Results 111 to 120 of about 2,517,817 (182)

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

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

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

Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice

, 2018
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy.
Ivask, M., Reimann, E., Pajusalu, S., Kõks, S.   +3 more
core  

<i>WFS1</i> gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report. [PDF]

World J Diabetes
Gao AM, Deng WL, Yang XP, Wu WY, Ma CY, Liu Y.   +5 more
europepmc   +1 more source

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus. [PDF]

Clin Case Rep, 2019
Papadimitriou DT, Kleanthous K, Manolakos E, Tiulpakov A, Nikolopoulos T, Delides A, Voros G, Dinopoulos A, Zoupanos G, Papadimitriou A, Mastorakos G, Urano F.   +11 more
europepmc   +1 more source

The Heterozygous p.A684V Variant in the <i>WFS1</i> Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype. [PDF]

Genes (Basel)
Otsuka S, Morimoto C, Nishio SY, Morita S, Kikuchi D, Takahashi M, Kumakawa K, Arai Y, Sano H, Yoshimura H, Yamamoto N, Kondo S, Hasegawa M, Nishi T, Kitahara T, Usami SI.   +15 more
europepmc   +1 more source

Deletion of <i>wfs1</i> Impairs Oligodendrocyte Precursor Cells Dorsal Distribution and Myelination Through the <i>wfs1</i>-<i>hmgcs1</i> Axis in Zebrafish. [PDF]

Biology (Basel)
Tang X, Zhao Z, Yao K, Fan D, Li K, Zhou J, Wang Z, Hu B.   +7 more
europepmc   +1 more source

Targeting WFS1 overcomes KRAS^G12D dependency and adaptive resistance to KRAS inhibition in pancreatic cancer. [PDF]

NPJ Precis Oncol
Chen Y, Zhang J, Miao Y, Wang J, Na J, Liu X, Yi Z, Chen H, Liu M.   +8 more
europepmc   +1 more source