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Alfred George

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TOP 3
Alfred L George
Lipid kinase mutations in heritable glomerular microangiopathy.
Carlos G Vanoye; Jennifer D Kunic; George R Ehring; Alfred L George
Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling.
Qingchao Qiu; Yu Shyr; Daniel Joseph Viox; Yuzhu Xiang; Xi Chen; Alfred L George; Brian David Lehmann; Pengcheng Lu; Yajun Yi
A data similarity-based strategy for meta-analysis of transcriptional profiles in cancer.

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All Publications

2013: Alfred L George
Lipid kinase mutations in heritable glomerular microangiopathy.
Journal of the American Society of Nephrology : JASN 2013;24(3):329-30.
2013: Carlos G Vanoye; Jennifer D Kunic; George R Ehring; Alfred L George
Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling.
The Journal of general physiology 2013;141(2):193-202.
2013: Qingchao Qiu; Yu Shyr; Daniel Joseph Viox; Yuzhu Xiang; Xi Chen; Alfred L George; Brian David Lehmann; Pengcheng Lu; Yajun Yi
A data similarity-based strategy for meta-analysis of transcriptional profiles in cancer.
PloS one 2013;8(1):e54979.
2012: Lia Crotti; Federica Dagradi; Alfred L George; Althea Goosen; Marshall Heradien; Maria Teresa La Rovere; Matteo Pedrazzini; Barbara Petracci; Alessandra P Porretta; Carla Spazzolini; Erika Taravelli; Emilio Vanoli; Alessandro Vicentini; Paul A Brink; Peter J Schwartz
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Journal of the American College of Cardiology 2012;60(24):2515-24.
2012: Christopher H Thompson; Melissa A Daniels; Kristopher M Kahlig; J Christopher Porter; Alfred L George
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
The Journal of biological chemistry 2012;287(50):42001-8.
2012: Franck Potet; Veniamin Y Sidorov; Svetlana Z Stepanovic; Raghav Venkataraman; C David Weaver; Beiyan Zou; L Michelle Lewis; Min Li; Craig W Lindsley; Amanda N Lorinc; David Afshartous; Jeffrey R Balser; Franz J Baudenbacher; Courtney M Campbell; Sebastien Chaigne; Emily Days; Darren W Engers; Alfred L George; Corey R Hopkins; Sabina Kupershmidt
Identification and characterization of a compound that protects cardiac tissue from human Ether-à-go-go-related gene (hERG)-related drug-induced arrhythmias.
The Journal of biological chemistry 2012;287(47):39613-25.
2012: Alfred L George
Genetic marker of torsades de pointes risk following myocardial infarction.
Heart rhythm : the official journal of the Heart Rhythm Society 2012;9(7):1113-4.
2012: Lisa L Murphy; zhimin li; Suhong Yu; D Woodrow Benson; Bettina F Cuneo; Jennifer D Kunic; Anita J Moon-Grady; Alfred L George
Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia.
Heart rhythm : the official journal of the Heart Rhythm Society 2012;9(4):590-7.
2011: Susan E Quaggin; Alfred L George
Apolipoprotein l1 and the genetic basis for racial disparity in chronic kidney disease.
Journal of the American Society of Nephrology : JASN 2011;22(11):1955-8.
2011: Linda Volkers; Paul Augustijn; Joost H G Das; Alfred L George; Kristopher M Kahlig; Bobby P C Koeleman; Dick Lindhout; Hans Stroink; Marjan J A van Kempen; Onno Van Nieuwenhuizen; Nienke E Verbeek; Martin B Rook
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
The European journal of neuroscience 2011;34(8):1268-75.
2011: Christopher H Thompson; Kristopher M Kahlig; Alfred L George
SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.
Epilepsia 2011;52(5):1000-9.
2011: Benjamin S Jorge; Courtney M Campbell; Alison R Miller; Elizabeth D Rutter; Christina A Gurnett; Carlos G Vanoye; Alfred L George; Jennifer A Kearney
Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(13):5443-8.
2011: Nesrine El-Bizri; Kristopher M Kahlig; John C Shyrock; Alfred L George; Luiz Belardinelli; Sridharan Rajamani
Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.
Channels (Austin, Tex.) 2011;5(2):161-72.
2011: Christo D Venkov; Terri Ni; David Plieth; Aihua Bian; Alfred L George; Amitava Karmaker; Eric G Neilson
Transcriptional networks in epithelial-mesenchymal transition.
PloS one 2011;6(9):e25354.
