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ey0017.2-7 | Neonatal Diabetes Mellitus | ESPEYB17

2.7. De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction

E De Franco , R Caswell , MB Johnson , MN Wakeling , A Zung , VC Dung , CT Bich Ngoc , R Goonetilleke , M Vivanco Jury , M El-Khateeb , S Ellard , SE Flanagan , D Ron , AT Hattersley

To read the full abstract: Diabetes. 2020 Mar;69(3):477483. doi: 10.2337/db19-1029. Epub 2019 Dec 27. PMID: 31882561Endoplasmic recticulum (ER) stress plays an important role in the etiology of several forms of diabetes mellitus. There is evidence that ER stress plays a role in both type 1 and type 2 diabetes. More importantly molecular defects in the ER stress pathway are linked to monoge...

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ey0016.2-7 | Neonatal Diabetes Mellitus | ESPEYB16

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

E De Franco , RA Watson , WJ Weninger , CC Wong , SE Flanagan , R Caswell , A Green , C Tudor , CJ Lelliott , SH Geyer , B Maurer-Gesek , LF Reissig , H Lango Allen , A Caliebe , R Siebert , PM Holterhus , A Deeb , F Prin , R Hilbrands , H Heimberg , S Ellard , AT Hattersley , I Barroso

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...

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ey0015.2-1 | A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys | ESPEYB15

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

OR Cabezas , SE Flanagan , H Stanescu , E García-Martínez , R Caswell , H Lango-Allen , M Antón-Gamero , J Argente , AM Bussell , A Brandli , C Cheshire , E Crowne , S Dumitriu , R Drynda , JP Hamilton-Shield , W Hayes , A Hofherr , D Iancu , N Issler , C Jefferies , P Jones , M Johnson , A Kesselheim , E Klootwijk , M Koettgen , W Lewis , JM Martos , M Mozere , J Norman , V Patel , A Parrish , C Pérez-Cerdá , J Pozo , SA Rahman , N Sebire , M Tekman , PD Turnpenny , WV Hoff , DHHM Viering , MN Weedon , P Wilson , L Guay-Woodford , R Kleta , K Hussain , S Ellard , D Bockenhauer

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...

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ESPE Yearbook of Paediatric Endocrinology

2.7. De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

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