Results 81 to 90 of about 5,423 (216)

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

Photoreceptor and inner retinal functions in Wfs1^−/− mice.

, 2014
Photoreceptor and inner retina electroretinogram data are presented in panels A and B, from ERG a- and b-wave respectively, on Wfs1+/+ and −/− mice. Both waves are represented by mean values of amplitudes and latencies at the ages of 3 (n = 10 Wfs1+/+, n 
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

NEUROD1 and PDX1 are low penetrance causes of MODY while rare variants in APPL1 and WFS1 are not associated with MODY

medRxiv
An accurate genetic diagnosis of Maturity-Onset Diabetes of the Young (MODY) is critical for personalised treatment. To avoid misdiagnosis, only genes with strong evidence of causality must be tested.
A. Sriram, M. Wakeling, A. Hattersley, M. Weedon, K. Colclough, T. Laver, K. Patel   +6 more
semanticscholar   +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

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

Integrated scRNA‐Seq and Spatial Transcriptomics Reveal CHPF and GPC1 as Markers of Cancer‐Associated Fibroblast–Dominant Domains in Colorectal Cancer

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Spatial heterogeneity in the colorectal cancer (CRC) tumor microenvironment (TME) is closely related to stromal organization and may influence treatment‐related features. In this study, we integrated single‐cell RNA sequencing and spatial transcriptomic data from CRC tissues to examine cancer‐associated fibroblast (CAF)‐dominant spatial ...
Yuan‐jie Liu, Qian‐wen Ye, Hui Zhang, Ning Yang, Yang Li, Jie‐pin Li   +5 more
wiley   +1 more source

WFS1 mutations in each patient with WFS.

, 2014
*Novel mutations are indicated in boldface.§Individual with detectable WFS1 mutation in single chromosome.WFS1 mutations in each patient with WFS.
Shigetaka Sugihara (628357), Katsuya Tanabe (86942), Masaru Akiyama (338518), Yukari Kora (628352), Yasuhiko Wada (628355), Yoshitomo Oka (548202), Shin Amemiya (628356), Hiroshi Inoue (32292), Kimie Matsunaga (628349), Shigeru Okuya (628350), Yukio Tanizawa (352650), Yuichiro Yamada (628354), Yasuharu Ohta (628351), Akihiko Taguchi (363459), Yuzo Nakao (628358), Naoko Okayama (628353)   +15 more
core   +1 more source

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

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population

Frontiers in Pediatrics
Context Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA), and deafness.
I. Halabi, Y. Tenenbaum-Rakover, L. Sagi-Dain, Ilana Koren   +3 more
semanticscholar   +1 more source

Dopamine D2 receptors in WFS1-neurons regulate food-seeking and avoidance behaviors.

Progress in Neuro-psychopharmacology and Biological Psychiatry, 2023
The selection and optimization of appropriate adaptive responses depends on interoceptive and exteroceptive stimuli as well as on the animal's ability to switch from one behavioral strategy to another. Although growing evidence indicate that dopamine D2R-
Laia Castell, Valentine Le Gall, Laura Cutando, Chloé P Petit, E. Puighermanal, Leila Makrini-Malville, Ha-Rang Kim, D. Jercog, P. Tarot, A. Tassou, Anne-Gabrielle Harrus, M. Rubinstein, Régis Nouvian, Cyril Rivat, Antoine Besnard, P. Trifilieff, G. Gangarossa, P. Janak, Cyril Herry, E. Valjent   +19 more
semanticscholar   +1 more source