Results 91 to 100 of about 5,313 (208)

Common variants in WFS1 confer risk of type 2 diabetes

We studied genes involved in pancreatic β cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additional UK studies.
McCarthy MI, Tavendale R, Palmer CNA, Walker M, Barroso I, Hitman G, Blech I, Pharoah PD, Permutt MA, Fawcett KA, Neumann RJ, Weedon MN, Morris AD, Sandhu MS, Hattersley AT, Lango H, Daly A, Kimber C, Glaser B, Wareham NJ, Wasson J, Frayling TM, Debenham SL, Sherva R   +23 more
core   +5 more sources

Sublayer‐ and pathway‐specific control of CA1 input processing by VIP interneurons

The Journal of Physiology, Volume 604, Issue 18, Page 7890-7910, 15 September 2026.
Abstract figure legend Pathway‐ and sublayer‐specific regulation of CA1 pyramidal neurons by VIP interneurons. Left, schematic representation of the principal inhibitory circuit motifs formed by vasoactive intestinal peptide‐expressing interneurons (VIP‐INs) in hippocampal CA1.
Parisa Iloun, Jordan Grenier, Felix Veillette, Lisa Topolnik   +3 more
wiley   +1 more source

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome. [PDF]

PLoS Biology, 2016
Deficiency of the protein Wolfram syndrome 1 (WFS1) is associated with multiple neurological and psychiatric abnormalities similar to those observed in pathologies showing alterations in mitochondrial dynamics.
Michal Cagalinec, Mailis Liiv, Zuzana Hodurova, Miriam Ann Hickey, Annika Vaarmann, Merle Mandel, Akbar Zeb, Vinay Choubey, Malle Kuum, Dzhamilja Safiulina, Eero Vasar, Vladimir Veksler, Allen Kaasik   +12 more
doaj   +1 more source

Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome

Egyptian Journal of Medical Human Genetics
Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the diagnosis of the disorder.
Marziyeh Hoseinzadeh, Mohammad Mehdi Jahani, Samane Nasrniya, Mohammad Amin Tabatabaiefar   +3 more
semanticscholar   +1 more source

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

Genes, 2023
The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant.
H. Velde, Xanne J J Huizenga, H. Yntema, L. Haer-Wigman, A. Beynon, Jaap Oostrik, S. Pegge, H. Kremer, C. Lanting, R. Pennings   +9 more
semanticscholar   +1 more source

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome [PDF]

, 2023
Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident
Malgorzata Rak, Zatyka, Malgorzata, Correia, Joao, Rosenstock, Tatiana, Hughes, Georgina, Hoogenkamp, Maarten; id_orcid, Vesna Stanulovic, Ward, Douglas, Stanulovic, Vesna, Ward, Douglas G; id_orcid, Rosenstock, Tatiana R, Tatiana R. Rosenstock, Palhegyi, Adina, Hoogenkamp, Maarten, Hughes, Georgina W, Korsgen, Miriam E, Thiago Varga, Kocak, Gamze, Congxin Sun, Maarten Hoogenkamp, Laetitia Aubry, Aubry, Laetitia, Dewi Astuti, Barrett, Timothy; id_orcid, Margot Jarrige, Polvèche, Hélène, Barrett, Timothy, Miriam E. Korsgen, Gamze Kocak, Eva-Maria Frickel, Malgorzata Zatyka, Lara-Reyna, Samuel; id_orcid, Frickel, Eva-Maria, Sciauvaud, Axel, Varga, Thiago, Georgina W. Hughes, Zatyka, Malgorzata; id_orcid, Kocak, Gamze; id_orcid, Adina M. Palhegyi, Rak, Malgorzata, di Maio, Alessandro, Axel Sciauvaud, Sarkar, Sovan, Sandra Pourtoy-Brasselet, Katherine Winter, Jarrige, Margot, Alessandro di Maio, Samuel Lara-Reyna, Korsgen, Miriam, Sun, Congxin, Hélène Polvèche, Lara-Reyna, Samuel, Timothy Barrett, Douglas G. Ward, Sovan Sarkar, Joao Correia, Palhegyi, Adina M, Pourtoy-Brasselet, Sandra, Astuti, Dewi, Winter, Katherine   +59 more
core   +1 more source

An Integrated and Robust Deep Learning Framework for Denoising and Analyzing Single‐Cell Spatial Transcriptomics

Advanced Intelligent Systems, Volume 8, Issue 8, August 2026.
Single‐cell Spatial Transcriptomics Analysis and Denoising Engine is introduced as a unified deep learning framework that jointly performs denoising, clustering, and gene prioritization in spatial transcriptomics. By integrating linear and nonlinear representations within a dual‐channel architecture, it improves robustness and accuracy, uncovers ...
Yaxuan Cui, Yang Cui, Ruheng Wang, Xin Zeng, Zheyong Zhu, Ding Yi, Ruihua Guo, Tetsuya Sakurai, Kenta Nakai, Xiucai Ye, Leyi Wei, Yong Chen   +11 more
wiley   +1 more source

Regional Functional Molecular Profiles Within the Mammalian Cortex: A Commentary on Limbic Mesocortex

Journal of Comparative Neurology, Volume 534, Issue 8, August 2026.
Two lateral mouse brain sagittal sections labeled, respectively, for Lypd1 (A) and Kcnab3 (B). (A) Lypd1 labels positively cortical Layers 2 and 5 (less heavily), but only at limbic mesocortical sites, forming the limbic ring that separates the unlabeled isocortex (IsoCx) from the unlabeled hippocampal and olfactory allocortex (Hi, Sub, ERh; OlfCx ...
Luis Puelles, Elena Garcia‐Calero
wiley   +1 more source

The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants.

Diabetes & Metabolism
Wolfram syndrome 1 is an autosomal recessive disorder often commencing as insulin dependent diabetes, but with inherent progressive ultimately fatal neurodegeneration.
Eleni Papageorgiou, Panagiotis N. Toumasis, Aspasia Tsezou, E. Manolakos, Georgia Gazeti, E. Dardiotis, E. Arnaoutoglou, Aggeliki Alagianni, Argyro Petsiti, P. Stamati, Z. Tsouris, Aspasia N. Michoula, Sofia Androudi, Ioanna N. Grivea, Dimitrios T. Papadimitriou   +14 more
semanticscholar   +1 more source

Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program [PDF]

Diabetologia, 2007
Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is caused by mutations in the WFS1 gene. Recently, single nucleotide polymorphisms (SNPs) in WFS1 have been reproducibly associated with type 2 diabetes. We therefore examined the effects of these variants on diabetes incidence and response to interventions in the ...
J C, Florez, K A, Jablonski, J, McAteer, M S, Sandhu, N J, Wareham, I, Barroso, P W, Franks, D, Altshuler, W C, Knowler   +8 more
openaire   +2 more sources