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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Vydáno v:Diabetes
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Diabetes Association 2018
Témata:
Genetics/Genomes/Proteomics/Metabolomics
On-line přístup: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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