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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Burkitt Wright EMM, et al. Among authors: spencer hl. Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Am J Hum Genet. 2011. PMID: 21664999 Free PMC article.
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC. Burkitt Wright EM, et al. Among authors: spencer hl. Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Orphanet J Rare Dis. 2013. PMID: 23642083 Free PMC article. Review.
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C. Rohrbach M, et al. Among authors: spencer hl. Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26. Mol Genet Metab. 2013. PMID: 23680354 Free PMC article.
Role of TPBG (Trophoblast Glycoprotein) Antigen in Human Pericyte Migratory and Angiogenic Activity.
Spencer HL, Jover E, Cathery W, Avolio E, Rodriguez-Arabaolaza I, Thomas AC, Alvino VV, Sala-Newby G, Dang Z, Fagnano M, Reni C, Rowlinson J, Vono R, Spinetti G, Beltrami AP, Gargioli C, Caporali A, Angelini G, Madeddu P. Spencer HL, et al. Arterioscler Thromb Vasc Biol. 2019 Jun;39(6):1113-1124. doi: 10.1161/ATVBAHA.119.312665. Arterioscler Thromb Vasc Biol. 2019. PMID: 31018661 Free article.
39 results