2010: Kristopher M Kahlig; Irene Lepist; Kwan Leung; Sridharan Rajamani; Alfred L George
Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.
British journal of pharmacology 2010;161(6):1414-26.
2010: Carlos G Vanoye; Richard C Welch; Changlin Tian; Charles R Sanders; Alfred L George
KCNQ1/KCNE1 assembly, co-translation not required.
Channels (Austin, Tex.) 2010;4(2):108-14.
2010: Alfred L George
Association of a common KCNE1 variant with heart failure.
Heart rhythm : the official journal of the Heart Rhythm Society 2010;7(3):368-9.
2010: Domenico Tricarico; Antonietta Mele; Giulia Maria Camerino; Roberto Bottinelli; Lorenza Brocca; Antonio Frigeri; Maria Svelto; Alfred L George; Diana Conte Camerino
The KATP channel is a molecular sensor of atrophy in skeletal muscle.
The Journal of physiology 2010;588(Pt 5):773-84.
2010: Kristopher M Kahlig; Sai K Saridey; Aparna Kaja; Melissa A Daniels; Alfred L George; Modena H Wilson
Multiplexed transposon-mediated stable gene transfer in human cells.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(4):1343-8.
2010: Dao W Wang; Jizhou Xiang; Kristopher M Kahlig; Jennifer A Kearney; Akshitkumar M Mistry; Alfred L George
Propranolol blocks cardiac and neuronal voltage-gated sodium channels.
Frontiers in pharmacology 2010;1():144.
2010: Stacy A S Killen; Jennifer Kunic; Lily Wang; Adele Lewis; Bruce P Levy; Michael J Ackerman; Alfred L George
SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr.
BMC medical genetics 2010;11():74.
2009: Alfred L George
Common genetic variants in sudden cardiac death.
Heart rhythm : the official journal of the Heart Rhythm Society 2009;6(11 Suppl):S3-9.
2009: Lia Crotti; Maria Cristina Monti; Roberto Insolia; Anna Peljto; Althea Goosen; Paul A Brink; David A Greenberg; Peter J Schwartz; Alfred L George
NOS1AP is a genetic modifier of the long-QT syndrome.
Circulation 2009;120(17):1657-63.
2009: Carlos G Vanoye; Richard C Welch; Melissa A Daniels; Lauren J Manderfield; Andrew R Tapper; Charles R Sanders; Alfred L George
Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits.
The Journal of general physiology 2009;134(3):207-17.
2009: Alfred L George
Genetic modulation of impaired cardiac conduction: sodium channel beta4 subunit missing in action.
Circulation research 2009;104(11):1238-9.
2009: Sabata Pierno; G M Camerino; Valentina Cippone; J-F Rolland; Jean-François Desaphy; Annamaria De Luca; Antonella Liantonio; G Bianco; J D Kunic; Alfred L George; Diana Conte Camerino
Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression.
British journal of pharmacology 2009;156(8):1206-15.
2009: Saba Sile; Digna R Velez; Niloufar B Gillani; Tinatin Narsia; Jason Moore; Alfred L George; Carlos G Vanoye; scott williams
CLCNKB-T481S and essential hypertension in a Ghanaian population.
Journal of hypertension 2009;27(2):298-304.
2009: Lia Crotti; Marzena A Lewandowska; Peter J Schwartz; Roberto Insolia; Matteo Pedrazzini; Erica Bussani; Federica Dagradi; Alfred L George; Franco Pagani
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.
Heart rhythm : the official journal of the Heart Rhythm Society 2009;6(2):212-8.
2009: Lauren J Manderfield; Melissa A Daniels; Carlos G Vanoye; Alfred L George
KCNE4 domains required for inhibition of KCNQ1.
The Journal of physiology 2009;587(Pt 2):303-14.
2009: Jun Wu; Qingchao Qiu; Lu Xie; Joseph Fullerton; Jian Yu; Yu Shyr; Alfred L George; Yajun Yi
Web-based interrogation of gene expression signatures using EXALT.
BMC bioinformatics 2009;10():420.
2008: Dao W Wang; Lia Crotti; Wataru Shimizu; Matteo Pedrazzini; Francesco Cantu; PAOLO DE FILIPPO; Kanako Kishiki; Aya Miyazaki; Tomoaki Ikeda; Peter J Schwartz; Alfred L George
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
Circulation. Arrhythmia and electrophysiology 2008;1(5):370-8.
2008: Erin J McArdle; Jennifer D Kunic; Alfred L George
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
American journal of medical genetics. Part A 2008;146A(18):2421-3.
