PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 15942999

[Gap functions and diseases].

Florent Allagnat·Nathalie Krattinger·Pascal Nicod·Paolo Meda·Jacques-Antoine Haefliger
View original source ↗Export metadata ↓

Abstract

Gap junctions are highly conserved structures that provide cells with a direct pathway for sharing ions, nutrients and other intracellular messengers, thus participating to the homeostasis of various tissues. Research on transgenic mice has revealed a major involvement of gap junctions proteins (connexins) in several cellular functions. At the same time, an increasing number of mutations of connexin genes has been linked to several hereditary diseases, including peripheral neuropathies, skin diseases, genetic deafness, cataracts and some forms of epilepsy. This review summarizes the state of knowledge about the implication of connexins in human pathologies.

Explore related subjects

ConnexinsDiseaseGap JunctionsHumansEnglish AbstractJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.Review

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Florent Allagnat, Nathalie Krattinger, Pascal Nicod, Paolo Meda, Jacques-Antoine Haefliger. 2005-04-27. [Gap functions and diseases].. https://pubmed.ncbi.nlm.nih.gov/15942999/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2005

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.

The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively. Gap junctions composed of Cx proteins are intracellular channels providing a mechanism of synchronized cellular response facilitating metabolic and electronic functions of the cell. In the skin, Cx31 and Cx30.3 are expressed in the stratum granulosum of the epidermis with a suggested role in late keratinocyte differentiation. Molecular investigations of GJB3 and GJB4 were performed in five pedigrees and three sporadic cases of EKV. Mutational analyzes revealed disease-associated Cx31 or Cx30.3 mutations in only three probands of which two were novel mutations and one was a recurrent mutation. These genetic studies further demonstrate the heterogeneous nature of the erythrokeratodermas as not all individuals that were clinically diagnosed with EKV harbor Cx31 or Cx30.3 mutations.

Connexins↗