Article
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 27 Feb 2001
Casimiro M C, Knollmann B C, Ebert S N, Vary J C, Greene A E, Franz M R, Grinberg A, Huang S P, Pfeifer K
Abstract excerpt
KCNQ1 encodes KCNQ1, which belongs to a family of voltage-dependent K(+) ion channel proteins. KCNQ1 associates with a regulatory subunit, KCNE1, to produce the cardiac repolarizing current, I(Ks). Loss-of-function mutations in the human KCNQ1 gene have been linked to Jervell and Lange-Nielsen Syndrome (JLNS), a disorder characterized by profound bilateral deafness and a cardiac phenotype. To generate a mouse...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.