Results 51 to 60 of about 8,250 (205)

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

Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2

Stem Cell Research, 2021
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Among them, the G45E/Y136X mutation in GJB2 is the third most prevalent in Japan.
Ichiro Fukunaga, Yoko Oe, Keiko Danzaki, Sayaka Ohta, Cheng Chen, Madoka Iizumi, Takahiro Shiga, Rina Matsuoka, Takashi Anzai, Remi Hibiya-Motegi, Shori Tajima, Katsuhisa Ikeda, Wado Akamatsu, Kazusaku Kamiya   +13 more
doaj   +1 more source

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

International 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, Tim Reichling, Holly A. Rovito, Jodie Reed, Xingtao Wei, John M. Snowball, Tom Cambron, Tomohiro Hakozaki   +7 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Analysis of GJB2 splicing products.

, 2013
Splicing products from transcription of GJB2 were amplified in a fluorescent RT-PCR assay performed with total RNA extracted from saliva samples and were separated by capillary electrophoresis.
Manuela Calderón (455419), Gema Garrido (455417), Francisco J. Rodríguez-Álvarez (455416), Marta Gandía (455414), Francisco J. del Castillo (455415), Miguel A. Moreno-Pelayo (455420), Ignacio del Castillo (455422), Felipe Moreno (455421), Manuela Villamar (455418)   +8 more
core   +1 more source

The Prevalence of GJB2 Mutation (35delG) in Patients With Non-syndromic Hearing Loss From Northern Iranian Population [PDF]

Caspian Journal of Neurological Sciences
Background: Biallelic mutations in GJB2 are responsible for over half of all autosomal recessive non-syndromic hearing loss (ARNSHL) cases, establishing it as the most critical locus for this disorder globally.
Shadman Nemati, Alireza Sharafshah, Ali Albonaim, Masoumeh Khani, Ali Faghih Habibi, Samin Abed, Parvaneh Keshavarz   +6 more
doaj  

PARP inhibitor rescues hearing and hair cell impairment in Cx26‐null mice

View, 2023
GJB2 (encoding connexin26, Cx26) mutation is the most common genetic cause of hereditary deafness. Cochlear sensory hair cell (HC) death is the core pathologic phenomenon of GJB2‐related deafness. However, mechanism‐based therapy is still obscure.
Xiaohui Wang, Sen Chen, Yue Qiu, Kai Xu, Xue Bai, Le Xie, Weijia Kong, Yu Sun   +7 more
doaj   +1 more source

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

Clinical 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

Prevalence of the GJB2 Mutations in Deafness Patients of Different Ethnic Origins in Xinjiang [PDF]

, 2007
ObjectiveTo investigate GJB2 mutation prevalences in the Uigur and Han ethnic groups in Xinjiang, China, and determine the relationship between ethnicity and GJB2 gene mutations.MethodsInformation regarding ethnicity of patients’ families was obtained ...
Xin, Liu, Qing-wen, Zhu, Guo-jian, Wang, Pu, Dai, Jin, Zhang, De-liang, Huang, Dong-yi, Han, Qi, Li   +7 more
core   +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

Journal 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, Marzieh Naseri, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari, Leila Shams, Azim Nejatizadeh   +7 more
doaj   +1 more source