Results 51 to 60 of about 1,850 (127)

Astrocytic TCF7L2 Impacts Brain Osmoregulation and Restricts Neuronal Excitability

Glia, Volume 74, Issue 2, February 2026.
Astrocytic TCF7L2 impacts extracellular glutamate and glutamine levels. Loss of astrocytic TCF7L2 disrupts extracellular potassium clearance. TCF7L2‐dependent astrocytic changes reduce neuronal excitability. ABSTRACT Astrocytes differentiate and mature during postnatal development, but the molecular mechanisms linking their maturation to neuronal ...
Mariusz Popek, Krzysztof Goryca, Dorota Adamska, Joanna Urban‐Ciećko, Katarzyna Hryniewiecka, Marcin Lipiec, Tomasz Grzegorz Krawczyk, Kamil Rafalko, Alicja Ławicka, Shane A. Liddelow, Lukasz Mateusz Szewczyk   +10 more
wiley   +1 more source

Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss [PDF]

Journal of Sciences, Islamic Republic of Iran, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
M.R. Noori-Daloii
doaj  

Spatial analysis of HPV‐associated cervical intraepithelial neoplastic tissues demonstrate distinct immune signatures associated with cervical cancer progression

The Journal of Pathology, Volume 268, Issue 2, Page 200-214, February 2026.
Abstract Cervical cancer remains the fourth most common cancer affecting women worldwide, and incidences of other HPV‐related cancers continue to rise. For the development of effective prevention strategies in high‐risk patients, we aimed to better understand the roles of inflammatory pathways and the tumour microenvironment as the main driver of ...
Gianna Pavilion, Hani Vu, Zherui Xiong, Thi Viet Trinh Dang, Blake O'Brien, Michael Walsh, Andrew Causer, Janin Chandra, Quan Nguyen, Ian H Frazer   +9 more
wiley   +1 more source

Distinct Roles of IL‐4, IL‐13, and IL‐22 in Human Skin Barrier Dysfunction and Atopic Dermatitis

Allergy, Volume 81, Issue 2, Page 480-497, February 2026.
This study reports the distinct effects of IL‐4, IL‐13, and IL‐22 on bio‐stabilized human skin with intact barriers and immune cells. IL‐4, IL‐13, and IL‐22 upregulate inflammatory mediators, disrupt skin barrier integrity, and reciprocally modulate IL‐4Rα and IL‐22Rα1 receptors.
Paolo D'Avino, Juno Kim, Manru Li, Philipp Gessner, Patrick Westermann, Yagız Pat, Carina Beha, Claudia Traidl‐Hoffmann, Jeremy Bost, Nicolas Gaudenzio, Christoph B. Messner, Cezmi A. Akdis, Yasutaka Mitamura   +12 more
wiley   +1 more source

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Clinical Case Reports, 2018
Key Clinical Message Here, we report a novel deletion (copy number variation: CNV) in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact.
Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami   +5 more
doaj   +1 more source

GJB6-D13S1830 and GJB6-D13S1854 Deletions in Patients with non-Syndromic Prelingual Deafness

Revista Finlay
Foundation: GJB6-D13S1830 and GJB6-D13S1854 deletions are pathogenic variants of the GJB6 gene, which has been shown to be the second cause of autosomal recessive non-syndromic deafness in Spain, where some of our ancestors come from.
Mercedes Arceo Álvarez, Estela Morales Peralta, Yuledmi Perdomo Chacón, Teresa Collazo Mesa   +3 more
doaj  

Genetics of non Syndromic Hearing Loss in the Republic of Macedonia

Balkan Journal of Medical Genetics, 2012
Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life.
Sukarova Stefanovska Emilija, Plaseska Karanfilska D, Cakar M, Filipce I   +3 more
doaj   +1 more source

Estudio genético de hipoacusia en familias de Argentina

Revista de la Facultad de Ciencias Médicas de Córdoba, 2004
Los últimos avances en genética molecular como así también el desarrollo de estrategias para la prevención y control de las hipoacusias no sindrómicas (HNS), han contribuido al esclarecimiento de las causas hereditarias ele las mismas.
Raúl Reynoso, Silvia Hendl, María Berteik, Curet Carlos, Luis Nicemboin, José Moreno Barral, Montserrat Rodriguez Ballesteros, Ignacio Del Castillo, Felipe Moreno   +8 more
doaj   +1 more source

Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics

Journal of Rehabilitation, 2007
Objective: Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding.
Kimia Kahrizi, Niloufar Bazzaz-Zadegan, Marzieh Mohseni, Noushin Nik-Zaat, Khadijeh Jalalvand, Yaser Riaz-el Hosseini, Yousef Shafeghati, Sanaz Arzhangi, Khalil Javan, Hosein Najmabadi   +9 more
doaj  

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families

Frontiers in Genetics
IntroductionHearing loss is a frequent sensory impairment type in humans, with about 50% of prelingual cases being attributed to genetic factors. Autosomal recessive hearing loss (ARHL) exhibits great locus heterogeneity and is responsible for 70%–80% of
Larissa Nascimento Antunes, Alex Marcel Moreira Dias, Beatriz Cetalle Schiavo, Beatriz C. A. Mendes, Debora Romeo Bertola, Debora Romeo Bertola, Karina Lezirovitz, Regina Célia Mingroni-Netto   +7 more
doaj   +1 more source