Recent Papers

Recent papers by Dr Tom Webb, Department of Cardiovascular Sciences, University of Leicester

Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators. Incl Samani NJ, Webb TR. 2016. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med. 374(12): 1134-44.

CARDIoGRAMplusC4D Consortium, Hall, LM, Nelson CP, Webb TR, NJ Samani, Goodall AH. 2015. A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet. 47(10): 1121-1130.

Brænne I, Civelek M, Vilne B, Di Narzo A, Johnson AD, Zhao Y, Reiz B, Codoni V, Webb TR, Foroughi Asl H, Hamby SE, Zeng L, Trégouët DA, Hao K, Topol EJ, Schadt EE, Yang X, Samani NJ, Björkegren JL, Erdmann J, Schunkert H, Lusis AJ. 2015. Prediction of Causal Candidate Genes in Coronary Artery Disease Loci. Arterioscler Thromb Vasc Biol. 35(10): 2207-17.

Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. 2012. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).  Hum Mol Genet. 21(16): 3647-54.

Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Anung T,  Yogarajah M, Robson AG, Holder GE,  Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, and Hardcastle AJ. 2012. X-linked Megalocornea caused by mutations in CHRDL1 identifies an essential role for Ventroptin in anterior segment development. Am J Hum Genet. 90(2): 247-59.

Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. 2012. A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5). Adv Exp Med Biol. 723: 595-601.

Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, and Hardcastle AJ. 2010. X-linked cone dystrophy caused by mutation of the red and green cone opsins. Am J Hum Genet. 87(1):26-39.

Webb TR and Clark AJL. 2010. The Melanocortin 2 receptor accessory proteins. Mol Endocrinol. 24(3): 475-484.

Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ. 2009. Blue cone monochromacy: causative mutations and associated phenotypes. Mol Vis. 15: 876-84.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. 2009. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 18(14): 2643-55.

Chan LF, Webb TR, Cooray SN, Guasti L, Chapple JP, Chung TT Egertova M, Elphick M, Cheetham ME, Metherall LA, and Clark AJL. 2009. MRAP and MRAP2 are bidirectional regulators of the Melanocortin receptor family. Proc Natl Acad Sci. 106(15): 6146-51.

Parfitt DA, Michael GJ, Vermeulen EG, Prodromou NV, Webb TR, Gallo JM, Cheetham ME, Nicoll WS, Blatch GL, Chapple JP. 2009. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Hum Mol Genet. 18(9): 1556-65.

Cooray SN, Chan L, Webb TR, Metherell L, Clark AJ. 2009. Accessory proteins are vital for the functional expression of certain G protein-coupled receptors. Mol Cell Endocrinol. 300(1-2): 17-24.

Webb TR, Chan L, Cooray S, Cheetham ME, Chapple JP and Clark AJL. 2009. Distinct MRAP domains are required for MC2R interaction and Promotion of receptor trafficking. Endocrinology. 150(2): 720-6.

Chung TT, Webb TR, Chan LF, Cooray SN, Metherall LA, King PJ, Chapple JP, and Clark AJL. 2008. The majority of ACTH receptor (MC2R) mutations found in Familial Glucocorticoid Deficiency type 1 lead to defective trafficking of the receptor to the cell surface. J Clin Endocrinol Metab. 93(12): 4948-54.

Webb TR, Cross SH, Mckie L, Edgar R, Vizor L, Harrison J, Peters J, and Jackson IJ. 2008. Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development. J Cell Sci. 121(19): 3140-3145.

Cooray SN, Almiro Do Vale I, Leung KY, Webb TR, Chapple JP, Egertova M, Cheetham ME, Elphick MR, and Clark AJL. 2008. The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse Y1 cell line. Endocrinology. 149(4): 1935-41.

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