Results 51 to 60 of about 2,517,817 (182)

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

BMC Medical Genetics, 2008
Background Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL.
Verrall Aimee M, Kallman Jeremy C, Bramhall Naomi F, Street Valerie A   +3 more
doaj   +1 more source

The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians

Frontiers in Endocrinology, 2023
The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characterized by childhood-onset diabetes mellitus, optic atrophy, and deafness.
Maha M. Hammad, Maha M. Hammad, Mohamed Abu-Farha, Prashantha Hebbar, Emil Anoop, Betty Chandy, Motasem Melhem, Arshad Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubaker   +10 more
doaj   +1 more source

WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal model [PDF]

Molecular Psychiatry, 2007
Post-traumatic stress disorder (PTSD) is an anxiety disorder that may develop after the experiencing or witnessing of a life-threatening event. PTSD is defined by the coexistence of three clusters of symptoms: re-experiencing, avoidance and hyperarousal, which persist for at least 1 month in survivors of the event (Diagnostic and Statistical Manual of ...
Y, Kesner, J, Zohar, A, Merenlender, I, Gispan, F, Shalit, G, Yadid   +5 more
openaire   +2 more sources

Wfs1-deficient mice display altered function of serotonergic system and increased behavioural response to antidepressants

Frontiers in Neuroscience, 2013
It has been shown that mutations in the WFS1 gene make humans more susceptible to mood disorders. Besides that, mood disorders are associated with alterations in the activity of serotonergic and noradrenergic systems.
Tanel eVisnapuu, Tanel eVisnapuu, Sirli eRaud, Sirli eRaud, Maarja eLoomets, Maarja eLoomets, Riin eReimets, Riin eReimets, Silva eSütt, Silva eSütt, Hendrik eLuuk, Hendrik eLuuk, Mario ePlaas, Mario ePlaas, Sulev eKõks, Sulev eKõks, Vallo eVolke, Vallo eVolke, Aet eAlttoa, Jaanus eHarro, Eero eVasar, Eero eVasar   +21 more
doaj   +1 more source

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

JCI Insight, 2022
Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris M. Brown, Punn Augsornworawat, Yoel Hirsch, Martin M. Johansson, Tzvi Weiden, Joseph Ekstein, Joshua Cohen, Justin Klee, Kent Leslie, Anton Simeonov, Mark J. Henderson, Jeffrey R. Millman, Fumihiko Urano   +16 more
doaj   +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

RNA-sequencing of WFS1-deficient pancreatic islets [PDF]

, 2016
Wolfram syndrome, an autosomal recessive disorder characterized by juvenile-onset diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene. WFS1 encodes an endoplasmic reticulum resident transmembrane protein.
Ivask, M., Kõks, S, Hugill, A, Hugill, A., Ivask, M, Kõks, S.   +5 more
core   +1 more source

Common variants in WFS1 confer risk of type 2 diabetes [PDF]

, 2007
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.
Wasson, J, Sally L Debenham, Sherva, R, Manjinder S Sandhu, Daly, Allan, Allan Daly, Weedon, Michael N., Weedon, MN, Hana Lango, Morris, Andrew D., Nicholas J Wareham, Richard Sherva, Timothy M Frayling, Barroso, I, Mark Walker, Tavendale, R, Debenham, Sally L., Palmer, Colin N A, Hitman, G, Neumann, RJ, Palmer, Colin N.A.; id_orcid, Sandhu, MS, Sandhu, Manjinder S., Kimber, C, Hattersley, Andrew T., Permutt, M. Alan, Glaser, Benjamin, Graham Hitman, Wareham, Nicholas J., Fawcett, Katherine A., Colin N A Palmer, Inês Barroso, Sherva, Richard, Lango, H, Debenham, SL, Andrew D Morris, Tavendale, Roger, Michael N Weedon, Ilana Blech, Permutt, MA, Walker, Mark, Paul D Pharoah, Palmer, CN, Hattersley, AT, Pharoah, Paul D., McCarthy, MI, Hitman, Graham, Blech, Ilana, Mark I McCarthy, Barroso, Inês, Walker, M, Fawcett, KA, Wasson, Jon, Kimber, Charlotte, Frayling, Timothy M., Glaser, B, Roger Tavendale, Blech, I, Andrew T Hattersley, M Alan Permutt, Lango, Hana, Morris, AD, Benjamin Glaser, Neumann, Rosalind J., McCarthy, Mark I., Jon Wasson, Daly, A, Wareham, NJ, Pharoah, PD, Frayling, TM, Rosalind J Neumann, Katherine A Fawcett, Charlotte Kimber   +72 more
core   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Seminal Biomarkers and Sperm Proteomic Signatures Differentiate Acute and Chronic Male Accessory Gland Inflammation

Andrology, EarlyView.
ABSTRACT Background Male accessory gland inflammation (MAGI) comprises a heterogeneous group of inflammatory conditions that may differentially affect the seminal microenvironment and sperm function. However, whether transrectal ultrasound (TRUS)‐defined MAGI phenotypes correspond to distinct biological profiles remains insufficiently characterized ...
Emanuela Teveroni, Fiorella Di Nicuolo, Giorgia Mazzuccato, Alessandro Oliva, Emanuele Pierpaolo Vodola, Francesca Mancini, Carla Di Nardo, Edoardo Vergani, Michela Cicchinelli, Federica Iavarone, Cassandra Serantoni, Giuseppe Maulucci, Alessia Riente, Alfredo Pontecorvi, Andrea Urbani, Domenico Milardi, Silvia Baroni   +16 more
wiley   +1 more source