Connexin 26 Expression in Mammalian Cardiomyocytes. [PDF]
Sci Rep, 2018 AbstractConnexins are a family of membrane-spanning proteins named according to their molecular weight. They are known to form membrane channels mediating cell-cell communication, which play an essential role in the propagation of electrical activity in the heart.
Moscato S +10 more
europepmc +4 more sources
The p.Cys169Tyr variant of connexin 26 is not a polymorphism. [PDF]
Hum Mol Genet, 2015 Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe hearing loss in two Qatari families.
Zonta F +9 more
europepmc +6 more sources
Fully human antibody specifically inhibiting Connexin 26
, 2017 (EN)Disclosed is a fully human antibody specifically inhibiting a connexin 26. The antibody is a recombinant immunoglobulin having the structure of scFv-Fc. scFv refers to a single-chain antibody comprising a heavy chain variable region and a light chain
QU ZHIHU +3 more
openaire +6 more sources
Hearing Loss and Connexin 26 [PDF]
Journal of the Royal Society of Medicine, 2002 Item does not contain ...
Kemperman, M.H. +2 more
openaire +3 more sources
Connexin Expression in Human Minor Salivary Glands: An Immunohistochemical Microscopy Study
Molecules, 2022 Connexins (Cxs) are transmembrane proteins involved in the formation of hemichannels and gap junctions (GJs). GJs are involved in various physiological functions, including secretion in glandular tissue. It has been demonstrated that Cx26, Cx32, and Cx43
Alessandra Falleni +11 more
doaj +1 more source
Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. [PDF]
PLoS ONE, 2014 Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community.
Christina G S Palmer +3 more
doaj +1 more source
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30 [PDF]
European Journal of Human Genetics, 2010 Hearing impairment is the most common sensory disorder worldwide. In a recent study, the authors have shown that a heterozygous missense mutation, p.R184Q, in the connexin 26 (Cx26) is causally related to hearing loss. However, the functional change in the Cx26R184Q mutant remains unknown. This study compared the intracellular distribution and assembly
Ching-Chyuan, Su +4 more
openaire +2 more sources
Etiology of early hearing loss in Brazilian children
Brazilian Journal of Otorhinolaryngology, 2022 Introduction: Hearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region.
Marina Faistauer +6 more
doaj +1 more source
Experimental and Molecular Medicine, 2020 Hearing loss: Disruption at the junction A decrease in the levels of connexin proteins at the junctions connecting cells in the inner-ear precedes age-related hearing loss (ARHL) in mice.
Shori Tajima +3 more
doaj +1 more source
CO2 directly modulates connexin 26 by formation of carbamate bridges between subunits [PDF]
, 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.
Greenhalgh, S.A. +18 more
core +1 more source