Biomolecules, 2023 One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26).
Olga L. Posukh +4 more
doaj +4 more sources
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]
Royal Society Open Science, 2019 The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Jonathan Cook +2 more
doaj +6 more sources
CO2 directly modulates connexin 26 by formation of carbamate bridges between subunits [PDF]
eLife, 2013 Homeostatic regulation of the partial pressure of CO2 (PCO2) is vital for life. Sensing of pH has been proposed as a sufficient proxy for determination of PCO2 and direct CO2-sensing largely discounted.
Louise Meigh +5 more
doaj +9 more sources
Exploring the binding sites of VRT534 at Cx26 as a putative chemical chaperone for targeted treatment of hereditary hearing disorders [PDF]
Frontiers in MedicineHearing loss is the most common sensory disorder, significantly affecting the quality of life for millions of people worldwide. Chemical chaperones are emerging as a potential therapeutic option for hereditary forms of deafness associated with protein ...
Jennifer Harre +5 more
doaj +4 more sources
Pifu-xingbing zhenliaoxue zazhi, 2023 Objective To investigate the effect of G12R mutation in Cx26 on the expression of TLR2 and its downstream inflammatory factors in human keratinocytes.
Zhaoying LIU, Yankun LU, Han MA
doaj +2 more sources
Tumor Promotion in Liver of Mice with a Conditional Cx26 Knockout [PDF]
Toxicological Sciences, 2008 Connexin (Cx) 26 and 32 are the major gap junction proteins in liver. We recently demonstrated that Cx32 is essential for phenobarbital (PB)-mediated tumor promotion in mouse liver.
Templin, M. F. +7 more
core +3 more sources
Cx26 deafness: mutation analysis and clinical variability
Journal of Medical Genetics, 1999 Mutations in the gap junction protein connexin 26 (Cx26) gene (GJB2) seem to account for many cases of congenital sensorineural hearing impairment, the reported prevalence being 34-50% in autosomal recessive cases and 10-37% in sporadic cases.
MURGIA, ALESSANDRA +7 more
core +4 more sources
Cx26 regulates proliferation of repairing basal airway epithelial cells
The International Journal of Biochemistry & Cell Biology, 2014 International audienceThe recovery of an intact epithelium following injury is critical for restoration of lung homeostasis, a process that may be altered in cystic fibrosis (CF).
Tantilipikorn, P. +24 more
core +7 more sources
Hypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2) Deficiency [PDF]
Frontiers in Molecular Neuroscience, 2017 K+-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2) mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss.
Hong-Bo Zhao
doaj +2 more sources
Mammary gland specific knockdown of the physiological surge in Cx26 during lactation retains normal mammary gland development and function. [PDF]
PLoS ONE, 2014 Connexin26 (Cx26) is the major Cx protein expressed in the human mammary gland and is up-regulated during pregnancy while remaining elevated throughout lactation.
Michael K G Stewart +4 more
doaj +3 more sources