17 results for author:"Splawski I." in Literature citations
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| TRPM1 forms ion channels associated with melanin content in melanocytes. Oancea E., Vriens J., Brauchi S., Jun J., Splawski I., Clapham D.E. |
| CACNA1H mutations in autism spectrum disorders. Splawski I., Yoo D.S., Stotz S.C., Cherry A., Clapham D.E., Keating M.T. J. Biol. Chem. 281:22085-22091(2006) · Mapped (8) |
| Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Splawski I., Timothy K.W., Decher N., Kumar P., Sachse F.B., Beggs A.H., Sanguinetti M.C., Keating M.T. Proc. Natl. Acad. Sci. U.S.A. 102:8089-8096(2005) · UniProtKB (1) · Mapped (20) |
| Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Ackerman M.J., Splawski I., Makielski J.C., Tester D.J., Will M.L., Timothy K.W., Keating M.T., Jones G., Chadha M., Burrow C.R. et al. Heart Rhythm 1:600-607(2004) · Mapped (14) |
| Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Splawski I., Timothy K.W., Sharpe L.M., Decher N., Kumar P., Bloise R., Napolitano C., Schwartz P.J., Joseph R.M., Condouris K. et al. |
| An intronic mutation causes long QT syndrome. Zhang L., Vincent G.M., Baralle M., Baralle F.E., Anson B.D., Benson D.W., Whiting B., Timothy K.W., Carlquist J., January C.T. et al. J. Am. Coll. Cardiol. 44:1283-1291(2004) · Mapped (14) |
| A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Mohler P.J., Splawski I., Napolitano C., Bottelli G., Sharpe L., Timothy K., Priori S.G., Keating M.T., Bennett V. Proc. Natl. Acad. Sci. U.S.A. 101:9137-9142(2004) · UniProtKB (1) · Mapped (9) |
| Compound mutations: a common cause of severe long-QT syndrome. Westenskow P., Splawski I., Timothy K.W., Keating M.T., Sanguinetti M.C. Circulation 109:1834-1841(2004) · UniProtKB (2) · Mapped (35) |
| Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Splawski I., Timothy K.W., Tateyama M., Clancy C.E., Malhotra A., Beggs A.H., Cappuccio F.P., Sagnella G.A., Kass R.S., Keating M.T. |
| Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G., Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M. et al. Circulation 102:1178-1185(2000) · UniProtKB (4) |
| MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Abbott G.W., Sesti F., Splawski I., Buck M.E., Lehmann M.H., Timothy K.W., Keating M.T., Goldstein S.A.N. |
| Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. Chen J., Zou A., Splawski I., Keating M.T., Sanguinetti M.C. J. Biol. Chem. 274:10113-10118(1999) · UniProtKB (1) |
| Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Splawski I., Shen J., Timothy K.W., Vincent G.M., Lehmann M.H., Keating M.T. Genomics 51:86-97(1998) · UniProtKB (2) |
| Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T. Nat. Genet. 17:338-340(1997) · UniProtKB (1) |
| Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M., Vanraay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T. et al. Nat. Genet. 12:17-23(1996) · UniProtKB (1) |
| SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L., Moss A.J., Towbin J.A., Keating M.T. |
| A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., Keating M.T. |