Results 151 to 160 of about 4,249 (178)
Molecular Genetics Applied to Clinical Practice: The Cx26 Hearing Impairment
International Journal of Audiology, 1999 Mutations in the Cx26/GJB2 gene account for a large proportion of pre-lingual hearing impairment with a prevalence up to 50% in autosomal recessive cases and a still undefined prevalence in sporadic cases.
Eva Orzan
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Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26 [PDF]
Molecular and Cellular Neurosciences, 2011 Mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26), cause either non-syndromic hearing loss or syndromes affecting both hearing and skin. We have investigated whether dominant Cx26 mutants can interact physically with wild type Cx26.
Stephen W Scherer, Sabrina Yum
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Journal of Membrane Biology, 2007
In this study, we chose a differentiation-competent rat epidermal keratinocyte (REK) cell line to examine the role of Cx26 and disease-linked Cx26 mutants in organotypic epidermal differentiation. First, we generated stable REK cell lines expressing three skin disease-linked mutants (G59A, D66H and R75W).
Qing Shao, Dale W Laird, Tamsin Thomas
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In this study, we chose a differentiation-competent rat epidermal keratinocyte (REK) cell line to examine the role of Cx26 and disease-linked Cx26 mutants in organotypic epidermal differentiation. First, we generated stable REK cell lines expressing three skin disease-linked mutants (G59A, D66H and R75W).
Qing Shao, Dale W Laird, Tamsin Thomas
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Cx26 Affects the in Vitro Reconstruction of Human Epidermis
Cell Communication and Adhesion, 2001To study the function of connexins in human keratinocytes, we have used a three-dimensional culture system, in which a tissue is reconstructed using cells from the outer root sheet of hair follicles. This tissue reproduces in vitro the histological organisation of human epidermis in situ and the normal distribution of several keratinocyte markers ...
D Salomon, Denis Salomon, P Meda
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Magnesium interactions with a CX26 connexon in lipid bilayers
Journal of Molecular Modeling, 2019Following our previous work, where we described the interaction of calcium with the Cx26 hemichannel, we further explore the same system by atomistic molecular dynamics simulations considering a different di-cation, magnesium. Specifically, the interaction of magnesium di-cation with the previously reported calcium binding sites (ASP2, ASP117, ASP159 ...
Monica Pickholz +2 more
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Transport and Function of Cx26 Mutants Involved in Skin and Deafness Disorders
Cell Communication and Adhesion, 2003We examined the subcellular localization and function of several Cx26 mutants that exhibit both sensorineural deafness and various skin disease phenotypes. To facilitate these aims, all Cx26 mutants were tagged at the carboxyl-terminal with green fluorescent protein (GFP), which has previously been shown not to affect Cx26 transport, assembly or ...
Dale W Laird, Trond Aasen, Tamsin Thomas
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Biochemical Journal, 2016
Gap junction (GJ) channels mediate direct intercellular communication and are composed of two docked hemichannels (connexin oligomers). It is well documented that the docking and formation of GJs are possible only between compatible hemichannels (or connexins). The mechanisms of heterotypic docking compatibility are not fully clear.
Levent B, Karademir +4 more
openaire +2 more sources
Gap junction (GJ) channels mediate direct intercellular communication and are composed of two docked hemichannels (connexin oligomers). It is well documented that the docking and formation of GJs are possible only between compatible hemichannels (or connexins). The mechanisms of heterotypic docking compatibility are not fully clear.
Levent B, Karademir +4 more
openaire +2 more sources
Functional analysis of human Cx26 mutations associated with deafness
Brain Research Reviews, 2000Mutations in the connexin26 (Cx26) gene are not only a major cause of nonsyndromic deafness, but can also cause syndromic forms of hearing loss that are associated with palmoplantar keratoderma (PPK, i.e., Vohwinkel's syndrome). It is not clear how two very distinct pathologies can arise from different mutations within the same connexin gene.
Thomas W. White
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Cx26 Gene Mutations in Idiopathic Progressive Hearing Loss
The Journal of Otolaryngology, 2005The present study evaluated the frequency and type of mutations throughout the entire GJB2 region in a population of 39 patients affected with sporadic progressive "idiopathic" hearing loss.A large series of patients suffering from progressive hearing loss underwent a systematic screening program to identify the etiology of the hearing loss.
RAVECCA, FRANCESCA +8 more
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Cell Communication and Adhesion, 2003
Cx26 and cx30 co-localize in tissues of the mammalian cochlea. Transfected HeLa cells were used to examine interactions between cx26 and cx30 and the effects on cx30 of four point mutations in cx26 that are associated with dominantly inherited hearing loss--W44S, G59A, D66H and R75W.
Andrew Forge +2 more
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Cx26 and cx30 co-localize in tissues of the mammalian cochlea. Transfected HeLa cells were used to examine interactions between cx26 and cx30 and the effects on cx30 of four point mutations in cx26 that are associated with dominantly inherited hearing loss--W44S, G59A, D66H and R75W.
Andrew Forge +2 more
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