Article
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.
Human molecular genetics - 15 Feb 2008
Dobrowolski Radoslaw, Sasse Philipp, Schrickel Jan W, Watkins Marcus, Kim Jung-Sun, Rackauskas Mindaugas, Troatz Clemens, Ghanem Alexander, Tiemann Klaus, Degen Joachim, Bukauskas Feliksas F, Civitelli Roberto, Lewalter Thorsten, Fleischmann Bernd K, Willecke Klaus
Abstract excerpt
Oculodentodigital dysplasia (ODDD) is a dominant negatively inherited disorder with variable but characteristic anomalies of the fingers and toes, eyes, face and teeth, which are caused by mutations in the connexin 43 (Cx43) gene. All mutations analyzed so far have a negative influence on the conductance through gap junctional channels and hemichannels, as well as trafficking of Cx43 protein in transfected cells....
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