Article
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Diabetologia - 1 Mar 2013
Bonnefond A, Yengo L, Philippe J, Dechaume A, Ezzidi I, Vaillant E, Gjesing A P, Andersson E A, Czernichow S, Hercberg S, Hadjadj S, Charpentier G, Lantieri O, Balkau B, Marre M, Pedersen O, Hansen T, Froguel P, Vaxillaire M
Abstract excerpt
AIMS/HYPOTHESIS: MODY is believed to be caused by at least 13 different genes. Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families. The p.A71T mutation was shown to abolish the enhancing effect of BLK on insulin content and secretion from pancreatic beta cell lines. Here, we reassessed the contribution of BLK to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.