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GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium; Ferrer J, Hattersley AT, Ellard S. Allen HL, et al. Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035. Nat Genet. 2011. PMID: 22158542 Free PMC article.
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S. Flanagan SE, et al. Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273570 Free PMC article.
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.
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium; Ellard S, Ferrer J, Hattersley AT. Weedon MN, et al. Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10. Nat Genet. 2014. PMID: 24212882 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: caswell rc. 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.
84 results