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
- van der Knaap M, Smit L, Barkhof F, Pijnenburg Y, Zweegman S, Niessen H, et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol. 2006;59:504-11 pubmed..Mutations in collagen IV A1, a major component of the vascular basement membrane, appear to be another risk factor. ..
- Wang X, Shi K, Li J, Chen T, Guo Y, Liu Y, et al. Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension. Genet Mol Res. 2015;14:1707-17 pubmed publisher..Real-time fluorescent quantitative PCR was used to detect MMP2, MMP9, TIMP1, COL1A1, and COL4A1 mRNA expression. Picro-sirius red staining was performed to detect collagen protein expression...
- Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont M, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007;357:2687-95 pubmed..Linkage studies involving microsatellite markers flanking the COL4A1-COL4A2 locus were performed, followed by sequence analysis of COL4A1 complementary DNA extracted from skin-..
- Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, et al. Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. Am J Med Genet A. 2010;152A:2550-5 pubmed publisherThe COL4A1 gene encodes the ?1-chain of type IV collagen, which is ubiquitously expressed in basement membranes...
- Shindo T, Manabe I, Fukushima Y, Tobe K, Aizawa K, Miyamoto S, et al. Krüppel-like zinc-finger transcription factor KLF5/BTEB2 is a target for angiotensin II signaling and an essential regulator of cardiovascular remodeling. Nat Med. 2002;8:856-63 pubmed..KLF5 thus seems to be a key element linking external stress and cardiovascular remodeling. ..
- Davenport E, Nettesheim P. Type I collagen gel modulates extracellular matrix synthesis and deposition by tracheal epithelial cells. Exp Cell Res. 1996;223:155-62 pubmed..These date demonstrate that ECM RNA and protein expression by RTE cells in ALI cultures are down-regulated by type I collagen gel whereas differentiation and ECM deposition are accelerated and enhanced on type I collagen gel. ..
- Breedveld G, de Coo I, Lequin M, Arts W, Heutink P, Gould D, et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006;43:490-5 pubmed..b>COL4A1 is an essential component in basal membrane stability...
- Nagai N, Nakano K, Sado Y, Naito I, Gunduz M, Tsujigiwa H, et al. Localization of type IV collagen a 1 to a 6 chains in basement membrane during mouse molar germ development. Int J Dev Biol. 2001;45:827-31 pubmed..These findings suggest that stage- and position-specific distribution of type IV collagen alpha subunits occur during molar germ development and that these changes are essential for molar morphogenesis and cytodifferentiation. ..
- Gould D, Phalan F, van Mil S, Sundberg J, Vahedi K, Massin P, et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006;354:1489-96 pubmed..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...
- 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) ..