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A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Palomino Doza J, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B. Goodship JA, et al. Among authors: relton cl. Circ Cardiovasc Genet. 2012 Jun;5(3):287-92. doi: 10.1161/CIRCGENETICS.111.962035. Epub 2012 Apr 13. Circ Cardiovasc Genet. 2012. PMID: 22503907 Free PMC article.
Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema.
Brown SJ, Sandilands A, Zhao Y, Liao H, Relton CL, Meggitt SJ, Trembath RC, Barker JN, Reynolds NJ, Cordell HJ, McLean WH. Brown SJ, et al. Among authors: relton cl. J Invest Dermatol. 2008 Jun;128(6):1591-4. doi: 10.1038/sj.jid.5701206. Epub 2007 Dec 20. J Invest Dermatol. 2008. PMID: 18094728 Free article. No abstract available.
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.
Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, McLean WH, Cordell HJ, Reynolds NJ. Brown SJ, et al. Among authors: relton cl. Br J Dermatol. 2009 Oct;161(4):884-9. doi: 10.1111/j.1365-2133.2009.09339.x. Epub 2009 Jun 11. Br J Dermatol. 2009. PMID: 19681860 Free PMC article.
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Yanes MP, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC); Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thiering E… See abstract for full author list ➔ Paternoster L, et al. Among authors: relton cl. Nat Genet. 2015 Dec;47(12):1449-1456. doi: 10.1038/ng.3424. Epub 2015 Oct 19. Nat Genet. 2015. PMID: 26482879 Free PMC article.
337 results