Browsing by Author "Abdulkarim, B."

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    • A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. 

      Abdulkarim, B.; Nicolino, M.; Igoillo-Esteve, M.; Daures, M.; Romero, S.; Philippi, A.; Senée, V.; Lopes, M.; Cunha, D. A.; Harding, H. P.; Derbois, C.; Bendelac, N.; Hattersley, Andrew T.; Eizirik, D. L.; Ron, D.; Cnop, M.; Julier, C. (American Diabetes Association, 2015-11)
      Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation ...