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ey0017.2-1 | Neonatal Hypoglycaemia | ESPEYB17

2.1. Clinical and genetic characterization of 153 patients with persistent or transient congenital hyperinsulinism

JME Mannisto , M Maria , J Raivo , T Kuulasmaa , T Otonkoski , H Huopio , Laakso

To read the full abstract: J Clin Endocrinol Metab. 2020 Apr 1;105(4). PMID: 32170320In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to persistent hypoglycaemia. Mutations in the ABCC8/KCNJ11 genes which encode the pancreatic KATP channels proteins (SUR1/KIR6.2 respectively) are the most common causes of CHI. Mutations ...

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ey0019.15-17 | Basic Science and Genetics | ESPEYB19

15.17. Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2

Krishnan K Chella , L Vergnes , R Acin-Perez , L Stiles , M Shum , L Ma , E Mouisel , C Pan , TM Moore , M Peterfy , CE Romanoski , K Reue , JLM Bjorkegren , M Laakso , M Liesa , AJ Lusis

Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with invol...

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ey0021.8-13 | New Hope | ESPEYB21

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

V Oikonomou , G Smith , GM Constantine , MM Schmitt , EMN Ferre , JC Alejo , D Riley , D Kumar , Dias L Dos Santos , J Pechacek , Y Hadjiyannis , T Webb , BA Seifert , R Ghosh , M Walkiewicz , D Martin , M Besnard , BD Snarr , S Deljookorani , CR Lee , T DiMaggio , P Barber , LB Rosen , A Cheng , A Rastegar , AA de Jesus , J Stoddard , HS Kuehn , TJ Break , HH Kong , L Castelo-Soccio , B Colton , BM Warner , DE Kleiner , MM Quezado , JL Davis , KP Fennelly , KN Olivier , SD Rosenzweig , AF Suffredini , MS Anderson , M Swidergall , C Guillonneau , LD Notarangelo , R Goldbach-Mansky , O Neth , MT Monserrat-Garcia , J Valverde-Fernandez , JM Lucena , AL Gomez-Gila , A Garcia Rojas , MRJ Seppanen , J Lohi , M Hero , S Laakso , P Klemetti , V Lundberg , O Ekwall , P Olbrich , KK Winer , B Afzali , NM Moutsopoulos , SM Holland , T Heller , S Pittaluga , MS Lionakis

Brief Summary: This study suggests that excessive interferon-γmediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γmediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...

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ESPE Yearbook of Paediatric Endocrinology

2.1. Clinical and genetic characterization of 153 patients with persistent or transient congenital hyperinsulinism

15.17. Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

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