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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Among authors: urano f. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 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.
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM, Koller JM, Rutlin J, Marshall BA, Kanekura K, Urano F, Bischoff AN, Shimony JS, Hershey T; Washington University Wolfram Syndrome Research Study Group. Lugar HM, et al. Among authors: urano f. Sci Rep. 2016 Feb 18;6:21167. doi: 10.1038/srep21167. Sci Rep. 2016. PMID: 26888576 Free PMC article. Clinical Trial.
Monogenic and syndromic diabetes due to endoplasmic reticulum stress.
Stone SI, Abreu D, McGill JB, Urano F. Stone SI, et al. Among authors: urano f. J Diabetes Complications. 2021 Jan;35(1):107618. doi: 10.1016/j.jdiacomp.2020.107618. Epub 2020 May 8. J Diabetes Complications. 2021. PMID: 32518033 Free PMC article.
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, Brown CM, Kries K, Onwumere C, Gu H, Hoekel J, Tychsen L, Van Stavern GP, White NH, Marshall BA, Hershey T, Urano F. Abreu D, et al. Among authors: urano f. JCI Insight. 2021 Aug 9;6(15):e145188. doi: 10.1172/jci.insight.145188. JCI Insight. 2021. PMID: 34185708 Free PMC article. Clinical Trial.
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. De Franco E, et al. Among authors: urano f. Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3. Diabetes. 2017. PMID: 28468959 Free PMC article.
201 results