Results 71 to 80 of about 5,423 (216)

WFS1 promoter is activated by valproate.

, 2013
SH-SY5Y cells were transfected with a reporter plasmid containing 500 bases of the WFS1 promoter driving the luciferase gene (pGL3-WFS1-long), a control reporter plasmid containing only 60 bases of the WFS1 promoter (pGL3-WFS1-short), or control plasmid (
Shinsuke Ishigaki (133010), Tadafumi Kato (19147), Sonya G. Fonseca (375193), Chihiro Kakiuchi (375191), Christine M. Oslowski (375192), Fumihiko Urano (40695)   +5 more
core   +1 more source

Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant

Stem Cell Research, 2023
Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells
Yen-Hui Chan, Cheng-Yu Tsai, Chang-Han Ho, Ying-Chang Lu, Pei-Hsuan Lin, Ta-Ching Chen, You-Tzung Chen, Cheng-Yen Huang, Tien-Chen Liu, Chuan-Jen Hsu, Chen-Chi Wu   +10 more
doaj   +1 more source

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology
WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (
J. Rohayem, O. Cunningham, Denise Williams, J. Wistuba, Liam McCarthy, T. Barrett, R. Dias   +6 more
semanticscholar   +1 more source

Mood stabilizers modulate the WFS1-GRP94 complex.

, 2013
(A) Neuro-2a cells were treated with lithium (Li, 0.5 mM, 1 mM), valproate (VPA, 50 ug/ml, 100 ug/ml) for 48 hr or untreated. Wfs1 was immunoprecipitated (IP) using lysates from the cells with anti-Wfs1 antibody.
Shinsuke Ishigaki (133010), Tadafumi Kato (19147), Sonya G. Fonseca (375193), Chihiro Kakiuchi (375191), Christine M. Oslowski (375192), Fumihiko Urano (40695)   +5 more
core   +1 more source

MyoD1 localization at the nuclear periphery is mediated by association of WFS1 with active enhancers

Nature Communications
Spatial organization of the mammalian genome influences gene expression and cell identity. While association of genes with the nuclear periphery is commonly linked to transcriptional repression, also active, expressed genes can localize at the nuclear ...
Konstantina Georgiou, Fatih Sarigol, Tobias Nimpf, Christian Knapp, Daria Filipczak, Roland Foisner, Nana Naetar   +6 more
semanticscholar   +1 more source

Highly Sensitive Spatial Host‐Microbiome Transcriptomics in FFPE Tissues via Iterative Hydrogel Expansion

Advanced Science, EarlyView.
Ex‐spRandom is a spatial transcriptomics platform that synergizes random‐primed chemistry with iterative hydrogel expansion. By physically decrowding the dense FFPE matrix, this scalable technology shatters the traditional resolution‐sensitivity barrier.
Shunji Zhang, Mengyuan Wang, Jiaye Chen, Yuyi Zhu, Bin Zhu, Ziye Xu, Yuan Liao, Yongcheng Wang   +7 more
wiley   +1 more source

WFS1 deficiency leads to impaired neuronal development.

, 2016
Primary cortical neurons were transfected with the neuronal marker pAAV-hSyn-DsRed1 and scrambled shRNA or Wfs1 shRNA at DIV (day in vitro) 1, and neuronal morphology was assessed at different time points.
Mailis Liiv (3151065), Michal Cagalinec (3151077), Allen Kaasik (504365), Zuzana Hodurova (3151083), Vinay Choubey (3151080), Annika Vaarmann (321196), Akbar Zeb (3151071), Malle Kuum (3151074), Vladimir Veksler (201015), Miriam Ann Hickey (3151068), Merle Mandel (578705), Dzhamilja Safiulina (504364), Eero Vasar (91530)   +12 more
core   +1 more source

A Case of Wolfram Syndrome from South India: Diabetologist’s Perspective

International Journal of Diabetes and Technology
Wolfram syndrome (WS), also called diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy, and deafness as well ...
Shahana Yasmin, R. Sreelakshmi, Gopika Krishnan, Jothydev Kesavadev   +3 more
doaj   +1 more source

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype

Genes
Background/Objectives: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy ...
Shintaro Otsuka, Chihiro Morimoto, S. Nishio, Shinya Morita, Daisuke Kikuchi, Masahiro Takahashi, K. Kumakawa, Yasuhiro Arai, H. Sano, Hidekane Yoshimura, N. Yamamoto, Shunsuke Kondo, M. Hasegawa, Tomo Nishi, Tadashi Kitahara, S. Usami   +15 more
semanticscholar   +1 more source

RGC cell density in Wfs1^−/− mice.

, 2014
Brn3a and total nuclei were counted in nerve fiber layer of 12 month retinal sections (A). RGC cell density is given as average Brn3a cell nuclei in 1000 pixel segments of retina (B).
Nesrine Benkafadar (563168), Delphine Bonnet Wersinger (563167), Cécile Delettre (563172), Jolanta Jagodzinska (563169), Christian Hamel (563170), Guy Lenaers (563171), Yukio Tanizawa (352650)   +6 more
core   +1 more source