Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/jamadermatol.2018.5368 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.
JAMA Dermatol
April 2019
Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
Cochlear connexin 30 homomeric and heteromeric channels exhibit distinct assembly mechanisms.
Mech Dev
February 2019
GIGA-Neurosciences, Unit of Cell and Tissue Biology, University of Liège, C.H.U. B36, B-4000 Liège, Belgium.
Many of the mutations in GJB2 and GJB6, which encode connexins 26 and 30 (Cx26 and Cx30), impair the formation of membrane channels and cause autosomal syndromic and non-syndromic hearing loss. In cochlear non-sensory supporting cells, Cx26 and Cx30 form two types of homomeric and heteromeric gap junctions. The biogenesis processes of these channels occurring in situ remain largely unknown.
View Article and Find Full Text PDFAberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.
J Invest Dermatol
April 2015
Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New York, USA. Electronic address:
Article Synopsis
- KID syndrome is an ectodermal dysplasia linked to mutations in connexin26, causing traits such as keratitis, icthyosis, and deafness, while Cx26 mutations lead to sensorineural deafness without affecting the skin.
- The majority of KID mutations enhance hemichannel activity in Cx26, which can disrupt skin cell integrity and contribute to skin issues like hyperkeratosis.
- Research shows that the drug mefloquine effectively reduces abnormal hemichannel activity linked to KID syndrome mutations, providing a potential therapeutic avenue for managing the condition.
Connexin-26 mutations in deafness and skin disease.
Expert Rev Mol Med
November 2009
Department of Physiology and Biophysics, Stony Brook University Medical Center, Stony Brook, New York 11794-8661, USA.
Gap junctions allow the exchange of ions and small molecules between adjacent cells through intercellular channels formed by connexin proteins, which can also form functional hemichannels in nonjunctional membranes. Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!