Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus...

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Publicado en:Hum Mol Genet
Main Authors: Panfili, Eleonora, Mondanelli, Giada, Orabona, Ciriana, Belladonna, Maria L, Gargaro, Marco, Fallarino, Francesca, Orecchini, Elena, Prontera, Paolo, Proietti, Elisa, Frontino, Giulio, Tirelli, Eva, Iacono, Alberta, Vacca, Carmine, Puccetti, Paolo, Grohmann, Ursula, Esposito, Susanna, Pallotta, Maria T
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2021
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General Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8091036/
https://ncbi.nlm.nih.gov/pubmed/33693650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab040
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