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

The gene KCNJ11 encodes Kir6.2 a major subunit of the ATP-sensitive potassium channel (K(ATP)) expressed in both the pancreas and brain. Heterozygous gain of function mutations in KCNJ11 can cause neonatal diabetes mellitus (NDM). In addition, many patients exhibit neurological defects ranging from...

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Detalles Bibliográficos
Autores principales: Dalgin, Gokhan, Tryba, Andrew K., Cohen, Ashley P., Park, Soo-Young, Philipson, Louis H., Greeley, Siri Atma W., Garcia, Alfredo J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566525/
https://www.ncbi.nlm.nih.gov/pubmed/34732776
http://dx.doi.org/10.1038/s41598-021-00939-7