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ey0019.2-8 | Neonatal hypoglycaemia | ESPEYB19

2.8. CRISPR/Cas9 ADCY7 knockout stimulates the insulin secretion pathway leading to excessive insulin secretion

Y Alhaidan , HT Christesen , E Lundberg , MAA Balwi , K Brusgaard

Front Endocrinol (Lausanne). 2021 Jun 11;12:657873. doi: 10.3389/fendo.2021.657873. PMID: 34177802.Brief Summary: This is a single case report describing a possible new candidate gene (ADCY7) for congenital hyperinsulinism. Mutations in the ADCY7 gene may be a new cause of congenital hyperinsulinism but more cases are needed and the molecular mechanisms studied in more det...

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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 K_ATPchannel 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):884905. 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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ESPE Yearbook of Paediatric Endocrinology

2.8. CRISPR/Cas9 ADCY7 knockout stimulates the insulin secretion pathway leading to excessive insulin secretion

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

BiosciAbstracts

ESPE Yearbook of Paediatric Endocrinology

2.8. CRISPR/Cas9 ADCY7 knockout stimulates the insulin secretion pathway leading to excessive insulin secretion

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

BiosciAbstracts

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