2008: Sunita N Misra; Kristopher M Kahlig; Alfred L George
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
Epilepsia 2008;49(9):1535-45.
2008: Congbao Kang; Changlin Tian; Frank D Sönnichsen; Jarrod A Smith; Jens Meiler; Alfred L George; Carlos G Vanoye; Hak Jun Kim; Charles R Sanders
Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.
Biochemistry 2008;47(31):7999-8006.
2008: Kristopher M Kahlig; Thomas H Rhodes; Michael Pusch; Tobias Freilinger; José M Pereira-Monteiro; Michel D Ferrari; Arn van den Maagdenberg; Martin Dichgans; Alfred L George
Divergent sodium channel defects in familial hemiplegic migraine.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(28):9799-804.
2008: Dawood Darbar; Prince J Kannankeril; Brian S Donahue; Gayle Kucera; Tanya Stubblefield; Jonathan L Haines; Alfred L George; Dan Mark Roden
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
Circulation 2008;117(15):1927-35.
2008: Peter J Schwartz; Emilio Vanoli; Lia Crotti; Carla Spazzolini; Chiara Ferrandi; Althea Goosen; Paula Hedley; Marshall Heradien; Sara Bacchini; A Turco; Maria Teresa La Rovere; Antonella Bartoli; Alfred L George; Paul A Brink
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome.
Journal of the American College of Cardiology 2008;51(9):920-9.
2008: Lauren J Manderfield; Alfred L George
KCNE4 can co-associate with the I(Ks) (KCNQ1-KCNE1) channel complex.
The FEBS journal 2008;275(6):1336-49.
2008: Ingyu Kim; Yulong Fu; Kwokyin Hui; Gilbert W Moeckel; Weiyi Mai; Cunxi Li; Dan Liang; Ping Zhao; Jie Ma; Xing-Zhen Chen; Alfred L George; Robert J Coffey; Zhong-Ping Feng; Guanqing Wu
Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function.
Journal of the American Society of Nephrology : JASN 2008;19(3):455-68.
2008: Troy E Rhodes; Robert L Abraham; Richard C Welch; Carlos G Vanoye; Lia Crotti; Marianne Arnestad; Roberto Insolia; Matteo Pedrazzini; Chiara Ferrandi; Ashild Vege; Torleiv O Rognum; Dan Mark Roden; Peter J Schwartz; Alfred L George
Cardiac potassium channel dysfunction in sudden infant death syndrome.
Journal of molecular and cellular cardiology 2008;44(3):571-81.
2008: Christoph Lossin; Alfred L George
Myotonia congenita.
Advances in genetics 2008;63():25-55.
2008: Domenico Tricarico; Antonietta Mele; Birgit Liss; Frances M Ashcroft; Andrew L Lundquist; Reshma R Desai; Alfred L George; Diana Conte Camerino
Reduced expression of Kir6.2/SUR2A subunits explains KATP deficiency in K+-depleted rats.
Neuromuscular disorders : NMD 2008;18(1):74-80.
2008: Saba Sile; Digna R Velez; Niloufar B Gillani; Charles A Alexander; Charles R Alexander; Alfred L George; scott williams
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.
Human heredity 2008;65(1):33-46.
2007: Saba Sile; Niloufar B Gillani; Digna R Velez; Carlos G Vanoye; Chang Yu; Loretta M Byrne; James V Gainer; Nancy Brown; scott williams; Alfred L George
Functional BSND variants in essential hypertension.
American journal of hypertension 2007;20(11):1176-1182.
2007: Changlin Tian; Carlos G Vanoye; Congbao Kang; Richard C Welch; Hak Jun Kim; Alfred L George; Charles R Sanders
Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome.
Biochemistry 2007;46(41):11459-72.
2007: Adam R Platt; Robert W Woodhall; Alfred L George
Improved DNA sequencing quality and efficiency using an optimized fast cycle sequencing protocol.
BioTechniques 2007;43(1):58, 60, 62.
2007: Leomar Y Ballester; Carlos G Vanoye; Alfred L George
Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome.
Channels (Austin, Tex.) 2007;1(3):209-17.
2007: Dao W Wang; Reshma R Desai; Lia Crotti; Marianne Arnestad; Roberto Insolia; Matteo Pedrazzini; Chiara Ferrandi; Ashild Vege; Torleiv O Rognum; Peter J Schwartz; Alfred L George
Cardiac sodium channel dysfunction in sudden infant death syndrome.
