Results 1 to 10 of about 2,696,264 (156)

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation. [PDF]

Hum Mol Genet, 2021
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,
Panfili E, Mondanelli G, Orabona C, Belladonna ML, Gargaro M, Fallarino F, Orecchini E, Prontera P, Proietti E, Frontino G, Tirelli E, Iacono A, Vacca C, Puccetti P, Grohmann U, Esposito S, Pallotta MT.   +16 more
europepmc   +4 more sources

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome. [PDF]

BMC Endocr Disord, 2021
Ren Z, Yi J, Zhong M, Wang Y, Liu Q, Wang X, Liu D, Ren W.   +7 more
europepmc   +1 more source

Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants

Medicina
Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children.
Alexandru Daniel Jurca, Larisa Bianca Galea-Holhos, Aurora Alexandra Jurca, Diter Atasie, Codruta Diana Petchesi, Emilia Severin, Claudia Maria Jurca   +6 more
doaj   +1 more source

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. [PDF]

Int J Mol Sci, 2021
Delvecchio M, Ortolani F, Palumbo O, Aloi C, Salina A, Susca FC, Palumbo P, Carella M, Resta N, Piccinno E.   +9 more
europepmc   +1 more source

RNASeq highlights ATF6 pathway regulators for CHO cell engineering with different impacts of ATF6β and WFS1 knockdown on fed-batch production of IgG1

Scientific Reports
Secretion levels required of industrial Chinese hamster ovary (CHO) cell lines can challenge endoplasmic reticulum (ER) homeostasis, and ER stress caused by accumulation of misfolded proteins can be a bottleneck in biomanufacturing.
Dyllan Rives, Caroline Peak, Mark A. Blenner   +2 more
doaj   +1 more source

PPARG, TMEM163, UBE2E2, and WFS1 Gene Polymorphisms Are Not Significant Risk Factors for Gestational Diabetes in the Polish Population. [PDF]

J Pers Med, 2022
Ustianowski P, Malinowski D, Safranow K, Dziedziejko V, Tarnowski M, Pawlik A.   +5 more
europepmc   +1 more source

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity). [PDF]

J Clin Lab Anal, 2020
Torkamandi S, Rezaei S, Mirfakhraie R, Bayat S, Piltan S, Gholami M.   +5 more
europepmc   +1 more source

WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A. [PDF]

Inflammation
Lin W, Qiu Y, Tan C, Liu Z, Yang Y, He Y, Zhao J, Cheng J, Wang Z, Li M, Wang L, Wang M, Zhang M.   +12 more
europepmc   +1 more source

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. [PDF]

Biomed Res Int, 2021
Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, Liu H, Li R, Neng L, Deng X, Xue B, Yu C, Tang W.   +12 more
europepmc   +1 more source

Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms and <i>WFS1</i> gene variant types. [PDF]

Front Genet
Oiknine L, Tang AF, Lee EM, Palaniappan N, Verma M, Vand K, Somalraju S, Chandra Janga S, Urano F.   +8 more
europepmc   +1 more source