Results 31 to 40 of about 1,391 (157)

The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69

Revista Brasileira em Promoção da Saúde, 2012
Aim: To identify the occurrence of 35delG mutation and of environmental factors related to hearing loss in patients with cochlear implant, determining the functional gain post-implant. Methods: It was a cross-sectional study conducted with six volunteers,
Camila Nogueira Lélis, Marília Fontenele e Silva Câmara, Edi Lúcia Sartorato   +2 more
doaj   +1 more source

Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile

Biological Research, 2013
Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive
Lucía Cifuentes, Margarita Arancibia, Mariela Torrente, Mónica Acuña, Corina Farfán, Carolina Ríos   +5 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Analysis of hearing thresholds in patients with hearing impairments associated with mutations of the GJB2 gene (Sh26) in Buryatia

Якутский медицинский журнал
In this work, the hearing analysis of 26 patients with hearing impairment, who had biallelic mutations of the GJB2 gene (Sh26) was carried out in the Republic of Buryatia.
F. M. Teryutin, V. G. Pshennikova, G. P. Romanov, A. V. Solovyov, L. A. Klarov, N. A. Lebedeva, N. A. Barashkov   +6 more
doaj   +1 more source

Advances in the Treatment of Sensorineural Hearing Loss: From Traditional Therapies to Stem Cell and Gene Therapies

Advanced Sensor Research, Volume 5, Issue 4, April 2026.
Sensorineural hearing loss (SNHL) occurs in 1.5 billion globally, primary driven by damage of cochlear hair cells and spiral ganglion neurons. This review systematically examines current therapeutic strategies for sensorineural hearing loss, including traditional drug and physical therapies as well as emerging stem cell and gene therapies, providing a ...
Ruirui Chen, Yang Zhang, Zhe Li, Renjie Chai   +3 more
wiley   +1 more source

Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development

Advanced Science, Volume 13, Issue 14, 9 March 2026.
Connexin26 can not only form intercellular channels that mediate rapid communication on the cell membrane, but also enter the nucleus as a transcription factor to directly regulate the transcription of nuclear genes. In the developing cochlea, Cx26 can control the maturation of the molecular scissor ADAM10 by regulating the transcription of TspanC8 ...
Xiaozhou Liu, Le Xie, Yuan Jin, Sen Chen, Xinyu Shi, Yanjun Zong, Zhengdong Zhao, Wei‐Jia Kong, Yu Sun   +8 more
wiley   +1 more source

Audiometric evaluation of carriers of the connexin 26 mutation 35delG

, 2005
Mutation in a gap junction protein gene (GJB2 also named connexin 26) is a major cause of autosomal recessive congenital deafness, which is responsible for about 80% of the cases in Mediterranean families, but actually little is known about the influence
MARCIANO, ELIO, D'Aulos F, Carella M, FRANZE', Annamaria, SAULINO, CLAUDIO, Esposito L, Caravelli A, DI LEVA, FRANCESCA, Gasparini P., AULETTA, GENNARO   +9 more
core   +1 more source

Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population [PDF]

Journal of Kerman University of Medical Sciences, 2004
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive ...
N Bazazzadegan, N Mirhoseini, H Ziaaddini, AR Asadi, K Kahrizi, S Arzhangi, A Astani, M Mohseni, Y Riazalhosseini, M Nejat, Kh Jalalvand, RJH Smith, C Nishimura, H Najmabadi   +13 more
doaj  

Study of Frequency and Spectrum of GJB2 Gene Mutations in Non-Syndromic Hearing Loss Patients of Semnan Province [PDF]

Armaghane Danesh Bimonthly Journal, 2023
Background & aim: Deafness (HL) is the most common sensorineural disorder. The frequency of hearing impairment in the world is one in every 500 newborns.
F Parvini, S Noavar, H Fahimi
doaj  

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang, Wenjing Bai, Xiaohe Cai, Sheng Huang, Jiangzhong Zeng, Xiaoting Liang, Xutao Hong   +6 more
wiley   +1 more source