Circulation 2007;115(3):368-76.
2007: Marianne Arnestad; Lia Crotti; Torleiv O Rognum; Roberto Insolia; Matteo Pedrazzini; Chiara Ferrandi; Ashild Vege; Dao W Wang; Troy E Rhodes; Alfred L George; Peter J Schwartz
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
Circulation 2007;115(3):361-7.
2007: Yajun Yi; Chun Li; Clay Miller; Alfred L George
Strategy for encoding and comparison of gene expression signatures.
Genome biology 2007;8(7):R133.
2007: Modena H Wilson; Craig J Coates; Alfred L George
PiggyBac transposon-mediated gene transfer in human cells.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(1):139-45.
2006: Kristopher M Kahlig; Sunita N Misra; Alfred L George
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(43):10958-66.
2006: Iori Ohmori; Kristopher M Kahlig; Thomas H Rhodes; Dao W Wang; Alfred L George
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Epilepsia 2006;47(10):1636-42.
2006: Marylyn Ritchie; David W Haas; Alison A Motsinger; John P Donahue; Huso Erdem; Stephen Raffanti; Peter Rebeiro; Alfred L George; Richard B Kim; Jonathan L Haines; Timothy R Sterling
Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2006;43(6):779-82.
2006: Saba Sile; Carlos G Vanoye; Alfred L George
Molecular physiology of renal ClC chloride channels/transporters.
Current opinion in nephrology and hypertension 2006;15(5):511-6.
2006: Leomar Y Ballester; D Woodrow Benson; Brenda Wong; Ian H Law; Katherine D Mathews; Carlos G Vanoye; Alfred L George
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
Human mutation 2006;27(4):388.
2006: Domenico Tricarico; Antonietta Mele; Andrew L Lundquist; Reshma R Desai; Alfred L George; Diana Conte Camerino
Hybrid assemblies of ATP-sensitive K+ channels determine their muscle-type-dependent biophysical and pharmacological properties.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(4):1118-23.
2006: Carlos G Vanoye; Christoph Lossin; Thomas H Rhodes; Alfred L George
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.
The Journal of general physiology 2006;127(1):1-14.
2006: Andrew L Lundquist; Candice L Turner; Leomar Y Ballester; Alfred L George
Expression and transcriptional control of human KCNE genes.
Genomics 2006;87(1):119-28.
2005: David W Haas; Laura M Smeaton; Robert W Shafer; Gregory Robbins; Gene D Morse; Line Labbe; Grant R Wilkinson; David B Clifford; Richard T D'Aquila; Victor De Gruttola; Richard B Pollard; Thomas C Merigan; Martin S Hirsch; Alfred L George; John P Donahue; Richard B Kim
Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study.
The Journal of infectious diseases 2005;192(11):1931-42.
2005: Thomas H Rhodes; Carlos G Vanoye; Iori Ohmori; Ikuo Ogiwara; Kazuhiro Yamakawa; Alfred L George
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
The Journal of physiology 2005;569(Pt 2):433-45.
2005: Modena H Wilson; Joseph M Kaminski; Alfred L George
Functional zinc finger/sleeping beauty transposase chimeras exhibit attenuated overproduction inhibition.
FEBS letters 2005;579(27):6205-9.
2005: Paul A Brink; Lia Crotti; Valerie A Corfield; Althea Goosen; Glenda Durrheim; Paula Hedley; Marshall Heradien; Gerhard Geldenhuys; Emilio Vanoli; Sara Bacchini; Carla Spazzolini; Andrew L Lundquist; Dan Mark Roden; Alfred L George; Peter J Schwartz
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
Circulation 2005;112(17):2602-10.
2005: Lia Crotti; Andrew L Lundquist; Roberto Insolia; Matteo Pedrazzini; Chiara Ferrandi; Gaetano M De Ferrari; Alessandro Vicentini; Ping Yang; Dan Mark Roden; Alfred L George; Peter J Schwartz
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Circulation 2005;112(9):1251-8.
2005: Alfred L George
Inherited disorders of voltage-gated sodium channels.
The Journal of clinical investigation 2005;115(8):1990-9.
2005: Li Zhang; D Woodrow Benson; Martin Tristani-Firouzi; Louis J Ptacek; Rabi Tawil; Peter J Schwartz; Alfred L George; Minoru Horie; Gregor Andelfinger; Gregory L Snow; Ying-Hui Fu; Michael J Ackerman; G Michael Vincent
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
Circulation 2005;111(21):2720-6.
