Results 51 to 60 of about 5,521 (170)

Pretreatment of keratinocytes with Galactomyces ferment filtrate (GFF) promotes stress resiliency in an in vitro oxidative stress model

open access: yesInternational Journal of Cosmetic Science, EarlyView.
GFF pretreatment enhances keratinocyte protection against oxidative stress by mitigating stress‐induced biomolecular changes and gene expression dysregulation. GFF‐pretreated keratinocytes maintain healthy epidermal biology post‐stress, preserving mitochondrial function and proliferative capacity.
Lisa C. Green   +7 more
wiley   +1 more source

Gene therapy for hereditary deafness: Progress, challenges and translational implications from OTOF to GJB2

open access: yesClinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Current Management & Limitations: Traditional auditory devices lack genetic curative potential and yield variable, non‐physiological hearing outcomes. OTOF gene therapy has shown promising clinical outcomes with dual‐AAV therapy. GJB2 gene therapy remains an emerging approach with significant translational challenges. Advances in vector design and cell‐
Jiahui Zhao, Mengzhao Xun, Yu Sun
wiley   +1 more source

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran

open access: yesJournal of Research in Medical Sciences, 2017
Background: We aimed to determine the contribution of four DFNB loci and mutation analysis of gap junction beta-2 (GJB2) and GJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL) in South of Iran. Materials and Methods: A total of 36 large
Masoud Akbarzadeh Laleh   +7 more
doaj   +1 more source

Unveiling the Diagnostic Value and Potential Therapeutic Targets of Phenylalanine Metabolism in Pancreatic Cancer via Integrated Multi‐Omics and Machine Learning

open access: yesThe FASEB Journal, Volume 40, Issue 18, 30 September 2026.
MR identified phenylalanine as a causal PC risk factor (OR 1.18). A 5‐gene RF model (AUC 0.955) highlighted SLC6A14 as the top biomarker. Single‐cell analysis revealed epithelial–immune crosstalk. Molecular docking identified genistein (−9.1 kcal/mol) as a lead SLC6A14‐targeting compound.
Xing Liu   +3 more
wiley   +1 more source

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients [PDF]

open access: yesInternational Journal of Pediatric Otorhinolaryngology, 2008
Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing loss in a number of populations. However, little is known about the genetic causes of hearing loss in the Korean population.We sequenced the GJB2 and GJB6 genes to examine the role of mutations in these genes in 22 hearing loss patients.
K Y, Lee   +7 more
openaire   +2 more sources

Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss

open access: yesTherapeutics and Clinical Risk Management, 2016
Maryam Balali,1,2 Behnam Kamalidehghan,3 Mohammad Farhadi,2 Fatemeh Ahmadipour,4 Mahmoud Dehghani Ashkezari,1 Mohsen Rezaei Hemami,2 Hossein Arabzadeh,2 Masoumeh Falah,2 Goh Yong Meng,5 Massoud Houshmand3 1Department of Biology, Islamic Azad University,
Balali M   +10 more
doaj  

Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochlea

open access: yesNature Communications
Mutations in the GJB2 gene cause DFNB1, the most common hereditary hearing loss. GJB2 is expressed by cochlear epithelial cells and fibrocytes, but not by sensory hair cells or neurons.
Maryna V. Ivanchenko   +13 more
doaj   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

open access: yesAdvanced Science, Volume 13, Issue 53, 24 September 2026.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya   +10 more
wiley   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

open access: yesJournal of Clinical Laboratory Analysis, Volume 40, Issue 18, September 2026.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei   +4 more
wiley   +1 more source

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
In a Han Chinese hearing‐loss cohort from Southwest China, a tiered strategy combining targeted hotspot screening and whole‐exome sequencing established molecular diagnoses in 25 patients, including one involving a CDH23 truncating variant not previously reported in Han Chinese patients with hearing loss, and identified a candidate SLC12A2 variant ...
Yu Zhang   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy