Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins

Loss-of-function mutations in hepatocyte nuclear factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare, protein-coding HNF1A variant, most of unknown functional consequence. To ch...

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Detalles Bibliográficos
Autores principales: DeForest, Natalie, Kavitha, Babu, Hu, Siqi, Isaac, Roi, Krohn, Lynne, Wang, Minxian, Du, Xiaomi, De Arruda Saldanha, Camila, Gylys, Jenny, Merli, Edoardo, Abagyan, Ruben, Najmi, Laeya, Mohan, Viswanathan, Flannick, Jason, Peloso, Gina M., Gordts, Philip L.S.M., Heinz, Sven, Deaton, Aimee M., Khera, Amit V., Olefsky, Jerrold, Radha, Venkatesan, Majithia, Amit R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10363808/
https://www.ncbi.nlm.nih.gov/pubmed/37492105
http://dx.doi.org/10.1016/j.xgen.2023.100339

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