title: [Gap functions and diseases].
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.
authors.affiliation: Faculté de biologie et médecine, Département de médecine interne, Laboratoire de biologie moléculaire CHUV, 1011 Lausanne.
authors.forename: Florent
authors.initials: F
authors.lastname: Allagnat
authors.forename: Nathalie
authors.initials: N
authors.lastname: Krattinger
authors.forename: Pascal
authors.initials: P
authors.lastname: Nicod
authors.forename: Paolo
authors.initials: P
authors.lastname: Meda
authors.forename: Jacques-Antoine
authors.initials: JA
authors.lastname: Haefliger
mesh_terms: D017630:Connexins / Q000502:physiology*; D004194:Disease / Q000209:etiology*; D017629:Gap Junctions / Q000502:physiology*; D006801:Humans
chemical_list: D017630:Connexins