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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. Cliffe ST, et al. Among authors: padidela r. Hum Mol Genet. 2009 Jun 15;18(12):2257-65. doi: 10.1093/hmg/ddp161. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336477
Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects.
Shi Y, Avatapalle HB, Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE, Dunne MJ, Banerjee I, Cosgrove KE. Shi Y, et al. Among authors: padidela r. J Pediatr. 2015 Jan;166(1):191-4. doi: 10.1016/j.jpeds.2014.09.019. Epub 2014 Oct 23. J Pediatr. 2015. PMID: 25444530 Free article.
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove KE, Dunne MJ, Banerjee I. Salomon-Estebanez M, et al. Among authors: padidela r. Orphanet J Rare Dis. 2016 Dec 1;11(1):163. doi: 10.1186/s13023-016-0547-3. Orphanet J Rare Dis. 2016. PMID: 27908292 Free PMC article.
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells.
Han B, Mohamed Z, Estebanez MS, Craigie RJ, Newbould M, Cheesman E, Padidela R, Skae M, Johnson M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ. Han B, et al. Among authors: padidela r. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267. doi: 10.1210/jc.2017-00158. J Clin Endocrinol Metab. 2017. PMID: 28605545 Free PMC article.
89 results