Journal
NATURE GENETICS
Volume 44, Issue 1, Pages 20-22Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.1035
Keywords
-
Categories
Funding
- Diabetes UK
- Wellcome Research Leave Award for Clinical Academics [067463/Z/2/Z]
- European Community [223211, FP7-PEOPLE-ITN-2008]
- Diabetes UK [11/0004193] Funding Source: researchfish
Ask authors/readers for more resources
Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin. We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals with pancreatic agenesis. These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available