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Full-Text Articles in Genetic Phenomena
The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham
The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham
Loma Linda University Electronic Theses, Dissertations & Projects
Background. Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart.
Methods. Connexin43 DNA from 25 normal subjects and 30 children with a variety of congenital heart diseases was amplified by the polymerase chain reaction and sequenced. Mutant DNA was expressed in cell culture and examined for its effect …