newborn and adult mice to intracerebral hemorrhage. PMID:16598045
21. The genetic, molecular, and phenotypic characterization of nine Col4a1 and three Col4a2 missense mutations recovered in random mutagenesis experiments in the mouse, are presented. PMID:17179069
22. Results show that a mutation in Col4a1 gene can cause both ocular anterior segment dysgenesis and optic nerve hypoplasia. PMID:17317786
23. Foxc2 plays an important role in the development of the mesenchyme through the regulation of MyoD gene expression but does not regulate Collagen type IV alpha 1 (Col4a1) or Col4a2 PMID:17506979

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UNIGENE: Mm.738

KEGG: mmu:12826

STRING: 10090.ENSMUSP00000033898