ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Previous issue | Volume 17 | ESPEYB17 | Next issue

Yearbook of Paediatric Endocrinology 2020

2. Antenatal and Neonatal Endocrinology

Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders

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Neonatal Diabetes Mellitus
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Gestational Diabetes Mellitus: Neonatal and Long-term Consequences

ey0017.2-11 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.11. Update of variants identified in the pancreatic [beta]-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco , C Saint-Martin , K Brusgaard , AE Knight Johnson , L Aguilar-Bryan , P Bowman , JB Arnoux , AR Larsen , S May , Saw Greeley , R Calzada-Leon , B Harman , JAL Houghton , Nishimura-Meguro , TW Laver , S Ellard , D Del Gaudio , HT Christesen , C Bellanne-Chantelot , SE Flanagan

To read the full abstract: Hum Mutat. 2020 May;41(5):884–905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. PMID: 32027066Pancreatic KATPchannels play a key role in regulating insulin secretion. These channels are composed of four subunits of SUR1 and four subunits of KIR6.2 encoded by the ABCC8 and KNCJ11 genes, respectively. Inactivating mutations in these two g...
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ey0017.2-12 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.12. Ion Transporters, channelopathies, and glucose disorders

H Demirbilek , S Galcheva , D Vuralli , S Al-Khawaga , K Hussain

To read the full abstract: Int J Mol Sci. 2019 May 27;20(10). pii: E2590. doi: 10.3390/ijms20102590. PMID:31137773.Ion channels and transporters play essential roles in excitable cells, including cardiac, skeletal and smooth muscle cells, neurons, and endocrine cells. In pancreatic beta-cells, KATPchannels link the metabolic signals generated inside the cell to changes in the beta-cell membra...
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ey0017.2-13 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.13. New insights into KATP channel gene mutations and neonatal diabetes mellitus

T Pipatpolkai , S Usher , PJ Stansfeld , FM Ashcroft

To read the full abstract: Nat Rev Endocrinol 2020 May 6. doi: 10.1038/s41574-020-0351-y. [Epub ahead of print]. PMID:32376986ATP-sensitive potassium (KATP) channels are composed of a pore-forming Kir6.2 potassium channel and a regulatory ABC transporter sulfonylurea receptor 1 (SUR1). This channel has a hetero-octameric structure compromising of four SUR1 subunits and four Ki...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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