2005: Dawood Darbar; Saba Sile; Frank A Fish; Alfred L George
Congenital long QT syndrome aggravated by salt-wasting nephropathy.
Heart rhythm : the official journal of the Heart Rhythm Society 2005;2(3):304-6.
2005: Yajun Yi; Janni Mirosevich; Yu Shyr; Robert J Matusik; Alfred L George
Coupled analysis of gene expression and chromosomal location.
Genomics 2005;85(3):401-12.
2005: Prince J Kannankeril; Dan Mark Roden; Kris J Norris; S Patrick Whalen; Alfred L George; Katherine T Murray
Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives.
Heart rhythm : the official journal of the Heart Rhythm Society 2005;2(2):134-40.
2005: Andrew L Lundquist; Lauren J Manderfield; Carlos G Vanoye; Christopher S Rogers; Brian S Donahue; Paul A Chang; Davis C Drinkwater; Katherine T Murray; Alfred L George
Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks).
Journal of molecular and cellular cardiology 2005;38(2):277-87.
2004: Christina I Petersen; Toni R McFarland; Svetlana Z Stepanovic; Ping Yang; David Reiner; Kenshi Hayashi; Alfred L George; Dan Mark Roden; James H Thomas; Jeffrey R Balser
In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(32):11773-8.
2004: Franklin M Mullins; Svetlana Z Stepanovic; Niloufar B Gillani; Alfred L George; Jeffrey R Balser
Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels.
The Journal of physiology 2004;558(Pt 3):729-44.
2004: Thomas H Rhodes; Christoph Lossin; Carlos G Vanoye; Dao W Wang; Alfred L George
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(30):11147-52.
2004: Terrence U H Chun; Michael R Epstein; Macdonald Dick II; Gregor Andelfinger; Leomar Y Ballester; Carlos G Vanoye; Alfred L George; D Woodrow Benson
Polymorphic ventricular tachycardia and KCNJ2 mutations.
Heart rhythm : the official journal of the Heart Rhythm Society 2004;1(2):235-41.
2004: Alfred L George
Molecular basis of inherited epilepsy.
Archives of neurology 2004;61(4):473-8.
2004: Jean-François Desaphy; Annamaria De Luca; Maria Paola Didonna; Alfred L George; Diana Camerino Conte; Annamaria D E Luca
Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block.
The Journal of physiology 2004;554(Pt 2):321-34.
2003: Christoph Lossin; Thomas H Rhodes; Reshma R Desai; Carlos G Vanoye; Dao Wang; Sanda Carniciu; Orrin Devinsky; Alfred L George
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2003;23(36):11289-95.
2003: Brian S Donahue; Daniel W Byrne; David Gailani; Alfred L George
Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation.
Anesthesiology 2003;99(6):1287-94.
2003: Sabina Kupershmidt; Iris C-H Yang; Kenshi Hayashi; Jian Wei; Siprachanh Chanthaphaychith; Christina I Petersen; David C Johns; Alfred L George; Dan Mark Roden; Jeffrey R Balser
The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003;17(15):2263-5.
2003: Michael D Floyd; Guillermo Gervasini; Andrew L Masica; Gail Mayo; Alfred L George; Kolari Bhat; Richard B Kim; Grant R Wilkinson
Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women.
Pharmacogenetics 2003;13(10):595-606.
2003: Brian S Donahue; David Gailani; Michael Scott Higgins; Davis C Drinkwater; Alfred L George
Factor V Leiden protects against blood loss and transfusion after cardiac surgery.
Circulation 2003;107(7):1003-8.
2003: Andrew R Tapper; Alfred L George
Heterologous expression of ion channels.
Methods in molecular biology (Clifton, N.J.) 2003;217():285-94.
2002: Christopher S Rogers; Carlos G Vanoye; Bruce A Sullenger; Alfred L George
Functional repair of a mutant chloride channel using a trans-splicing ribozyme.
The Journal of clinical investigation 2002;110(12):1783-9.
2002: Heidi C Howard; David B Mount; Daniel Rochefort; Nellie Byun; Nicolas Dupré; Jianming Lu; Xuemo Fan; Luyan Song; Jean-Baptiste Rivière; Claude Prévost; Jürgen Horst; Alessandro Simonati; Beate Lemcke; Rick Welch; Roger England; Frank Q Zhan; Adriana Mercado; William B Siesser; Alfred L George; Michael P McDonald; Jean-Pierre Bouchard; Jean Mathieu; Eric Delpire; Guy Rouleau
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Nature genetics 2002;32(3):384-92.
