Results 101 to 110 of about 4,249 (178)

Frequencies of Mutations in the Connexin 26 Gene (GJB2) in Two Populations of Iran (Tehran and Tabriz) [PDF]

Iranian Journal of Public Health, 2005
While hearing loss has been considered to be a very heterogeneous disorder, mutations in Gap junction beta 2 (GJB2) gene encoding Connexin 26 (Cx26) protein are the major cause of autosomal recessive and sporadic non-syndromic deafness in many ...
M Hashemzadeh Chaleshtori, L Hoghooghi Rad, M Dolati, R Sasanfar, A Hoseinipour, M Montazer Zohour, H Pourjafari, A Tolooi, M Ghadami, DD Farhud, MA Patton   +10 more
doaj   +1 more source

Investigating the Function of Cx26-I30n and D50y Mutations in Squamous Cell Carcinoma Cell Line Scc-25

, 2021
Oluklu bağlantılar çok hücreli canlılarda, hücre homeostazından sorumludur ve hücre-hücre ve hücre-ECM iletişimini sağlar. Oluklu bağlantı yarıkanalları, insan fizyolojisi için çok önemli olan işlevleri olan connexin (Cx) proteinlerinden oluşur.
Yavuz, Büşra
core  

Neonatal CX26 removal impairs neocortical development and leads to elevated anxiety

, 2017
Significance It has long been postulated that the formation of electrically coupled neuronal domains guides the emergence of chemically transmitting neuronal connections in the developing neocortex.
Xin Su, Li-Zhao Zhang, Wenlian Lu, Jing-Jing Chen, Shan Sun, Huawei Li, Qian Huang, Yong-Chun Yu, Xiang-Nan He, Lin-Yun Liu, Xiao-Yang Li   +10 more
core   +1 more source

Cx26 heterozygous mutations: role in hyperacusis and vulnerability to noise

Signal Transduction and Targeted Therapy, 2023
Karen Tawk, Mehdi Abouzari
openaire   +3 more sources

Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment

, 2008
CONCLUSION: Biallelic Cx26 mutations are the most common cause of autosomal recessive nonsyndromic hearing impairment (ARNHI) in Switzerland. Mutations in Cx30 and 31, digenic mutations as well as large deletions/duplications, are unlikely to be a major ...
Bösch, Nemya, Gürtler, Nicolas, Egenter, Carole, Plasilova, Martina   +3 more
core   +1 more source

Original Communication - Study of families of nonsyndromic hearing impairment segregating with mutations in Cx26 gene

, 2004
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most common form with profound hereditary hearing impairment linked to DFNB1 locus (connexin26 gene) at 13q12.
T. Padma, K. Dwarakanath, P. V. Ramchander, V. U. Nandur, S. Vishnupriya   +4 more
core   +2 more sources

Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran [PDF]

Iranian Journal of Public Health, 2006
Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26) gene located on “DFNB1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (ARNSHL) in some populations.
M Hashemzadeh Chaleshtori, M Montazer Zohour, L Hoghooghi Rad, H Pour-Jafari, DD Farhud, M Dolati, K Safa Chaleshtori, R Sasanfar, A Hosseinipour, L Andonian, A Tolouei, M Ghadami, MA Patton   +12 more
doaj  

Drowning out communication. Focus on “The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity”

American Journal of Physiology-Cell Physiology, 2013
gap junctions provide a pathway for intercellular communication primarily by directly interconnecting the cytoplasm of adjacent cells (3). This pathway consists of arrays of channels, composed of proteins known as connexins. Connexin channels create a direct conduit enabling diffusion of cytoplasmic molecules, ions, and water between cells.
openaire   +3 more sources

Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO2

eLife
Connexins allow intercellular communication by forming gap junction channels (GJCs) between juxtaposed cells. Connexin26 (Cx26) can be regulated directly by CO2. This is proposed to be mediated through carbamylation of K125. We show that mutating K125 to
Deborah H Brotherton, Sarbjit Nijjar, Christos G Savva, Nicholas Dale, Alexander David Cameron   +4 more
doaj   +1 more source

木犀草素增强Cx32/Cx26组成的细胞缝隙连接功能

Zhongshan Daxue xuebao. Yixue kexue ban, 2011
【目的】 体外观察木犀草素对转染并稳定表达缝隙连接蛋白32/ 26(Cx32/Cx26)的Hela细胞缝隙连接通讯功能(GJIC)和Cx26蛋白表达水平的影响【方法】 用SRB法检测不同浓度木犀草素对Hela细胞的毒性;用细胞接种荧光示踪法观察不同浓度木犀草素对GJIC的影响;用western blotting 研究木犀草素在影响GJIC功能浓度范围内对Cx26表达的影响【结果】 木犀草素在0 ~ 1 μmol/L浓度时对Hela细胞无毒性作用;木犀草素(0.01 ~ 1 μmol/L ...
doaj