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      GATA6 haploinsufficiency causes pancreatic agenesis in humans.

      Nature genetics
      GATA6 Transcription Factor, genetics, Haploinsufficiency, Humans, Pancreas, abnormalities, Phenotype

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          Abstract

          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.

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          Author and article information

          Journal
          22158542
          4062962
          10.1038/ng.1035

          Chemistry
          GATA6 Transcription Factor,genetics,Haploinsufficiency,Humans,Pancreas,abnormalities,Phenotype
          Chemistry
          GATA6 Transcription Factor, genetics, Haploinsufficiency, Humans, Pancreas, abnormalities, Phenotype

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