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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...
Autores principales: | Dalgin, Gokhan, Tryba, Andrew K., Cohen, Ashley P., Park, Soo-Young, Philipson, Louis H., Greeley, Siri Atma W., Garcia, Alfredo J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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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 |
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