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2008 1
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2019 3
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Page 1
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: sanyoura m. 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.
Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.
Letourneau LR, Carmody D, Wroblewski K, Denson AM, Sanyoura M, Naylor RN, Philipson LH, Greeley SAW. Letourneau LR, et al. Among authors: sanyoura m. Diabetes Care. 2017 Oct;40(10):e147-e148. doi: 10.2337/dc17-1145. Epub 2017 Aug 4. Diabetes Care. 2017. PMID: 28779000 Free PMC article. No abstract available.
Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.
Haliyur R, Tong X, Sanyoura M, Shrestha S, Lindner J, Saunders DC, Aramandla R, Poffenberger G, Redick SD, Bottino R, Prasad N, Levy SE, Blind RD, Harlan DM, Philipson LH, Stein RW, Brissova M, Powers AC. Haliyur R, et al. Among authors: sanyoura m. J Clin Invest. 2019 Jan 2;129(1):246-251. doi: 10.1172/JCI121994. Epub 2018 Dec 3. J Clin Invest. 2019. PMID: 30507613 Free PMC article.
α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes.
Brissova M, Haliyur R, Saunders D, Shrestha S, Dai C, Blodgett DM, Bottino R, Campbell-Thompson M, Aramandla R, Poffenberger G, Lindner J, Pan FC, von Herrath MG, Greiner DL, Shultz LD, Sanyoura M, Philipson LH, Atkinson M, Harlan DM, Levy SE, Prasad N, Stein R, Powers AC. Brissova M, et al. Among authors: sanyoura m. Cell Rep. 2018 Mar 6;22(10):2667-2676. doi: 10.1016/j.celrep.2018.02.032. Cell Rep. 2018. PMID: 29514095 Free PMC article.
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Aboud Syriani D, Wong D, Andani S, De Gusmao CM, Mao Y, Sanyoura M, Glotzer G, Lockhart PJ, Hassin-Baer S, Khurana V, Gomez CM, Perlman S, Das S, Fogel BL. Aboud Syriani D, et al. Among authors: sanyoura m. Neurol Genet. 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582864 Free PMC article.
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.
Kishore S, De Franco E, Cardenas-Diaz FL, Letourneau-Freiberg LR, Sanyoura M, Osorio-Quintero C, French DL, Greeley SAW, Hattersley AT, Gadue P. Kishore S, et al. Among authors: sanyoura m. Cell Stem Cell. 2020 Jul 2;27(1):137-146.e6. doi: 10.1016/j.stem.2020.05.001. Epub 2020 May 21. Cell Stem Cell. 2020. PMID: 32442395 Free PMC article.
20 results