A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study

Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an...

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Detalles Bibliográficos
Publicado en:Diabetes
Autores principales: Latva-Rasku, Aino, Honka, Miikka-Juhani, Stančáková, Alena, Koistinen, Heikki A., Kuusisto, Johanna, Guan, Li, Manning, Alisa K., Stringham, Heather, Gloyn, Anna L., Lindgren, Cecilia M., Collins, Francis S., Mohlke, Karen L., Scott, Laura J., Karjalainen, Tomi, Nummenmaa, Lauri, Boehnke, Michael, Nuutila, Pirjo, Laakso, Markku
Formato: Artigo
Lenguaje:Inglês
Publicado: American Diabetes Association 2018
Materias:
Genetics/Genomes/Proteomics/Metabolomics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5780065/
https://ncbi.nlm.nih.gov/pubmed/29141982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db17-1142
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