Browsing by Author "Ibrahim, Hazem"
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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
de Franco, Elisa; Lytrivi, Maria; Ibrahim, Hazem; Montaser, Hossam; Wakeling, Matthew Neil; Fantuzzi, Federica; Patel, Kashyap A.; Demarez, Céline; Cai, Ying; Igoillo-Esteve, Mariana; Cosentino, Cristina; Lithovius, Väinö; Vihinen, Helena; Jokitalo, Eija; Laver, Thomas William; Johnson, Matthew B.; Sawatani, Toshiaki; Shakeri, Hadis; Pachera, Nathalie; Haliloǧlu, Belma; Özbek, Mehmet Nuri; Ünal, Edip; Yıldırım, Ruken; Godbole, Tushar R.; Yıldız, Melek; Aydın, Banu Küçükemre; Bilheu, Angéline; Suzuki, Ikuo K. (American Society for Clinical Investigation, 2020)Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in ...
