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15.2. Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

Chiou Joshua , Geusz Ryan J , Okino Mei-Lin , Han Jee Yun , Miller Michael , Melton Rebecca , Beebe Elisha , Benaglio Paola , Huang Serina , Korgaonkar Katha , Heller Sandra , Kleger Alexander , Preissl Sebastian , Gorkin David U , Sander Maike , Gaulton Kyle J

Nature. 2021 volume 594, 398402https://www.nature.com/articles/s41586-021-03552-wThe authors report a large genome-wide association study (GWAS) of type 1 diabetes (T1D) in 18 942 cases and 501 638 controls, finding 92 T1D-associated genomic loci (59 known and 33 novel). Furthermore they analyse DNA chromatin patterns in pancreas and peripheral white blood cells to help ident...

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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

15.2. Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

2.14. Mutations and variants of ONECUT1 in diabetes

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