GATA6 haploinsufficiency causes pancreatic agenesis in humans.

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.

Flanagan, Sarah E (author)
Shaw-Smith, Charles (author)
De Franco, Elisa (author)
Akerman, Ildem (author)
Caswell, Richard (author)
Ferrer, Jorge (author)
Hattersley, Andrew T (author)
Ellard, Sian (author)
Adolfsson, Peter,1963Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xadolp (author)
Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik (creator_code:org_t)

In:Nature genetics: Springer Science and Business Media LLC44:1, s. 20-21546-17181061-4036

By the author/editor: Allen, Hana Lang ...; Flanagan, Sarah ...; Shaw-Smith, Char ...; De Franco, Elisa; Akerman, Ildem; Caswell, Richard; show more...; Ferrer, Jorge; Hattersley, Andr ...; Ellard, Sian; Adolfsson, Peter ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

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