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Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: bowman p. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
Heterozygous ABCC8 mutations are a cause of MODY.
Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S. Bowman P, et al. Diabetologia. 2012 Jan;55(1):123-7. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12. Diabetologia. 2012. PMID: 21989597
Psychiatric morbidity in children with KCNJ11 neonatal diabetes.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT. Bowman P, et al. Diabet Med. 2016 Oct;33(10):1387-91. doi: 10.1111/dme.13135. Epub 2016 May 21. Diabet Med. 2016. PMID: 27086753 Free PMC article.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Bowman P, et al. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Lancet Diabetes Endocrinol. 2018. PMID: 29880308 Free PMC article.
Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist.
Novak A, Bowman P, Kraljevic I, Tripolski M, Houghton JAL, De Franco E, Shepherd MH, Skrabic V, Patel KA. Novak A, et al. Among authors: bowman p. Can J Diabetes. 2020 Mar;44(2):128-130. doi: 10.1016/j.jcjd.2019.05.002. Epub 2019 May 11. Can J Diabetes. 2020. PMID: 31255515 Free PMC article. No abstract available.
Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways.
Bowman P, McDonald TJ, Knight BA, Flanagan SE, Leveridge M, Spaull SR, Shields BM, Hammersley S, Shepherd MH, Andrews RC, Patel KA, Hattersley AT. Bowman P, et al. BMJ Open Diabetes Res Care. 2019 Dec 18;7(1):e000721. doi: 10.1136/bmjdrc-2019-000721. eCollection 2019. BMJ Open Diabetes Res Care. 2019. PMID: 31908791 Free PMC article.
305 results