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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: nicolino m. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9. Diabetes. 2015. PMID: 26159176 Free PMC article.
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Lytrivi M, Senée V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marín-Cañas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladrière L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, Julier C, Cnop M. Lytrivi M, et al. Among authors: nicolino m. Eur J Endocrinol. 2021 Mar;184(3):455-468. doi: 10.1530/EJE-20-0636. Eur J Endocrinol. 2021. PMID: 33486469
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: nicolino m. 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.
Wolcott-Rallison syndrome.
Julier C, Nicolino M. Julier C, et al. Among authors: nicolino m. 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.
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C. Dos Santos RS, et al. Among authors: nicolino m. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10. Diabetes. 2017. PMID: 28073829
153 results