Article
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
European journal of human genetics : EJHG - 1 Jan 2013
Guida Valentina, Ferese Rosangela, Rocchetti Marcella, Bonetti Monica, Sarkozy Anna, Cecchetti Serena, Gelmetti Vania, Lepri Francesca, Copetti Massimiliano, Lamorte Giuseppe, Cristina Digilio Maria, Marino Bruno, Zaza Antonio, den Hertog Jeroen, Dallapiccola Bruno, De Luca Alessandro
Abstract excerpt
GJA5 gene (MIM no. 121013), localized at 1q21.1, encodes for the cardiac gap junction protein connexin 40. In humans, copy number variants of chromosome 1q21.1 have been associated with variable phenotypes comprising congenital heart disease (CHD), including isolated TOF. In mice, the deletion of Gja5 can cause a variety of complex CHDs, in particular of the cardiac outflow tract, corresponding to TOF in many...
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