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12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

V Rusu , E Hoch , JM Mercader , DE Tenen , M Gymrek , CR Hartigan , M DeRan , M von Grotthuss , P Fontanillas , A Spooner , G Guzman , AA Deik , KA Pierce , C Dennis , CB Clish , SA Carr , BK Wagner , M Schenone , MCY Ng , BH Chen , M Consortium , STD Consortium , F Centeno-Cruz , C Zerrweck , L Orozco , DM Altshuler , SL Schreiber , JC Florez , SBR Jacobs , ES Lander

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

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ey0019.2-14 | Neonatal diabetes mellitus | ESPEYB19

2.14. Mutations and variants of ONECUT1 in diabetes

A Philippi , S Heller , IG Costa , V Senee , M Breunig , Z Li , G Kwon , R Russell , A Illing , Q Lin , M Hohwieler , A Degavre , P Zalloua , S Liebau , M Schuster , J Krumm , X Zhang , R Geusz , JR Benthuysen , A Wang , J Chiou , K Gaulton , H Neubauer , E Simon , T Klein , M Wagner , G Nair , C Besse , C Dandine-Roulland , R Olaso , JF Deleuze , B Kuster , M Hebrok , T Seufferlein , M Sander , BO Boehm , F Oswald , M Nicolino , C Julier , A Kleger

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

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ESPE Yearbook of Paediatric Endocrinology

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

2.14. Mutations and variants of ONECUT1 in diabetes

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