Titre:
  • YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
Auteur:De Franco, Elisa; Lytrivi, Maria; Ibrahim, Hazem; Montaser, Hossam El-dien; Wakeling, Matthew MN; Fantuzzi, Federica; Patel, Kashyap A.; Demarez, Céline; Cai, Ying; Igoillo Esteve, Mariana; Cosentino, Cristina; Lithovius, Väinö; Vihinen, Helena; Jokitalo, Eija; Laver, Thomas W; Johnson, Matthew B; Sawatani, Toshiaki; Shakeri, Hadis; Pachera, Nathalie; Haliloglu, Belma; Ozbek, Mehmet Nuri; Unal, Edip; Yıldırım, Ruken; Godbole, Tushar; Yildiz, Melek; Aydin, Banu; Bilheu, Angeline; Suzuki, Ikuo; Flanagan, Sarah E.; Vanderhaeghen, Pierre; Senée, Valérie; Julier, Cécile; Marchetti, Piero; Eizirik, Decio L.; Ellard, Sian; Saarimäki-Vire, Jonna; Otonkoski, Timo; Cnop, Miriam; Hattersley, Andrew T
Informations sur la publication:The Journal of clinical investigation, 130, 12, page (6338-6353)
Statut de publication:Publié, 2020-12-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Cell Biology
Cell stress
Diabetes
Genetics
Human stem cells
Note générale:Miriam Cnop, Timo Otonkoski and Andrew T. Hattersley share corresponding authorship
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0021-9738
info:doi/10.1172/JCI141455
info:pii/141455
info:scp/85097112734
info:pmid/33164986