2002: Franklin M Mullins; Svetlana Z Stepanovic; Reshma R Desai; Alfred L George; Jeffrey R Balser
Extracellular sodium interacts with the HERG channel at an outer pore site.
The Journal of general physiology 2002;120(4):517-37.
2002: Gregor Andelfinger; Andrew R Tapper; Richard C Welch; Carlos G Vanoye; Alfred L George; D Woodrow Benson
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
American journal of human genetics 2002;71(3):663-8.
2002: Luyan Song; Adriana Mercado; Norma Vázquez; Qizhi Xie; Reshma Desai; Alfred L George; Gerardo Gamba; David B Mount
Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter.
Brain research. Molecular brain research 2002;103(1-2):91-105.
2002: Christoph Lossin; Dao W Wang; Thomas H Rhodes; Carlos G Vanoye; Alfred L George
Molecular basis of an inherited epilepsy.
Neuron 2002;34(6):877-84.
2002: Ping Yang; Hideaki Kanki; Benoit Drolet; Tao Yang; Jian Wei; Prakash C Viswanathan; Stefan H Hohnloser; Wataru Shimizu; Peter J Schwartz; Marshall Stanton; Katherine T Murray; Kris Norris; Alfred L George; Dan Mark Roden
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
Circulation 2002;105(16):1943-8.
2002: Hideaki Kanki; Ping Yang; Hong-Guang Xie; Richard B Kim; Alfred L George; Dan Mark Roden
Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome.
Journal of cardiovascular electrophysiology 2002;13(3):252-6.
2002: Carlos G Vanoye; Alfred L George
Functional characterization of recombinant human ClC-4 chloride channels in cultured mammalian cells.
The Journal of physiology 2002;539(Pt 2):373-83.
2002: Dao W Wang; Prakash C Viswanathan; Jeffrey R Balser; Alfred L George; D Woodrow Benson
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
Circulation 2002;105(3):341-6.
2002: Dan Mark Roden; Alfred L George
The genetic basis of variability in drug responses.
Nature reviews. Drug discovery 2002;1(1):37-44.
2002: Dan Mark Roden; Jeffrey R Balser; Alfred L George; Mark E Anderson
Cardiac ion channels.
Annual review of physiology 2002;64():431-75.
2001: Bassel Abou-Khalil; Q Ge; R Desai; Robin C C Ryther; A Bazyk; R Bailey; Jonathan L Haines; James S Sutcliffe; Alfred L George
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
Neurology 2001;57(12):2265-72.
2001: Jean-François Desaphy; Annamaria De Luca; Paolo Tortorella; Danila De Vito; Alfred L George; Diana Conte Camerino
Gating of myotonic Na channel mutants defines the response to mexiletine and a potent derivative.
Neurology 2001;57(10):1849-57.
2001: Andrew R Tapper; Alfred L George
Location and orientation of minK within the I(Ks) potassium channel complex.
The Journal of biological chemistry 2001;276(41):38249-54.
2001: Prakash C Viswanathan; Connie R Bezzina; Alfred L George; Dan Mark Roden; Arthur A M Wilde; Jeffrey R Balser
Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes.
Circulation 2001;104(10):1200-5.
2001: Alfred L George; Laura Bianchi; E M Link; Carlos G Vanoye
From stones to bones: the biology of ClC chloride channels.
Current biology : CB 2001;11(15):R620-8.
2001: Nikki Plaster; Rabi Tawil; Martin Tristani-Firouzi; S Canún; Saïd Bendahhou; A Tsunoda; Matthew R Donaldson; Susan T Iannaccone; E Brunt; Richard J Barohn; J Clark; Feza Deymeer; Alfred L George; F A Fish; A Hahn; A Nitu; Coskun Ozdemir; Piraye Serdaroglu; Sub H Subramony; G Wolfe; Ying-Hui Fu; Louis J Ptácek
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Cell 2001;105(4):511-9.
2001: Eric Rutledge; Laura Bianchi; Michael Christensen; C Boehmer; Rebecca Morrison; A Broslat; A M Beld; Alfred L George; David Greenstein; Kevin Strange
CLH-3, a ClC-2 anion channel ortholog activated during meiotic maturation in C. elegans oocytes.
Current biology : CB 2001;11(3):161-70.
2001: C Fahlke; Reshma R Desai; Niloufar B Gillani; Alfred L George
Residues lining the inner pore vestibule of human muscle chloride channels.
