ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 2 results

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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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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