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Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Day FR, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Small KS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB. Koprulu M, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2022 Mar 24;107(4):1065-1077. doi: 10.1210/clinem/dgab877. J Clin Endocrinol Metab. 2022. PMID: 34875679 Free PMC article.
Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits.
Powell BL, Haddad L, Bennett A, Gharani N, Sovio U, Groves CJ, Rush K, Goh MJ, Conway GS, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen AL, Halford S, Zeggini E, Järvelin MR, Franks S, McCarthy MI. Powell BL, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2005 May;90(5):2988-93. doi: 10.1210/jc.2004-2485. Epub 2005 Feb 10. J Clin Endocrinol Metab. 2005. PMID: 15705917
Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.
Gueorguiev M, Wiltshire S, Garcia EA, Mein C, Lecoeur C, Kristen B, Allotey R, Hattersley AT, Walker M, O'rahilly S, Froguel P, Grossman AB, McCarthy MI, Hitman GA, Korbonits M. Gueorguiev M, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2007 Jun;92(6):2201-4. doi: 10.1210/jc.2006-2657. Epub 2007 Mar 27. J Clin Endocrinol Metab. 2007. PMID: 17389697
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Smith GD, Hattersley AT, McCarthy MI. Frayling TM, et al. Among authors: mccarthy mi. Science. 2007 May 11;316(5826):889-94. doi: 10.1126/science.1141634. Epub 2007 Apr 12. Science. 2007. PMID: 17434869 Free PMC article.
Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years.
Das S, Bennett AJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Hartikainen AL, Franks S, Elliott P, Poulton J, Järvelin MR, McCarthy MI. Das S, et al. Among authors: mccarthy mi. J Clin Endocrinol Metab. 2007 Aug;92(8):3219-23. doi: 10.1210/jc.2007-0702. Epub 2007 May 29. J Clin Endocrinol Metab. 2007. PMID: 17535991
Common variants in WFS1 confer risk of type 2 diabetes.
Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I. Sandhu MS, et al. Among authors: mccarthy mi. Nat Genet. 2007 Aug;39(8):951-3. doi: 10.1038/ng2067. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603484 Free PMC article.
775 results