- COL8A1
Collagen, type VIII, alpha 1, also known as COL8A1, is a human
gene .cite web | title = Entrez Gene: COL8A1 collagen, type VIII, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1295| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same isoform have been observed.cite web | title = Entrez Gene: COL8A1 collagen, type VIII, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1295| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Shuttleworth CA |title=Type VIII collagen. |journal=Int. J. Biochem. Cell Biol. |volume=29 |issue= 10 |pages= 1145–8 |year= 1998 |pmid= 9438378 |doi=
*cite journal | author=Plenz GA, Deng MC, Robenek H, Völker W |title=Vascular collagens: spotlight on the role of type VIII collagen in atherogenesis. |journal=Atherosclerosis |volume=166 |issue= 1 |pages= 1–11 |year= 2003 |pmid= 12482545 |doi=
*cite journal | author=Muragaki Y, Mattei MG, Yamaguchi N, "et al." |title=The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. |journal=Eur. J. Biochem. |volume=197 |issue= 3 |pages= 615–22 |year= 1991 |pmid= 2029894 |doi=
*cite journal | author=Illidge C, Kielty C, Shuttleworth A |title=The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules. |journal=J. Biol. Chem. |volume=273 |issue= 34 |pages= 22091–5 |year= 1998 |pmid= 9705353 |doi=
*cite journal | author=Hou G, Mulholland D, Gronska MA, Bendeck MP |title=Type VIII collagen stimulates smooth muscle cell migration and matrix metalloproteinase synthesis after arterial injury. |journal=Am. J. Pathol. |volume=156 |issue= 2 |pages= 467–76 |year= 2000 |pmid= 10666376 |doi=
*cite journal | author=Leung EW, Rife L, Smith RE, Kay EP |title=Extracellular matrix components in retrocorneal fibrous membrane in comparison to corneal endothelium and Descemet's membrane. |journal=Mol. Vis. |volume=6 |issue= |pages= 15–23 |year= 2000 |pmid= 10731515 |doi=
*cite journal | author=de Vries CJ, van Achterberg TA, Horrevoets AJ, "et al." |title=Differential display identification of 40 genes with altered expression in activated human smooth muscle cells. Local expression in atherosclerotic lesions of smags, smooth muscle activation-specific genes. |journal=J. Biol. Chem. |volume=275 |issue= 31 |pages= 23939–47 |year= 2000 |pmid= 10823842 |doi= 10.1074/jbc.M910099199
*cite journal | author=Biswas S, Munier FL, Yardley J, "et al." |title=Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. |journal=Hum. Mol. Genet. |volume=10 |issue= 21 |pages= 2415–23 |year= 2002 |pmid= 11689488 |doi=
*cite journal | author=Wistow G, Bernstein SL, Wyatt MK, "et al." |title=Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue= |pages= 205–20 |year= 2002 |pmid= 12107410 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Kvansakul M, Bogin O, Hohenester E, Yayon A |title=Crystal structure of the collagen alpha1(VIII) NC1 trimer. |journal=Matrix Biol. |volume=22 |issue= 2 |pages= 145–52 |year= 2004 |pmid= 12782141 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Lim J, Hao T, Shaw C, "et al." |title=A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. |journal=Cell |volume=125 |issue= 4 |pages= 801–14 |year= 2006 |pmid= 16713569 |doi= 10.1016/j.cell.2006.03.032
*cite journal | author=Aldave AJ, Rayner SA, Salem AK, "et al." |title=No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 9 |pages= 3787–90 |year= 2006 |pmid= 16936088 |doi= 10.1167/iovs.05-1635
*cite journal | author=Aldave AJ, Bourla N, Yellore VS, "et al." |title=Keratoconus is not associated with mutations in COL8A1 and COL8A2. |journal=Cornea |volume=26 |issue= 8 |pages= 963–5 |year= 2007 |pmid= 17721297 |doi= 10.1097/ICO.0b013e31811dfaf7PBB_Controls
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