Molecular and Physiological Bases of the K+ Circulation in the Mammalian Inner Ear

H Hibino, Y Kurachi - Physiology, 2006 - journals.physiology.org
Endolymph, the extracellular solution in cochlea, contains 150 mM K+ and exhibits a
potential of approximately+ 80 mV relative to neighboring extracellular spaces. This unique …

Connexins and gap junctions in the inner ear – it's not just about K+ recycling

DJ Jagger, A Forge - Cell and tissue research, 2015 - Springer
Normal development, function and repair of the sensory epithelia in the inner ear are all
dependent on gap junctional intercellular communication. Mutations in the connexin genes …

[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 …

[HTML][HTML] Genetic diseases of junctions

JE Lai-Cheong, K Arita, JA McGrath - Journal of Investigative Dermatology, 2007 - Elsevier
Tight junctions, gap junctions, adherens junctions, and desmosomes represent intricate
structural intercellular channels and bridges that are present in several tissues, including …

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 …

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

EM Richard, RLP Santos‐Cortez, R Faridi… - Human …, 2019 - Wiley Online Library
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …

Frequencies of gap‐and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss

O Uyguner, M Emiroglu, A Uzumcu, G Hafiz… - Clinical …, 2003 - Wiley Online Library
Mutations in genes encoding gap‐and tight‐junction proteins have been shown to cause
distinct forms of hearing loss. We have now determined the GJB2 [connexin 26 (Cx26)] …

Connexin-caused genetic diseases and corresponding mouse models

R Dobrowolski, K Willecke - Antioxidants & redox signaling, 2009 - liebertpub.com
The human and mouse genomes contain 21 and 20 connexin genes, respectively. During
the last 10-year period, genetic research on connexins has been stimulated by two parallel …

A homozygous GJA1 gene mutation causes a Hallermann‐Streiff/ODDD spectrum phenotype

A Pizzuti, E Flex, R Mingarelli, C Salpietro… - Human …, 2004 - Wiley Online Library
Oculodentodigital dysplasia (ODDD) and Hallermann‐Streiff syndrome (HSS) share several
clinical characteristics. However, while ODDD is a dominantly inherited disorder due to …

[HTML][HTML] Connexins in epidermal homeostasis and skin disease

CA Scott, D Tattersall, EA O'Toole, DP Kelsell - Biochimica et Biophysica …, 2012 - Elsevier
The expression of multiple connexin (Cx) types in the epidermis, their differential expression
during wound closure and the association of skin pathology with specific Cx gene mutations …