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Titel:

Mutations and variants of ONECUT1 in diabetes

Dokumenttyp:
Zeitschriftenaufsatz
Autor(en):
Philippi, Anne; Heller, Sandra; Costa, Ivan G.; Senée, Valérie; Breunig, Markus; Li, Zhijian; Kwon, Gino; Russell, Ronan; Illing, Anett; Lin, Qiong; Hohwieler, Meike; Degavre, Anne; Zalloua, Pierre; Liebau, Stefan; Schuster, Michael; Krumm, Johannes; Zhang, Xi; Geusz, Ryan; Benthuysen, Jacqueline R.; Wang, Allen; Chiou, Joshua; Gaulton, Kyle; Neubauer, Heike; Simon, Eric; Klein, Thomas; Wagner, Martin; Nair, Gopika; Besse, Céline; Dandine-Roulland, Claire; Olaso, Robert; Deleuze, Jean-François;...     »
Abstract:
Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes in heterozygous relatives. Heterozygous carriers of rare coding variants of ONECUT1 define a distinctive subgroup of diabetic patients with early-onset, nonautoim...     »
Stichworte:
BayBioMS; Disease genetics; Embryonic stem cells; Type 2 diabetes
Zeitschriftentitel:
Nature Medicine
Jahr:
2021
Volltext / DOI:
doi:10.1038/s41591-021-01502-7
Verlag / Institution:
Springer Science and Business Media LLC
E-ISSN:
1078-89561546-170X
Publikationsdatum:
18.10.2021
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