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Page 1
Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia.
Smith SA, Sturm AC, Curran J, Kline CF, Little SC, Bonilla IM, Long VP, Makara M, Polina I, Hughes LD, Webb TR, Wei Z, Wright P, Voigt N, Bhakta D, Spoonamore KG, Zhang C, Weiss R, Binkley PF, Janssen PM, Kilic A, Higgins RS, Sun M, Ma J, Dobrev D, Zhang M, Carnes CA, Vatta M, Rasband MN, Hund TJ, Mohler PJ. Smith SA, et al. Among authors: mohler pj. Circulation. 2015 Feb 24;131(8):695-708. doi: 10.1161/CIRCULATIONAHA.114.013708. Epub 2015 Jan 28. Circulation. 2015. PMID: 25632041 Free PMC article.
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Mohler PJ, et al. Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22. Circulation. 2007. PMID: 17242276
Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function.
Lehnart SE, Ackerman MJ, Benson DW Jr, Brugada R, Clancy CE, Donahue JK, George AL Jr, Grant AO, Groft SC, January CT, Lathrop DA, Lederer WJ, Makielski JC, Mohler PJ, Moss A, Nerbonne JM, Olson TM, Przywara DA, Towbin JA, Wang LH, Marks AR. Lehnart SE, et al. Among authors: mohler pj. Circulation. 2007 Nov 13;116(20):2325-45. doi: 10.1161/CIRCULATIONAHA.107.711689. Circulation. 2007. PMID: 17998470
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