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ey0019.2-12 | Neonatal diabetes mellitus | ESPEYB19

2.12. Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes

G Dalgin , AK Tryba , AP Cohen , SY Park , LH Philipson , SAW Greeley , AJ 3rd Garcia

Sci Rep. 2021 Nov 3;11(1):21590. doi: 10.1038/s41598-021-00939-7. PMID: 34732776.Brief Summary: This study describes the molecular and electrophysiological analysis of the cerebral network generated from cerebral organoids from human induced pluripotent stem cells (hiPSCs) on a patient with neonatal diabetes mellitus due to a KCNJ11 mutation. Some patients w...

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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

2.12. Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes

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

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