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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Publicat a:Hum Mol Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2021
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General Article
Accés en línia: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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