1 - 25 of 91 results for author:"George A.L. Jr." in Literature citations
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| Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. Thompson C.H., Porter J.C., Kahlig K.M., Daniels M.A., George A.L. Jr. J. Biol. Chem. 287:42001-42008(2012) · Mapped (7) |
| Activation of protein kinase C alters the intracellular distribution and mobility of cardiac Na+ channels. Hallaq H., Wang D.W., Kunic J.D., George A.L. Jr., Wells K.S., Murray K.T. Am. J. Physiol. Heart Circ. Physiol. 302:H782-9(2012) · Mapped (14) |
| A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Kaab S., Crawford D.C., Sinner M.F., Behr E.R., Kannankeril P.J., Wilde A.A., Bezzina C.R., Schulze-Bahr E., Guicheney P., Bishopric N.H. et al. Circ Cardiovasc Genet 5:91-99(2012) · Mapped (7) |
| Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Murphy L.L., Moon-Grady A.J., Cuneo B.F., Wakai R.T., Yu S., Kunic J.D., Benson D.W., George A.L. Jr. Heart Rhythm 9:590-597(2012) · Mapped (14) |
| Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. Volkers L., Kahlig K.M., Verbeek N.E., Das J.H., van Kempen M.J., Stroink H., Augustijn P., van Nieuwenhuizen O., Lindhout D., George A.L. Jr. et al. Eur. J. Neurosci. 34:1268-1275(2011) · Mapped (7) |
| Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Watanabe H., Yang T., Stroud D.M., Lowe J.S., Harris L., Atack T.C., Wang D.W., Hipkens S.B., Leake B., Hall L. et al. Circulation 124:1001-1011(2011) · Mapped (20) |
| Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Jorge B.S., Campbell C.M., Miller A.R., Rutter E.D., Gurnett C.A., Vanoye C.G., George A.L. Jr., Kearney J.A. Proc. Natl. Acad. Sci. U.S.A. 108:5443-5448(2011) · Mapped (2) |
| SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study. Jeff J.M., Brown-Gentry K., Buxbaum S.G., Sarpong D.F., Taylor H.A., George A.L. Jr., Roden D.M., Crawford D.C. Circ Cardiovasc Genet 4:139-144(2011) · Mapped (14) |
| Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants. El-Bizri N., Kahlig K.M., Shyrock J.C., George A.L. Jr., Belardinelli L., Rajamani S. Channels (Austin) 5:161-172(2011) · Mapped (3) |
| KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1. Ciampa E.J., Welch R.C., Vanoye C.G., George A.L. Jr. J. Biol. Chem. 286:4141-4149(2011) · Mapped (4) |
| SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr. Killen S.A., Kunic J., Wang L., Lewis A., Levy B.P., Ackerman M.J., George A.L. Jr. BMC Med. Genet. 11:74-74(2010) · Mapped (14) |
| KCNQ1/KCNE1 assembly, co-translation not required. Vanoye C.G., Welch R.C., Tian C., Sanders C.R., George A.L. Jr. Channels (Austin) 4:108-114(2010) · Mapped (7) |
| Association of a common KCNE1 variant with heart failure. George A.L. Jr. Heart Rhythm 7:368-369(2010) · Mapped (7) |
| NOS1AP is a genetic modifier of the long-QT syndrome. Crotti L., Monti M.C., Insolia R., Peljto A., Goosen A., Brink P.A., Greenberg D.A., Schwartz P.J., George A.L. Jr. Circulation 120:1657-1663(2009) · Mapped (1) |
| Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Wang D.W., Crotti L., Shimizu W., Pedrazzini M., Cantu F., De Filippo P., Kishiki K., Miyazaki A., Ikeda T., Schwartz P.J. et al. Circ Arrhythm Electrophysiol 1:370-378(2008) · Mapped (14) |
| CLCNKB-T481S and essential hypertension in a Ghanaian population. Sile S., Velez D.R., Gillani N.B., Narsia T., Moore J.H., George A.L. Jr., Vanoye C.G., Williams S.M. J. Hypertens. 27:298-304(2009) · Mapped (3) |
| Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression. Pierno S., Camerino G.M., Cippone V., Rolland J.F., Desaphy J.F., De Luca A., Liantonio A., Bianco G., Kunic J.D., George A.L. Jr. et al. Br. J. Pharmacol. 156:1206-1215(2009) · Mapped (2) |
| A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Crotti L., Lewandowska M.A., Schwartz P.J., Insolia R., Pedrazzini M., Bussani E., Dagradi F., George A.L. Jr., Pagani F. Heart Rhythm 6:212-218(2009) · Mapped (14) |
| KCNE4 domains required for inhibition of KCNQ1. Manderfield L.J., Daniels M.A., Vanoye C.G., George A.L. Jr. J. Physiol. (Lond.) 587:303-314(2009) · Mapped (4) |
| Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome. Ballester L.Y., Vanoye C.G., George A.L. Jr. Channels (Austin) 1:209-217(2007) · Mapped (1) |
| Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. McArdle E.J., Kunic J.D., George A.L. Jr. Am. J. Med. Genet. A 146A:2421-2423(2008) · Mapped (7) |
| Divergent sodium channel defects in familial hemiplegic migraine. Kahlig K.M., Rhodes T.H., Pusch M., Freilinger T., Pereira-Monteiro J.M., Ferrari M.D., van den Maagdenberg A.M., Dichgans M., George A.L. Jr. Proc. Natl. Acad. Sci. U.S.A. 105:9799-9804(2008) · Mapped (7) |
| Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Kang C., Tian C., Soennichsen F.D., Smith J.A., Meiler J., George A.L. Jr., Vanoye C.G., Kim H.J., Sanders C.R. Biochemistry 47:7999-8006(2008) · UniProtKB (1) · Mapped (6) |
| Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Misra S.N., Kahlig K.M., George A.L. Jr. Epilepsia 49:1535-1545(2008) · Mapped (4) |
| The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. Makita N., Behr E., Shimizu W., Horie M., Sunami A., Crotti L., Schulze-Bahr E., Fukuhara S., Mochizuki N., Makiyama T. et al. J. Clin. Invest. 118:2219-2229(2008) · UniProtKB (1) · Mapped (13) |