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Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. Wakeling MN, et al. Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333503 Free PMC article.
PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.
Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN. Patel KA, et al. J Clin Endocrinol Metab. 2022 May 17;107(6):e2318-e2323. doi: 10.1210/clinem/dgac104. J Clin Endocrinol Metab. 2022. PMID: 35235652 Free PMC article.
Recurrent 17q12 microduplications contribute to renal disease but not diabetes.
Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, Patel K, Wright C, Weedon MN. Cannon S, et al. J Med Genet. 2023 May;60(5):491-497. doi: 10.1136/jmg-2022-108615. Epub 2022 Sep 15. J Med Genet. 2023. PMID: 36109160 Free PMC article.
12 results