Results 81 to 90 of about 5,313 (208)

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

The mediating role of genes in the influence of intestinal flora on type 2 diabetes and the screening of diagnostic markers

Journal of Diabetes Investigation, EarlyView.
Using Mendelian randomization, TWAS/eQTL analysis, machine learning, and single‐cell RNA sequencing, this study identified gut microbiota taxa causally linked to type 2 diabetes, candidate mediator genes, and diagnostic markers (BEND7, BLVRA, C1orf85, and LAMC1).
Yu‐yang Chen, Yi‐fan Shi, Xin‐yue Zhang, Jing‐yue Zhang, Shi‐mao Zhang, Heng‐xia Zhao, De‐liang Liu   +6 more
wiley   +1 more source

How big is enough? Movement‐informed zoning for African swine fever mitigation

Journal of Applied Ecology, Volume 63, Issue 9, September 2026.
Our results highlight the need for context‐specific adaptive infectious buffer area. 8 km buffers around infected carcasses can limit the risk of infected wild boar dispersal but can be reduced to 5 km in highly heterogeneous landscapes or areas of high human impact. Larger buffers may be required in agricultural landscapes.
Elodie Wielgus, Tsviatko Alexandrov, Marco Apollonio, Janosch Arnold, Grzegorz Bas, Eric Baubet, Simon Chamaillé‐Jammes, Attila Farkas, Claude Fischer, Klemen Jerina, Miloš Ježek, Petter Kjellander, Alisa Klamm, Stephanie Kramer‐Schadt, Alain Licoppe, Kevin Morelle, András Náhlik, Thomas Scheppers, Stefan Suter, Joaquín Vicente, Maik Henrich, Tobias Kürschner, Marco Heurich   +22 more
wiley   +1 more source

Expression of the diabetes risk gene wolframin (WFS1) in the human retina [PDF]

Experimental Eye Research, 2009
Wolfram syndrome 1 (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, deafness, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin. Non-syndromic WFS1 variants are associated with the risk of diabetes mellitus due to altered function of wolframin in pancreatic islet cells ...
Schmidt-Kastner, Rainald, Kreczmanski, Pawel, Preising, Markus, Diederen, Roselie, Schmitz, Christoph, Reis, Danielle, Blanks, Janet, Dorey, C Kathleen   +7 more
openaire   +2 more sources

Effect of Chronic Valproic Acid Treatment on Hepatic Gene Expression Profile in Wfs1 Knockout Mouse

PPAR Research, 2014
Valproic acid (VPA) is a widely used anticonvulsant and mood-stabilizing drug whose use is often associated with drug-induced weight gain. Treatment with VPA has been shown to upregulate Wfs1 expression in vitro.
Marite Punapart, Mall Eltermaa, Julia Oflijan, Silva Sütt, Anne Must, Sulev Kõks, Leonard C. Schalkwyk, Catherine Fernandes, Eero Vasar, Ursel Soomets, Anton Terasmaa   +10 more
doaj   +1 more source

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

medRxiv
Objective: Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural hearing loss, optic
J. Roberts, Abby F. Tang, D. Hernandez, B. Carman, Liam Oiknine, Cris M. Brown, S. Hurst, Fumihiko Urano   +7 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

A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets ...
Ayca Kocaaga, Sevgi Yimenicioglu, Murat Bayav   +2 more
doaj   +1 more source

Impaired Compensatory Vasodilatory Effect Mediated by Wolfram Syndrome 1 and Corticotropin-Releasing Hormone Family Peptides in 17α-Ethynylestradiol-Induced Intrahepatic Cholestasis Pregnant Rats When Under Additional Acute Hypoxia Stress

Maternal-Fetal Medicine, 2022
. Objective:. To investigate the possible regulatory mechanism of corticotropin-releasing hormone (CRH), urocortin (UCN), and Wolfram syndrome 1 (WFS1) in 17α-ethynylestradiol (EE)-induced intrahepatic cholestasis pregnant rats and its ischemia ...
Tingting Xu, Daijuan Chen, Xixi Deng, Yongchi Zhan, Fan Zhou, Xiaodong Wang, Dandan Shi   +6 more
doaj   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, Volume 293, Issue 18, Page 5481-5513, September 2026.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source