YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

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 β cells. We identified 6 patients from 5 families with homozygous mutations in...

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Publié dans:J Clin Invest
Auteurs principaux: De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N., Fantuzzi, Federica, Patel, Kashyap, 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.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2020
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Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7685733/
https://ncbi.nlm.nih.gov/pubmed/33164986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI141455
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