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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Detalhes bibliográficos
Publicado no:Diabetes
Main Authors: 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
Idioma:Inglês
Publicado em: American Diabetes Association 2018
Assuntos:
Genetics/Genomes/Proteomics/Metabolomics
Acesso em linha: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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