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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Research Article
Acesso em linha: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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