Abstract Search

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...

0 shares

ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):63386353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...

0 shares

ESPE Yearbook of Paediatric Endocrinology

2.14. Mutations and variants of ONECUT1 in diabetes

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

BiosciAbstracts