Results 61 to 70 of about 5,521 (170)
"Two Novel Mutations and Predominant 35delG Mutation in the Connexin 26 Gene (GJB2) in Iranian Populations" [PDF]
Iranian Journal of Public Health, 2004 Mutations in the GJB2 gene encoding Connexin 26 (Cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations.
"M Hashemzadeh Chaleshtori +10 more
doaj +1 more source
Clinical and Translational Discovery, Volume 6, Issue 4, August 2026.A pan‐cancer transcriptional signature based on histone tyrosine sulfation (HYsulf) reveals associations with immune infiltration, metabolic reprogramming and patient prognosis, thereby enabling the development of predictive nomograms for PCPG and UVM.
Meijuan Cai +7 more
wiley +1 more source
The role of gene GJB2 and connexin 26 in hearing impairment [PDF]
The Ukrainian Biochemical Journal, 2018 Gap Junction Beta 2 (GJB2) gene mutations are the leading causes of hereditary hearing impairment. This gene encodes various gap junction proteins such as connexin 26 (Cx26), which facilitate K+ homeostasis inside the cochlea in the inner ear. It is as well identified in non-syndromic deafness, which is not accompanied with other abnormalities in the ...
openaire +3 more sources
Integrated Clinical Trial and Molecular Profiling Reveals Immune Drivers of Chronic Hand Eczema
Allergy, Volume 81, Issue 8, Page 2815-2832, August 2026.This study performed an unbiased molecular profiling of CHE patients across diverse etiologies to identify shared pathogenic drivers and evaluate the impact of IL‐4Rα blockade via dupilumab over 16 weeks. CHE shows a mixed immune signature involving type 1, 2, and 3 pathways with features of atopic dermatitis and psoriasis.
Perrine Gery +25 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana +7 more
wiley +1 more source
The Journal of Qazvin University of Medical Sciences, 2016 Hearing loss is one of the most common sensorineural disorders that occur in 1:1000. Mutation in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 is the most important cause of congenital hearing loss.
H. Onsori
doaj
Scientific Reports, 2023 Stromal fibrosis in cancer is usually associated with poor prognosis and chemotherapy resistance. It is thought to be caused by fibroblasts; however, the exact mechanism is not yet well understood.
Seong Ju Cho +10 more
doaj +1 more source
iMetaOmics, Volume 3, Issue 2, June 2026.Integrating multiplexed immunofluorescence, animal models, and clinical samples, our single‐cell and spatial atlas maps tumor microenvironment evolution during bladder cancer (BCa) progression. We reveal that stemness‐associated tumor cells (SDC1+), POSTN+ myofibroblastic cancer‐associated fibroblasts (mCAFs), and immunosuppressive monocytic myeloid ...
Ting Liang +13 more
wiley +1 more source
Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models
Pediatric Discovery, Volume 4, Issue 2, June 2026.ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou +3 more
wiley +1 more source
Progress On Sensorineural Hearing Loss: Mechanisms and Therapies
Sensory Neuroscience, Volume 2, Issue 2, June 2026.ABSTRACT Hearing loss is the most common disabling disease among humans, which adversely affects human health. Sensorineural hearing loss (SNHL) accounting for approximately 63% of all hearing loss cases. SNHL may be classified into age‐related hearing loss (ARHL), drug‐induced hearing loss (DIHL), noise‐induced hearing loss (NIHL), and sudden ...
Yuan Zhang +9 more
wiley +1 more source