[HTML][HTML] The role of connexins in ear and skin physiology—functional insights from disease-associated mutations
J Xu, BJ Nicholson - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2013 - Elsevier
Defects in several different connexins have been associated with several different diseases.
The most common of these is deafness, where a few mutations in connexin (Cx) 26 have …
The most common of these is deafness, where a few mutations in connexin (Cx) 26 have …
[HTML][HTML] Connexin disorders of the ear, skin, and lens
DA Gerido, TW White - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2004 - Elsevier
Gap junctions provide coupled cells with a direct pathway for sharing ions, nutrients, and
small metabolites, thus helping to maintain homeostasis in various tissues. Abnormal …
small metabolites, thus helping to maintain homeostasis in various tissues. Abnormal …
Connexin-26 mutations in deafness and skin disease
JR Lee, TW White - Expert reviews in molecular medicine, 2009 - cambridge.org
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 …
through intercellular channels formed by connexin proteins, which can also form functional …
Connexin gene pathology
G Richard - Clinical and experimental dermatology, 2003 - academic.oup.com
Gap junctions are formed by a polygenic family of more than 20 different connexin proteins
and mediate the direct exchange of ions, metabolites and secondary messengers between …
and mediate the direct exchange of ions, metabolites and secondary messengers between …
Connexinopathies: a structural and functional glimpse
Mutations in human connexin (Cx) genes have been related to diseases, which we termed
connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness …
connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness …
Gap junctions and connexin expression in the inner ear
A Forge, D Becker, S Casalotti… - … 219‐Gap Junction …, 2007 - Wiley Online Library
Several different recessive mutations in the connexin26 (Cx26; β2) gene have been
associated with non‐syndromic hereditary deafness. This suggests gap junctions are …
associated with non‐syndromic hereditary deafness. This suggests gap junctions are …
Functional studies of human skin disease-and deafness-associated connexin 30 mutations
JEA Common, D Becker, WL Di, IM Leigh… - Biochemical and …, 2002 - Elsevier
Connexin 30 (Cx30) is a component of the gap junction complex. Dominant and recessive
mutations in the GJB6 gene encoding Cx30 are associated with a variety of human inherited …
mutations in the GJB6 gene encoding Cx30 are associated with a variety of human inherited …
Gap junctions and cochlear homeostasis
HB Zhao, T Kikuchi, A Ngezahayo, TW White - The Journal of membrane …, 2006 - Springer
Gap junctions play a critical role in hearing and mutations in connexin genes cause a high
incidence of human deafness. Pathogenesis mainly occurs in the cochlea, where gap …
incidence of human deafness. Pathogenesis mainly occurs in the cochlea, where gap …
[HTML][HTML] Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness
R Bruzzone, V Veronesi, D Gomes, M Bicego, N Duval… - FEBS letters, 2003 - Elsevier
Connexins are the protein subunits of gap junction channels that allow a direct signaling
pathway between networks of cells. The specific role of connexin channels in the …
pathway between networks of cells. The specific role of connexin channels in the …
Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss
Connexin26 (Cx26) is a gap junction protein that oligomerizes in the cell to form hexameric
transmembrane channels called connexons. Cell surface connexons dock between …
transmembrane channels called connexons. Cell surface connexons dock between …