Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity

Heterozygous coding sequence mutations of the INS gene are a cause of permanent neonatal diabetes (PNDM) that results from beta cell failure. We explored the causes of beta cell failure in two PNDM patients with two distinct INS mutations. Using b and mutated hESCs, we detected accumulation of misfo...

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Detalles Bibliográficos
Autores principales: Zhang, Yuwei, Sui, Lina, Du, Qian, Haataja, Leena, Yin, Yishu, Viola, Ryan, Xu, Shuangyi, Nielsson, Christian Ulrik, Leibel, Rudolph L., Barbetti, Fabrizio, Arvan, Peter, Egli, Dieter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515756/
https://www.ncbi.nlm.nih.gov/pubmed/37745320
http://dx.doi.org/10.1101/2023.09.01.555839

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515756/
https://www.ncbi.nlm.nih.gov/pubmed/37745320
http://dx.doi.org/10.1101/2023.09.01.555839

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