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Items: 1 to 50 of 338

1.

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.

Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL Jr, Rognum TO.

Forensic Sci Med Pathol. 2018 Jun 8. doi: 10.1007/s12024-018-9989-3. [Epub ahead of print]

PMID:
29881912
2.

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.

Baker EM, Thompson CH, Hawkins NA, Wagnon JL, Wengert ER, Patel MK, George AL Jr, Meisler MH, Kearney JA.

Epilepsia. 2018 Jun;59(6):1166-1176. doi: 10.1111/epi.14196. Epub 2018 May 21.

PMID:
29782051
3.

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ.

Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23. Review.

PMID:
29691040
4.

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel.

Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL Jr, Chazin WJ.

Structure. 2018 May 1;26(5):683-694.e3. doi: 10.1016/j.str.2018.03.005. Epub 2018 Apr 5.

PMID:
29606593
5.

SCN1A variants associated with sudden infant death syndrome.

Brownstein CA, Goldstein RD, Thompson CH, Haynes RL, Giles E, Sheidley B, Bainbridge M, Haas EA, Mena OJ, Lucas J, Schaber B, Holm IA, George AL, Kinney HC, Poduri AH.

Epilepsia. 2018 Apr;59(4):e56-e62. doi: 10.1111/epi.14055. Epub 2018 Mar 30.

PMID:
29601086
6.

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr.

Neurobiol Dis. 2018 Jul;115:29-38. doi: 10.1016/j.nbd.2018.03.009. Epub 2018 Mar 19.

PMID:
29567111
7.

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Huang H, Kuenze G, Smith JA, Taylor KC, Duran AM, Hadziselimovic A, Meiler J, Vanoye CG, George AL Jr, Sanders CR.

Sci Adv. 2018 Mar 7;4(3):eaar2631. doi: 10.1126/sciadv.aar2631. eCollection 2018 Mar.

8.

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

Chai S, Wan X, Ramirez-Navarro A, Tesar PJ, Kaufman ES, Ficker E, George AL Jr, Deschênes I.

J Clin Invest. 2018 Mar 1;128(3):1043-1056. doi: 10.1172/JCI94996. Epub 2018 Feb 12.

9.

Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.

Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George AL Jr, Mushiroda T, Klein T, Gammal RS, Pirmohamed M.

Clin Pharmacol Ther. 2018 Apr;103(4):574-581. doi: 10.1002/cpt.1004. Epub 2018 Feb 2.

PMID:
29392710
10.

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy.

Calhoun JD, Vanoye CG, Kok F, George AL Jr, Kearney JA.

Neurol Genet. 2017 Dec 11;3(6):e198. doi: 10.1212/NXG.0000000000000198. eCollection 2017 Dec.

11.

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Li B, Mendenhall JL, Kroncke BM, Taylor KC, Huang H, Smith DK, Vanoye CG, Blume JD, George AL Jr, Sanders CR, Meiler J.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001754. doi: 10.1161/CIRCGENETICS.117.001754.

PMID:
29021305
12.

Comparative evaluation of the efficacy of lignocaine containing topical anesthetic agents during extraction of deciduous anterior teeth.

Sarpangala M, Devasya A, George AL, Kumara A, Panicker P, Mathew M.

Minerva Stomatol. 2018 Feb;67(1):26-31. doi: 10.23736/S0026-4970.17.04052-3. Epub 2017 Oct 9.

PMID:
29017289
13.

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N.

Genome Biol. 2017 Sep 14;18(1):170. doi: 10.1186/s13059-017-1286-z.

14.

Treatment of calmodulinopathy with verapamil.

Webster G, Schoppen ZJ, George AL Jr.

BMJ Case Rep. 2017 Aug 7;2017. pii: bcr-2017-220568. doi: 10.1136/bcr-2017-220568.

PMID:
28784889
15.

Allelic Complexity in Long QT Syndrome: A Family-Case Study.

Zullo A, Frisso G, Detta N, Sarubbi B, Romeo E, Cordella A, Vanoye CG, Calabrò R, George AL, Salvatore F.

Int J Mol Sci. 2017 Jul 27;18(8). pii: E1633. doi: 10.3390/ijms18081633.

16.

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Huang J, Vanoye CG, Cutts A, Goldberg YP, Dib-Hajj SD, Cohen CJ, Waxman SG, George AL Jr.

J Clin Invest. 2017 Jun 30;127(7):2805-2814. doi: 10.1172/JCI92373. Epub 2017 May 22.

17.

Screening of conventional anticonvulsants in a genetic mouse model of epilepsy.

Hawkins NA, Anderson LL, Gertler TS, Laux L, George AL Jr, Kearney JA.

Ann Clin Transl Neurol. 2017 Apr 26;4(5):326-339. doi: 10.1002/acn3.413. eCollection 2017 May.

18.

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.

Anderson LL, Hawkins NA, Thompson CH, Kearney JA, George AL Jr.

Sci Rep. 2017 May 10;7(1):1682. doi: 10.1038/s41598-017-01851-9.

