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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. Weedon MN, et al. Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. Nat Genet. 2013. PMID: 23770608 Free PMC article.
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. Hamilton AJ, et al. Among authors: weedon mn. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285859 Free PMC article.
Clinical Features and HLA Association of 5-Aminosalicylate (5-ASA)-induced Nephrotoxicity in Inflammatory Bowel Disease.
Heap GA, So K, Weedon M, Edney N, Bewshea C, Singh A, Annese V, Beckly J, Buurman D, Chaudhary R, Cole AT, Cooper SC, Creed T, Cummings F, de Boer NK, D'Inca R, D'Souza R, Daneshmend TK, Delaney M, Dhar A, Direkze N, Dunckley P, Gaya DR, Gearry R, Gore S, Halfvarson J, Hart A, Hawkey CJ, Hoentjen F, Iqbal T, Irving P, Lal S, Lawrance I, Lees CW, Lockett M, Mann S, Mansfield J, Mowat C, Mulgrew CJ, Muller F, Murray C, Oram R, Orchard T, Parkes M, Phillips R, Pollok R, Radford-Smith G, Sebastian S, Sen S, Shirazi T, Silverberg M, Solomon L, Sturniolo GC, Thomas M, Tremelling M, Tsianos EV, Watts D, Weaver S, Weersma RK, Wesley E, Holden A, Ahmad T. Heap GA, et al. J Crohns Colitis. 2016 Feb;10(2):149-58. doi: 10.1093/ecco-jcc/jjv219. Epub 2015 Nov 29. J Crohns Colitis. 2016. PMID: 26619893
Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants.
Pilling LC, Atkins JL, Bowman K, Jones SE, Tyrrell J, Beaumont RN, Ruth KS, Tuke MA, Yaghootkar H, Wood AR, Freathy RM, Murray A, Weedon MN, Xue L, Lunetta K, Murabito JM, Harries LW, Robine JM, Brayne C, Kuchel GA, Ferrucci L, Frayling TM, Melzer D. Pilling LC, et al. Among authors: weedon mn. Aging (Albany NY). 2016 Mar;8(3):547-60. doi: 10.18632/aging.100930. Aging (Albany NY). 2016. PMID: 27015805 Free PMC article.
299 results