Results 71 to 80 of about 5,521 (170)

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  

Ligand‐specific tuning of CLEC10A signalling strength and dendritic cell responses through engagement of different GalNAc‐containing glycan structures

The FEBS Journal, Volume 293, Issue 11, Page 3187-3210, June 2026.
The authors investigated the effects of various glycan ligands for CLEC10A, a lectin receptor expressed on dendritic cells (DCs). Monocyte‐derived DCs were stimulated with glycan‐conjugated dendrimers in combination with the TLR1/2 ligand Pam3CysK4, and responses were investigated at the mRNA and protein level.
Nadia L. van der Meijs, Remi Hatinguais, Mike de Kok, R. J. Eveline Li, Tesfay M. Godefa, Victor L. J. L. Thijssen, Yvette van Kooyk, Sandra J. van Vliet   +7 more
wiley   +1 more source

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

Audiology & neuro-otology, 2010
Fil: Diamante, Fernando. Centro de Implantes Cocleares "Prof. Dr.
Dalamon, Viviana Karina, Lotersztein, Vanesa, Béhèran, Agustina, Lipovsek, Maria Marcela, Diamante, Fernando, Pallares, Norma, Francipane, Liliana, Frechtel, Gustavo Daniel, Paoli, Bibiana, Mansilla, Enrique, Diamante, Vicente, Elgoyhen, Ana Belen   +11 more
openaire   +2 more sources

Estudo de mutações no gene GJB2 e deleção delGJB6-D13S1830 em indivíduos com surdez não sindrômica da região Amazônica A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region

Brazilian Journal of Otorhinolaryngology, 2013
A deficiência auditiva afeta cerca de 1 em cada 1000 recém-nascidos. Mutações no gene da conexina 26 (GJB2) são as causas mais frequentes de surdez não sindrômica em diferentes populações e é sabido que a mutação delGJB6-D13S1830 em DFNB30 é causadora de
Luciana Santos Serrão de Castro, Anderson Nonato do Rosario Marinho, Elzemar Martins Ribeiro Rodrigues, Giorgio Christie Tavares Marques, Tarcísio André Amorim de Carvalho, Luiz Carlos Santana da Silva, Sidney Emanuel Batista dos Santos   +6 more
doaj  

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Journal of Translational Medicine, 2009
Background Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.
Tang Liang, Zhang Jin, Xu Xuehai, Hou Nongsheng, Cui Jinghong, You Yiwen, Zhu Xiuhui, Deng Wei, Liu Lijia, Lin Hongyan, Yu Youjun, Ye Qing, Wang Youqin, He Yong, He Jia, Hao Jinsheng, Yao Kun, Yuan Huijun, Zhang Xin, Kang Dongyang, Huang Deliang, Liu Xin, Yuan Yongyi, Li Qi, Wang Guojian, Liu Xuezhong, Han Bing, Yu Fei, Dai Pu, Song Rendong, Lin Yongjun, Sun Shuanzhu, Zhang Ruining, Wu Hao, Ma Yuebing, Zhu Shanxiang, Wu Bai-lin, Han Dongyi, Wong Lee-Jun C   +38 more
doaj   +1 more source

Review Studies of GJB2 Gene in Patients with Hearing Impairment in Pakistan

Journal of Molecular and Genetic Medicine, 2017
Deafness is inherited as one of the most frequent type of neurosensory disorder. The specific physiologic mechanisms of the different types of hearing loss are still unknown. Recent studies have listed numerous causative agents for hearing loss. Genetic factors contribute to a greater extent in hearing disability. GJB2 gene is one of the most promising
Farooqi N, Khan O, Ellaham S, Jalil SF
openaire   +1 more source

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong. [PDF]

Mol Genet Genomic Med, 2023
Liang S, Li W, Chen Z, Yuan S, Wang Z.
europepmc   +1 more source

Conservation of polymorphism in GJB2 gene markers in Iranian population by balancing selection

تاکسونومی و بیوسیستماتیک, 2013
GJB2 gene encodes connexin 26 which is an important skin-expressed gap junction protein. Connexin 26 is a transmembrane protein that is involved in the potassium ion recycling pathway in the inner ear.
Halimeh Rezaei, Zahra Fazeli Attar, Marjan Mojtabavi Naeini, Sadeq Vallian Boroujeni   +3 more
doaj  

Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up. [PDF]

Int J Mol Sci, 2023
Sakata A, Kashio A, Koyama M, Urata S, Koyama H, Yamasoba T.   +5 more
europepmc   +1 more source

Children with GJB2 gene mutations have various audiological phenotypes.

Bioscience trends, 2018
The current study retrospectively investigated variations in audiological phenotypes in children with GJB2 gene mutations. Subjects were 128 infants and young children who were seen as outpatients by Otology at Beijing Tongren Hospital from 2012 to 2018.
Wang, Xianlei, Huang, Lihui, Zhao, Xuelei, Wang, Xueyao, Cheng, Xiaohua, Du, Yating, Liu, Dongxin   +6 more
openaire   +2 more sources