19.

In vivo reprogramming of non-mammary cells to an epithelial cell fate is independent of amphiregulin signaling.

George AL, Boulanger CA, Anderson LH, Cagnet S, Brisken C, Smith GH.

J Cell Sci. 2017 Jun 15;130(12):2018-2025. doi: 10.1242/jcs.200030. Epub 2017 Apr 28.

20.

Azithromycin Causes a Novel Proarrhythmic Syndrome.

Yang Z, Prinsen JK, Bersell KR, Shen W, Yermalitskaya L, Sidorova T, Luis PB, Hall L, Zhang W, Du L, Milne G, Tucker P, George AL Jr, Campbell CM, Pickett RA, Shaffer CM, Chopra N, Yang T, Knollmann BC, Roden DM, Murray KT.

Circ Arrhythm Electrophysiol. 2017 Apr;10(4). pii: e003560. doi: 10.1161/CIRCEP.115.003560.

21.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

22.

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Rocchetti M, Sala L, Dreizehnter L, Crotti L, Sinnecker D, Mura M, Pane LS, Altomare C, Torre E, Mostacciuolo G, Severi S, Porta A, De Ferrari GM, George AL Jr, Schwartz PJ, Gnecchi M, Moretti A, Zaza A.

Cardiovasc Res. 2017 Apr 1;113(5):531-541. doi: 10.1093/cvr/cvx006.

PMID:
28158429
23.

CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice.

Thompson CH, Hawkins NA, Kearney JA, George AL Jr.

Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):1696-1701. doi: 10.1073/pnas.1615774114. Epub 2017 Jan 30.

24.

Mammary extracellular matrix directs differentiation of testicular and embryonic stem cells to form functional mammary glands in vivo.

Bruno RD, Fleming JM, George AL, Boulanger CA, Schedin P, Smith GH.

Sci Rep. 2017 Jan 10;7:40196. doi: 10.1038/srep40196.

25.

Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Kroncke BM, Van Horn WD, Smith J, Kang C, Welch RC, Song Y, Nannemann DP, Taylor KC, Sisco NJ, George AL Jr, Meiler J, Vanoye CG, Sanders CR.

Sci Adv. 2016 Sep 9;2(9):e1501228. doi: 10.1126/sciadv.1501228. eCollection 2016 Sep.

26.

Measuring Drug Metabolism Kinetics and Drug-Drug Interactions Using Self-Assembled Monolayers for Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry.

Anderson LL, Berns EJ, Bugga P, George AL Jr, Mrksich M.

Anal Chem. 2016 Sep 6;88(17):8604-9. doi: 10.1021/acs.analchem.6b01750. Epub 2016 Aug 12.

PMID:
27467208
27.

Mammary Epithelial Cell Lineage Analysis via the Lyon's Hypothesis.

George AL, Smith GH.

Int J Stem Cell Res Ther. 2016;3(1). pii: 018. Epub 2016 Jan 3.

28.

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Pipilas DC, Johnson CN, Webster G, Schlaepfer J, Fellmann F, Sekarski N, Wren LM, Ogorodnik KV, Chazin DM, Chazin WJ, Crotti L, Bhuiyan ZA, George AL Jr.

Heart Rhythm. 2016 Oct;13(10):2012-9. doi: 10.1016/j.hrthm.2016.06.038. Epub 2016 Jul 1.

29.
30.

Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.

Yu CC, Ko JS, Ai T, Tsai WC, Chen Z, Rubart M, Vatta M, Everett TH 4th, George AL Jr, Chen PS.

Heart Rhythm. 2016 Aug;13(8):1716-23. doi: 10.1016/j.hrthm.2016.05.009. Epub 2016 May 7.

31.

Use-Dependent Block of Human Cardiac Sodium Channels by GS967.

Potet F, Vanoye CG, George AL Jr.

Mol Pharmacol. 2016 Jul;90(1):52-60. doi: 10.1124/mol.116.103358. Epub 2016 May 2.

32.

Rationale and design for an investigation to optimize selective serotonin reuptake inhibitor treatment for pregnant women with depression.

Avram MJ, Stika CS, Rasmussen-Torvik LJ, Ciolino JD, Pinheiro E, George AL Jr, Wisner KL.

Clin Pharmacol Ther. 2016 Jul;100(1):31-3. doi: 10.1002/cpt.375. Epub 2016 May 9.

PMID:
27037844
33.

Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines.

Chhibber A, French CE, Yee SW, Gamazon ER, Theusch E, Qin X, Webb A, Papp AC, Wang A, Simmons CQ, Konkashbaev A, Chaudhry AS, Mitchel K, Stryke D, Ferrin TE, Weiss ST, Kroetz DL, Sadee W, Nickerson DA, Krauss RM, George AL, Schuetz EG, Medina MW, Cox NJ, Scherer SE, Giacomini KM, Brenner SE.

Pharmacogenomics J. 2017 Mar;17(2):137-145. doi: 10.1038/tpj.2015.93. Epub 2016 Feb 9.

34.

PLX4032 Mediated Melanoma Associated Antigen Potentiation in Patient Derived Primary Melanoma Cells.

George AL, Suriano R, Rajoria S, Osso MC, Tuli N, Hanly E, Geliebter J, Arnold AN, Wallack M, Tiwari RK.

J Cancer. 2015 Oct 29;6(12):1320-30. doi: 10.7150/jca.11126. eCollection 2015.

35.

Hormone signaling requirements for the conversion of non-mammary mouse cells to mammary cell fate(s) in vivo.

Boulanger CA, Rosenfield SM, George AL, Smith GH.

J Mammary Gland Biol Neoplasia. 2015 Jun;20(1-2):93-101. doi: 10.1007/s10911-015-9343-2. Epub 2015 Sep 11. Review.

36.

Misplaced brain sodium channels in heart kindle sudden death in epilepsy.

George AL Jr.

Circ Arrhythm Electrophysiol. 2015 Aug;8(4):769-71. doi: 10.1161/CIRCEP.115.003261. No abstract available.

37.

Intracellular calcium attenuates late current conducted by mutant human cardiac sodium channels.

Potet F, Beckermann TM, Kunic JD, George AL Jr.

Circ Arrhythm Electrophysiol. 2015 Aug;8(4):933-41. doi: 10.1161/CIRCEP.115.002760. Epub 2015 May 28.

38.

New approaches to establish genetic causality.

McNally EM, George AL Jr.

Trends Cardiovasc Med. 2015 Oct;25(7):646-52. doi: 10.1016/j.tcm.2015.02.013. Epub 2015 Mar 4. Review.

39.

Personalized biochemistry and biophysics.

Kroncke BM, Vanoye CG, Meiler J, George AL Jr, Sanders CR.

Biochemistry. 2015 Apr 28;54(16):2551-9. doi: 10.1021/acs.biochem.5b00189. Epub 2015 Apr 15.

40.

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

Porta A, Girardengo G, Bari V, George AL Jr, Brink PA, Goosen A, Crotti L, Schwartz PJ.

J Am Coll Cardiol. 2015 Feb 3;65(4):367-374. doi: 10.1016/j.jacc.2014.11.015.

41.

Filtering approach based on empirical mode decomposition improves the assessment of short scale complexity in long QT syndrome type 1 population.

Bari V, Marchi A, Girardengo G, George AL Jr, Brink PA, Cerutti S, Crotti L, Schwartz PJ, Porta A.

Conf Proc IEEE Eng Med Biol Soc. 2014;2014:6671-4. doi: 10.1109/EMBC.2014.6945158.

PMID:
25571526
42.

Calmodulinopathy: a genetic trilogy.

George AL Jr.

Heart Rhythm. 2015 Feb;12(2):423-4. doi: 10.1016/j.hrthm.2014.11.017. Epub 2014 Nov 18. No abstract available.

PMID:
25460856
43.

Use of contemporary genetics in cardiovascular diagnosis.

George AL Jr.

Circulation. 2014 Nov 25;130(22):1971-80. doi: 10.1161/CIRCULATIONAHA.114.006511. Review. No abstract available.

44.

Lessons learned from genetic testing for channelopathies.

George AL Jr.

Lancet Neurol. 2014 Nov;13(11):1068-1070. doi: 10.1016/S1474-4422(14)70123-1. No abstract available.

PMID:
25316008
45.

De novo KCNB1 mutations in epileptic encephalopathy.

Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA.

Ann Neurol. 2014 Oct;76(4):529-540. doi: 10.1002/ana.24263. Epub 2014 Sep 19.

46.

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

de Villiers CP, van der Merwe L, Crotti L, Goosen A, George AL Jr, Schwartz PJ, Brink PA, Moolman-Smook JC, Corfield VA.

Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2.

47.

SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.

Savio-Galimberti E, Weeke P, Muhammad R, Blair M, Ansari S, Short L, Atack TC, Kor K, Vanoye CG, Olesen MS, LuCamp, Yang T, George AL Jr, Roden DM, Darbar D.

Cardiovasc Res. 2014 Nov 1;104(2):355-63. doi: 10.1093/cvr/cvu170. Epub 2014 Jul 22.

48.

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

Yin G, Hassan F, Haroun AR, Murphy LL, Crotti L, Schwartz PJ, George AL, Satin J.

J Am Heart Assoc. 2014 Jun 23;3(3):e000996. doi: 10.1161/JAHA.114.000996.

49.

Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr.

Circ Cardiovasc Genet. 2014 Aug;7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10.

50.

Antiepileptic activity of preferential inhibitors of persistent sodium current.

Anderson LL, Thompson CH, Hawkins NA, Nath RD, Petersohn AA, Rajamani S, Bush WS, Frankel WN, Vanoye CG, Kearney JA, George AL Jr.

Epilepsia. 2014 Aug;55(8):1274-83. doi: 10.1111/epi.12657. Epub 2014 May 23.

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