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ey0018.2-6 | Neonatal hypoglycaemia | ESPEYB18

2.6. Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes.

S Tornovsky-Babeay , N Weinberg-Corem , R Ben-Haroush Schyr , D Avrahami , J Lavi , E Feleke , KH Kaestner , Y Dor , B Glaser

Diabetologia. 2021 May;64(5):1133-1143. doi: 10.1007/s00125-021-05390-x. PMID: 33558985.In order to gain some insight into the potential mechanism/s of diminished beta cell function over time, this mouse model of CHI was developed with an activating GCK (Glucokinase) mutation. In the short term, the mice developed mild fasting hypoglycaemia (this was very mild with fasting blood glucose...

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ey0015.2-11 | FOXP3 mutations lead to early onset diabetes mellitus with no other clinical manifestations | ESPEYB15

FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations

JL Hwang , SY Park , H Ye , M Sanyoura , AN Pastore , D Carmody , D Del Gaudio , JF Wilson , CL Hanis , X Liu , G Atzmon , B Glaser , LH Philipson , SAW Greeley , Consortium T2D-Genes

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...

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ESPE Yearbook of Paediatric Endocrinology

2.6. Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes.

FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations

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