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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保存先:
書誌詳細
出版年:Hum Mol Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2021
主題:
General Article
オンライン･アクセス: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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