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SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
Musa H, Kline CF, Sturm AC, Murphy N, Adelman S, Wang C, Yan H, Johnson BL, Csepe TA, Kilic A, Higgins RS, Janssen PM, Fedorov VV, Weiss R, Salazar C, Hund TJ, Pitt GS, Mohler PJ. Musa H, et al. Among authors: mohler pj. Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12528-33. doi: 10.1073/pnas.1516430112. Epub 2015 Sep 21. Proc Natl Acad Sci U S A. 2015. PMID: 26392562 Free PMC article.
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. Mohler PJ, et al. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. doi: 10.1073/pnas.0402546101. Epub 2004 Jun 3. Proc Natl Acad Sci U S A. 2004. PMID: 15178757 Free PMC article.
Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.
Le Scouarnec S, Bhasin N, Vieyres C, Hund TJ, Cunha SR, Koval O, Marionneau C, Chen B, Wu Y, Demolombe S, Song LS, Le Marec H, Probst V, Schott JJ, Anderson ME, Mohler PJ. Le Scouarnec S, et al. Among authors: mohler pj. Proc Natl Acad Sci U S A. 2008 Oct 7;105(40):15617-22. doi: 10.1073/pnas.0805500105. Epub 2008 Oct 1. Proc Natl Acad Sci U S A. 2008. PMID: 18832177 Free PMC article.
270 results