| 1 | CACNA1C, TMTS
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| A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates.
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| Hennessey JA, Jiang Y, Miller JD, Stadt HA, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt GS.
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| Heart Rhythm 10(11):1745. doi: 10.1016/j.hrthm.2013.09.026. Epub 2013 Oct 24.
2013
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| 2 | CACNA1C, TMTS
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| Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein.
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| Cheng EP, Yuan C, Navedo MF, Dixon RE, Nieves-Cintrón M, Scott JD, Santana LF.
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| Circ Res 109(3):255-61. doi: 10.1161/CIRCRESAHA.111.248252. Epub 2011 Jun 23.
2011
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| 3 | CACNA1C, TMTS
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| Calmodulin kinase II is involved in voltage-dependent facilitation of the L-type Cav1.2 calcium channel: Identification of the phosphorylation sites.
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| Lee TS, Karl R, Moosmang S, Lenhardt P, Klugbauer N, Hofmann F, Kleppisch T, Welling A.
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| J Biol Chem 281(35):25560-7. Epub 2006 Jul 4. 2006
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| 4 | CACNA1C, TMTS
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| Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
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| Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT.
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| Proc Natl Acad Sci U S A 102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29. 2005
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| 5 | TMTS, CACNA1C
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| Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
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| Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT.
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| Cell 119(1):19-31. 2004
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| 6 | TMTS
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| Long QT syndrome associated with syndactyly identified in females.
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| Marks ML, Trippel DL, Keating MT.
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| Am J Cardiol 76(10):744-5. 1995
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