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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Hum Mol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
General Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky