Genomes and Genes
Gene Symbol: Col4a1
Description: collagen type IV alpha 1 chain
Alias: collagen alpha-1(IV) chain, alpha 1 type IV collagen, collagen, type IV, alpha 1, procollagen, type IV, alpha 1
- Grande J, Melder D, Kluge D, Wieben E. Structure of the rat collagen IV promoter. Biochim Biophys Acta. 1996;1309:85-8 pubmed..Our results suggest that transcriptional efficiency of the bidirectional promoter is more efficient in the alpha 2 (IV) direction than in the alpha 1 (IV) direction. ..
- Bhatt R, Tomoda T, Fang Y, Hatten M. Discoidin domain receptor 1 functions in axon extension of cerebellar granule neurons. Genes Dev. 2000;14:2216-28 pubmed..Our results therefore indicate that collagen-DDR1 signaling is essential for granule neuron axon formation and further suggest a unique role of pia in cerebellar cortex histogenesis. ..
- Meyer zum Gottesberge A, Felix H. Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations. Histochem Cell Biol. 2005;124:507-16 pubmed..These studies explain the cellular responses to missing Mpv17-protein, such as accumulation of the extracellular matrix, degeneration, and apoptosis in the inner ear. ..
- Peng F, Xiao Z, Chen H, Chen Y, Zhou J, Yu H, et al. Parathyroid hormone inhibits TGF-?/Smad signaling and extracellular matrix proteins upregulation in rat mesangial cells. Biochem Biophys Res Commun. 2016;478:1093-8 pubmed publisher..Further studies are needed to know whether the endocytic receptors are to be degraded or recycled, and evaluate the role of PTH in TGF-?1 signaling more comprehensively. ..
- Yamada Y, Kato K, Oguri M, Fujimaki T, Yokoi K, Matsuo H, et al. Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. J Med Genet. 2008;45:216-21 pubmed..Although several environmental factors influence the development of myocardial infarction (MI), genetic factors have been shown to contribute to individual susceptibility to this condition...
- Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology. 2009;73:1873-82 pubmed publisherb>COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke...
- Hamada Y, Fukagawa M. A possible role of thioredoxin interacting protein in the pathogenesis of streptozotocin-induced diabetic nephropathy. Kobe J Med Sci. 2007;53:53-61 pubmed..In addition, the expression of Type IV collagen alpha1 chain (Col4A1), Transforming growth factor-beta (TGF-beta), and Txnip were evaluated by real-time polymerase chain reaction...
- Lemmens R, Maugeri A, Niessen H, Goris A, Tousseyn T, Demaerel P, et al. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. Hum Mol Genet. 2013;22:391-7 pubmed publisherMutations in COL4A1 have been identified in families with hereditary small vessel disease of the brain presumably due to a dominant-negative mechanism...
- Fox M, Sanes J, Borza D, Eswarakumar V, Fassler R, Hudson B, et al. Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell. 2007;129:179-93 pubmed..Thus, multiple target-derived signals permit discrete control of the formation, maturation, and maintenance of presynaptic specializations. ..
- Lim A, Ma F, Nikolic Paterson D, Thomas M, Hurst L, Tesch G. Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db mice. Diabetologia. 2009;52:1669-79 pubmed publisher..damage (cell proliferation and myofibroblast accrual) and renal fibrosis (Tgf-beta1 [also known as Tgfb1] and Col4a1 mRNA)...
- Lozanoff S, Johnston J, Ma W, Jourdan Le Saux C. Immunohistochemical localization of Pax2 and associated proteins in the developing kidney of mice with renal hypoplasia. J Histochem Cytochem. 2001;49:1081-97 pubmed..J Histochem Cytochem 49:1081-1097, 2001) ..