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Mutations in cardiovascular connexin genes

Published in Biology of the Cell. 2014, vol. 106, no. 9, p. 269-293
Abstract Connexins (Cxs) form a family of transmembrane proteins comprising 21 members in humans. Cxs differ in their expression patterns, biophysical properties and ability to combine into homomeric or heteromeric gap junction channels between neighboring cells. The permeation of ions and small metabolites through gap junction channels or hemichannels confers a crucial role to these proteins in intercellular communication and in maintaining tissue homeostasis. Among others, Cx37, Cx40, Cx43, Cx45 and Cx47 are found in heart, blood- and lymphatic vessels. Mutations or polymorphisms in the genes coding for these Cxs have not only been implicated in cardiovascular pathologies but also in a variety of other disorders. While mutations in Cx43 are mostly linked to oculodentodigital dysplasia, Cx47 mutations are associated with Pelizaeus-Merzbacher-like disease and lymphedema. Cx40 mutations are principally linked to atrial fibrillation. Mutations in Cx37 have not yet been described, but polymorphisms in the Cx37 gene have been implicated in the development of arterial disease. This review addresses current knowledge on gene mutations in cardiovascular Cxs systematically and links them to alterations in channel properties and disease. This article is protected by copyright. All rights reserved.
PMID: 24966059
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MOLICA, Filippo et al. Mutations in cardiovascular connexin genes. In: Biology of the Cell, 2014, vol. 106, n° 9, p. 269-293. doi: 10.1111/boc.201400038 https://archive-ouverte.unige.ch/unige:38572

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Deposited on : 2014-07-09

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