The Journal of biological chemistry 2001;276(3):1759-65.
2000: Dao W Wang; N Makita; A Kitabatake; Jeffrey R Balser; Alfred L George
Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.
Circulation research 2000;87(8):E37-43.
2000: Subbu Apparsundaram; Shawn M Ferguson; Alfred L George; Randy D Blakely
Molecular cloning of a human, hemicholinium-3-sensitive choline transporter.
Biochemical and biophysical research communications 2000;276(3):862-7.
2000: Andrew R Tapper; Alfred L George
MinK subdomains that mediate modulation of and association with KvLQT1.
The Journal of general physiology 2000;116(3):379-90.
2000: Jingsong Zhou; Jianxun Yi; N Hu; Alfred L George; Katherine T Murray
Activation of protein kinase A modulates trafficking of the human cardiac sodium channel in Xenopus oocytes.
Circulation research 2000;87(1):33-8.
2000: Jian Wei; Frank A Fish; Robert J Myerburg; Dan Mark Roden; Alfred L George
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.
Human mutation 2000;15(4):387-8.
1999: Yuriy Y Vilin; N Makita; Alfred L George; Peter C Ruben
Structural determinants of slow inactivation in human cardiac and skeletal muscle sodium channels.
Biophysical journal 1999;77(3):1384-93.
1999: Thomas H Rhodes; Charles H Vite; Urs Giger; Donald F Patterson; C Fahlke; Alfred L George
A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.
FEBS letters 1999;456(1):54-8.
1999: Jian Wei; Dao W Wang; M Alings; Frank A Fish; Mark S Wathen; Dan Mark Roden; Alfred L George
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
Circulation 1999;99(24):3165-71.
1999: David B Mount; Adriana Mercado; Luyan Song; J Xu; Alfred L George; Eric Delpire; Gerardo Gamba
Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family.
The Journal of biological chemistry 1999;274(23):16355-62.
1999: James R Groome; Esther Fujimoto; Alfred L George; Peter C Ruben
Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states.
The Journal of physiology 1999;516 ( Pt 3)():687-98.
1999: Sabata Pierno; A De Luca; C L Beck; Alfred L George; Diana Conte Camerino
Aging-associated down-regulation of ClC-1 expression in skeletal muscle: phenotypic-independent relation to the decrease of chloride conductance.
FEBS letters 1999;449(1):12-6.
1999: Dao W Wang; D VanDeCarr; Peter C Ruben; Alfred L George; Paul Bennett
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
FEBS letters 1999;448(2-3):231-4.
1999: Albert Cha; Peter C Ruben; Alfred L George; Esther Fujimoto; Francisco Bezanilla
Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation.
Neuron 1999;22(1):73-87.
1998: Modena H Wilson; Ram S Puranam; R Ottman; C Gilliam; Lee E Limbird; Alfred L George; James O McNamara
Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy.
Neurology 1998;51(6):1730-1.
1998: C Fahlke; Thomas H Rhodes; Reshma R Desai; Alfred L George
Pore stoichiometry of a voltage-gated chloride channel.
Nature 1998;394(6694):687-90.
1998: Alfred L George
Chloride channels and endocytosis: ClC-5 makes a dent.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(14):7843-5.
1997: C Fahlke; H T Yu; C L Beck; Thomas H Rhodes; Alfred L George
Pore-forming segments in voltage-gated chloride channels.
Nature 1997;390(6659):529-32.
1997: J Rosenfeld; K Sloan-Brown; Alfred L George
A novel muscle sodium channel mutation causes painful congenital myotonia.
Annals of neurology 1997;42(5):811-4.
1997: C Fahlke; C Dürr; Alfred L George
Mechanism of ion permeation in skeletal muscle chloride channels.
The Journal of general physiology 1997;110(5):551-64.
1997: Janet E Richmond; D VanDeCarr; David E Featherstone; Alfred L George; Peter C Ruben
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
Biophysical journal 1997;73(4):1896-903.
1997: Mohamed Chahine; Alfred L George
Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels.
FEBS letters 1997;412(3):621-4.
1997: J K Endsley; John A Phillips; Keith A Hruska; T Denneberg; J Carlson; Alfred L George
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
Kidney international 1997;51(6):1893-9.
1997: Dao W Wang; K Yazawa; N Makita; Alfred L George; Paul Bennett
Pharmacological targeting of long QT mutant sodium channels.
The Journal of clinical investigation 1997;99(7):1714-20.
1997: C Fahlke; C L Beck; Alfred L George
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(6):2729-34.
