Results 161 to 170 of about 4,249 (178)

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness [PDF]

American Journal of Physiology - Cell Physiology, 2007
Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various forms of hereditary deafness and skin disease. While it has proven difficult to discern the exact pathological mechanisms that cause these disorders, studies have shown that the loss or abnormal function of Cx26 protein has a profound effect on tissue homeostasis. Here,
Thomas W. White, Gabriele Richard, Adam M Derosa   +2 more
exaly   +3 more sources

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Genotyping for Cx26 and Cx30 Mutations in Cases with Congenital Hearing Loss

Genetic Testing, 2008
Hearing loss is the most frequent sensory defect in human being. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. The 35delG, 167delT, and 235delC mutations in the Cx26 gene are the main cause for sporadic nonsyndromic hearing loss (NSHL) in many populations.
Neslihan, Evirgen, Mustafa, Solak, Sefa, Dereköy, Müjgan, Erdoğan, Handan, Yildiz, Betül, Eser, Suna, Arikan, Arzu, Erkoç   +7 more
openaire   +2 more sources

Cx32 but Not Cx26 Is Associated with Tight Junctions in Primary Cultures of Rat Hepatocytes

Experimental Cell Research, 2001
On freeze-fracture replicas, gap junctions are frequently colocalized with tight junctions. In this study, to elucidate the relationship between gap- and tight-junction proteins, we investigated the localization of gap-junction proteins Cx32 and Cx26 and tight-junction proteins occludin, claudin-1, ZO-1, and ZO-2 in primary cultured rat hepatocytes ...
T, Kojima, Y, Kokai, H, Chiba, M, Yamamoto, Y, Mochizuki, N, Sawada   +5 more
openaire   +2 more sources

Guidelines and recommendations for testing of Cx26 mutations and interpretation of results

International Journal of Pediatric Otorhinolaryngology, 2004
MAZZOLI M, NEWTON V, MURGIA A, BITNER GLINDZICZ M, GASPARINI, PAOLO, READ A, PARVING A.   +6 more
openaire   +4 more sources

[Expressions of Cx26, Cx32 and Cx43 in prostate cancer and their implications].

Zhonghua nan ke xue = National journal of andrology, 2015
To investigate the expressions of Cx26, Cx32 and Cx43 in prostate cancer (PCa) and benign prostatic hyperplasia (BPH) and their roles in the development and progression of PCa in order to provide some novel evidence for the diagnosis and treatment of PCa.We determined the expressions of Cx26, Cx32 and Cx43 in the paraffin samples from 31 cases of PCa ...
Li-Ping, Hu, Zhen-Xiang, Liu, Zhi-Ming, Bai, Shun, Tan   +3 more
openaire   +1 more source

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

Biomolecules, 2023
Valeriia Danilchenko, Konstantin Orishchenko, Marina Zytsar   +2 more
exaly  

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Genes, 2023
Vera Pshennikova, Alexander Bondar, Igor Morozov   +2 more
exaly  

A deafness mechanism of digenic Cx26 () and Cx30 () mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall

Neurobiology of Disease, 2017
Chun Liang, Hong-Bo Zhao, Jin Chen
exaly  

Cx26

2008
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Cx26

2011
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