Results 71 to 80 of about 5,313 (208)

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

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, Hajime Sano, Hidekane Yoshimura, Norio Yamamoto, Shunsuke Kondo, M. Hasegawa, Tomo Nishi, Tadashi Kitahara, S. Usami   +15 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

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

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

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1 [PDF]

Scientific Reports, 2015
AbstractWolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder that has an autosomal recessive pattern of inheritance. The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protein.
Xuli Qian, Luyang Qin, Guangqian Xing, Xin Cao   +3 more
openaire   +2 more sources

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