Results 81 to 90 of about 8,250 (205)

GJB2 mutations, GJB6 mutations and their relevance for childhood deafness

, 2008
Einleitung: Zumindest 50% aller konnatalen Schwerhörigkeiten sind genetisch bedingt. Mutationen im GJB -Gen werden am häufigsten gefunden, sie liegen bei 20 bis 30% aller Patienten mit nicht syndromalen Schwerhörigkeiten vor. Wir stellten uns die Frage,
Zechner, U, Bartsch, O, Keilmann, A, Vatter, A, Baumgart, A, Haaf, T   +5 more
core  

GJB2 mutations: Passage through Iran [PDF]

, 2005
Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding.
Bazazzadegan, N., Arzhangi, S., Mahdieh, N., Farhadi, M., Malekpour, M., Smith, R.J.H., Kahrizi, K., Avenarius, M., Daneshi, A., Mohseni, M., Nishimura, C., Najmabadi, H., Riazalhosseini, Y., Naghavi, A., Ebrahimi, A.   +14 more
core  

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

Therapeutics 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, Kamalidehghan B, Farhadi M, Ahmadipour F, Ashkezari MD, Hemami MR, Arabzadeh H, Falah M, Meng GY, Houshm, M   +10 more
doaj  

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, Shen Li, Yangfan Zhou, Duopin Li, Junru Ding, Ruifeng Qiao, Yutian Chen, Fanglei Ye, Le Wang, Peipei Li   +9 more
wiley   +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  

Prospective Mutation Screening of Three Common Deafness Genes in a Large Taiwanese Cohort with Idiopathic Bilateral Sensorineural Hearing Impairment Reveals a Difference in the Results between Families from Hospitals and Those from Rehabilitation Faciliti

, 2011
Accurate epidemiological data on common deafness genes are essential to improve the efficiency and to reduce the cost of molecular diagnosis. They may depend on several factors, including a clear delineation of the source of patients being studied.
WU, CHEN-CHI;CHEN, PEI-JER;CHIU, YU-HSUN;LU, YING-CHANG;HSU, CHUAN-JEN, 吳振吉;陳培哲;邱昱勳;呂盈璋;許權振   +1 more
core  

GJB2 genotypes in patients with HI.

, 2016
GJB2 genotypes in patients with HI.
Oksana G. Sidorova (2805940), Lilya U. Dzhemileva (588345), Fedor M. Teryutin (588328), Sardana K. Kononova (2805913), Aisen V. Solovyev (588330), Elza K. Khusnutdinova (258931), Georgii P. Romanov (2805916), Nyurgun N. Gotovtsev (588340), Igor V. Morozov (560419), Nikolay N. Sazonov (2805922), Anatoliy N. Alekseev (2805934), Adyum M. Rafailov (2805910), Andrey A. Kozhevnikov (2805931), Alexander A. Bondar (2615266), Sardana A. Fedorova (273256), Natalya A. Solovyevа (2805925), Nikolay A. Barashkov (588327), Lena M. Vasilyevа (2805919), Vera G. Pshennikova (588329), Olga L. Posukh (588344), Leonid A. Klarov (588331), Elena V. Kirillina (2805937), Mikhail I. Tomsky (2805928), Elvira E. Fedotova (588335)   +23 more
core   +1 more source

Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases

Balkan Journal of Medical Genetics, 2016
Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups.
Xing J, Liu X, Tian Y, Tan J, Zhao H
doaj   +1 more source

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

International Journal of Pediatric Otorhinolaryngology, 2002
Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations.
Pampanos, A., Economides, J., Iliadou, V., Neou, P., Leotsakos, P., Voyiatzis, N., Eleftheriades, N., Tsakanikos, M., Antoniadi, T., Hatzaki, A., Konstantopoulou, I., Yannoukakos, D., Gronskov, K., Brondum-Nielsen, K., Grigoriadou, M., Gyftodimou, J., Iliades, T., Skevas, A., Petersen, M. B.   +18 more
openaire   +3 more sources

DataSheet_1_The prognostic value and biological significance of gap junction beta protein 2 (GJB2 or Cx26) in cervical cancer.zip

, 2022
ObjectiveTo evaluate the prognostic value and explore the biological significance of gap junction protein beta 2 (GJB2 or Cx26) in cervical cancer (CC).MethodsWe first compared GJB2 expression between CC and normal tissues using public databases and ...
Xiaoyu Liu (206872), Yuhuan Liu (344181), Silu Meng (13045284), Lili Guo (303857), Xue Wu (317735), Xiaoyan Wang (8433), Wan Xie (5876069), Changyu Wang (115293), Xiaoyan Kang (4765941)   +8 more
core   +1 more source