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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
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 |
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