Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress

Heterozygous variants in the hepatocyte nuclear factor 1a (HNF1a) cause MODY3 (maturity-onset diabetes of the young, type 3). In this study, we found a case of novel HNF1a p.Gln125* (HNF1a-Q125ter) variant clinically. However, the molecular mechanism linking the new HNF1a variant to impaired islet β...

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Detalles Bibliográficos
Autores principales: Chen, Yinling, Jia, Jianxin, Zhao, Qing, Zhang, Yuxian, Huang, Bingkun, Wang, Likun, Tian, Juanjuan, Huang, Caoxin, Li, Mingyu, Li, Xuejun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9656704/
https://www.ncbi.nlm.nih.gov/pubmed/36361808
http://dx.doi.org/10.3390/ijms232113022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9656704/
https://www.ncbi.nlm.nih.gov/pubmed/36361808
http://dx.doi.org/10.3390/ijms232113022

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