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    • MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. 

      Iacovazzo, D.; Flanagan, S. E.; Walker, E.; Quezado, R.; de Sousa Barros, F. A.; Caswell, R.; Johnson, M. B.; Wakeling, M.; Brändle, M.; Guo, M.; Dang, M. N.; Gabrovska, P.; Niederle, B.; Christ, E.; Jenni, S.; Sipos, B.; Nieser, M.; Frilling, A.; Dhatariya, K.; Chanson, P.; de Herder, W. W.; Konukiewitz, B.; Klöppel, G.; Stein, R.; Korbonits, M.; Ellard, Sian (Proceedings of the National Academy of Sciences of the USA, 2018-01-30)
      The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ...