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Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M. Bonnycastle LL, et al. Among authors: urano f. Diabetes. 2013 Nov;62(11):3943-50. doi: 10.2337/db13-0571. Epub 2013 Jul 31. Diabetes. 2013. PMID: 23903355 Free PMC article.
A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, Martinez R, Yamazaki-Inoue M, Toyoda M, Neilson A, Blanner P, Brown CM, Semenkovich CF, Marshall BA, Hershey T, Umezawa A, Greer PA, Urano F. Lu S, et al. Among authors: urano f. Proc Natl Acad Sci U S A. 2014 Dec 9;111(49):E5292-301. doi: 10.1073/pnas.1421055111. Epub 2014 Nov 24. Proc Natl Acad Sci U S A. 2014. PMID: 25422446 Free PMC article.
Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.
Papadimitriou DT, Manolakos E, Bothou C, Zoupanos G, Papoulidis I, Orru S, Skarmoutsos F, Delides A, Bakoula C, Papadimitriou A, Urano F. Papadimitriou DT, et al. Among authors: urano f. Diabetes Metab. 2015 Nov;41(5):433-5. doi: 10.1016/j.diabet.2015.06.003. Epub 2015 Jul 10. Diabetes Metab. 2015. PMID: 26169481 No abstract available.
200 results