Autor: |
Postma, Alex V., van De Meerakker, Judith B.A., Mathijssen, Inge B., Barnett, Phil, Christoffels, Vincent M., Ilgun, Aho, Lam, Jan, Wilde, Arthur A. M., Lekanne Deprez, Ronald H., Moorman, Antoon F. M. |
Předmět: |
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Zdroj: |
Circulation Research; 6/6/2008, Vol. 102 Issue 11, p1433-1442, 10p, 1 Chart, 7 Graphs |
Abstrakt: |
The article discusses a study which examines the association of a gain-of-function T-box transcription factor 5 (TBX5) mutation with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.The TBX5 mutation results in normal Nkx2-interaction and is correctly targeted to the nucleus. The mutation also has significantly enhanced DNA binding and activation of both the Nppa(Anf) and Cx40 promoter. |
Databáze: |
Supplemental Index |
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