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Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants.
Heller S, Melzer MK, Azoitei N, Julier C, Kleger A. Heller S, et al. Among authors: julier c. Front Endocrinol (Lausanne). 2021 May 17;12:648284. doi: 10.3389/fendo.2021.648284. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34079523 Free PMC article. Review.
Transcriptional changes and the role of ONECUT1 in hPSC pancreatic differentiation.
Heller S, Li Z, Lin Q, Geusz R, Breunig M, Hohwieler M, Zhang X, Nair GG, Seufferlein T, Hebrok M, Sander M, Julier C, Kleger A, Costa IG. Heller S, et al. Among authors: julier c. Commun Biol. 2021 Nov 17;4(1):1298. doi: 10.1038/s42003-021-02818-3. Commun Biol. 2021. PMID: 34789845 Free PMC article.
Mutations and variants of ONECUT1 in diabetes.
Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A. Philippi A, et al. Among authors: julier c. Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18. Nat Med. 2021. PMID: 34663987 Free PMC article.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yıldırım R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senée V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimäki-Vire J, Otonkoski T, Cnop M, Hattersley AT. De Franco E, et al. Among authors: julier c. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 Free PMC article.
Wolcott-Rallison syndrome.
Julier C, Nicolino M. Julier C, et al. Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Orphanet J Rare Dis. 2010. PMID: 21050479 Free PMC article. Review.
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C. Abdulkarim B, et al. Among authors: julier c. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9. Diabetes. 2015. PMID: 26159176 Free PMC article.
141 results