1997: Katherine T Murray; N N Hu; J R Daw; Hyeon-Gyu Shin; M T Watson; A B Mashburn; Alfred L George
Functional effects of protein kinase C activation on the human cardiac Na+ channel.
Circulation research 1997;80(3):370-6.
1997: K Sloan Brown; Alfred L George
Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.
Neurology 1997;48(2):542-3.
1997: C Fahlke; T Knittle; Christina A Gurnett; K P Campbell; Alfred L George
Subunit stoichiometry of human muscle chloride channels.
The Journal of general physiology 1997;109(1):93-104.
1996: N Makita; Paul Bennett; Alfred L George
Molecular determinants of beta 1 subunit-induced gating modulation in voltage-dependent Na+ channels.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1996;16(22):7117-27.
1996: Dao W Wang; K Yazawa; Alfred L George; Paul Bennett
Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(23):13200-5.
1996: J Zhang; Alfred L George; Robert C Griggs; G T Fouad; J Roberts; H Kwieciński; A M Connolly; Louis J Ptácek
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.
Neurology 1996;47(4):993-8.
1996: C L Beck; C Fahlke; Alfred L George
Molecular basis for decreased muscle chloride conductance in the myotonic goat.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(20):11248-52.
1996: Alfred L George
Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1996;11(9):1730-7.
1996: Dao W Wang; L Nie; Alfred L George; Paul Bennett
Distinct local anesthetic affinities in Na+ channel subtypes.
Biophysical journal 1996;70(4):1700-8.
1996: S Ji; Alfred L George; Richard Horn; Robert L Barchi
Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.
The Journal of general physiology 1996;107(2):183-94.
1996: N Makita; Paul Bennett; Alfred L George
Multiple domains contribute to the distinct inactivation properties of human heart and skeletal muscle Na+ channels.
Circulation research 1996;78(2):244-52.
1996: Dao W Wang; Alfred L George; Paul Bennett
Comparison of heterologously expressed human cardiac and skeletal muscle sodium channels.
Biophysical journal 1996;70(1):238-45.
1996: Naibo Yang; Alfred L George; Richard Horn
Molecular basis of charge movement in voltage-gated sodium channels.
Neuron 1996;16(1):113-22.
1995: Dan Mark Roden; Alfred L George; Paul Bennett
Recent advances in understanding the molecular mechanisms of the long QT syndrome.
Journal of cardiovascular electrophysiology 1995;6(11):1023-31.
1995: Alfred L George
Molecular genetics of ion channel diseases.
Kidney international 1995;48(4):1180-90.
1995: Paul Bennett; K Yazawa; N Makita; Alfred L George
Molecular mechanism for an inherited cardiac arrhythmia.
Nature 1995;376(6542):683-5.
1995: Alfred L George; T A Varkony; Harry A Drabkin; J Han; J F Knops; W H Finley; G B Brown; D C Ward; Melanie Haas Kucherlapati
Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21.
Cytogenetics and cell genetics 1995;68(1-2):67-70.
1995: S Ji; Alfred L George; R Horn; Robert L Barchi
Sodium channel mutations and disorders of excitation in human skeletal muscle.
Society of General Physiologists series 1995;50():61-76.
1994: Naibo Yang; S Ji; M Zhou; Louis J Ptácek; Robert L Barchi; Richard Horn; Alfred L George
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(26):12785-9.
1994: Alfred L George; K Sloan-Brown; G M Fenichel; G A Mitchell; R Spiegel; R M Pascuzzi
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
Human molecular genetics 1994;3(11):2071-2.
1994: N Makita; K Sloan-Brown; D O Weghuis; H H Ropers; Alfred L George
Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).
Genomics 1994;23(3):628-34.
1994: Mohamed Chahine; Paul Bennett; Alfred L George; Richard Horn
Functional expression and properties of the human skeletal muscle sodium channel.
Pflügers Archiv : European journal of physiology 1994;427(1-2):136-42.
1994: N Makita; Paul Bennett; Alfred L George
Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.
The Journal of biological chemistry 1994;269(10):7571-8.
1994: Mohamed Chahine; Alfred L George; M Zhou; S Ji; W Sun; Robert L Barchi; Richard Horn
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.
Neuron 1994;12(2):281-94.
1994: Alfred L George; J F Knops; J Han; W H Finley; T J Knittle; Michael M Tamkun; G B Brown
Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23.
Genomics 1994;19(2):395-7.
1993: J S Yang; Paul Bennett; N Makita; Alfred L George; Robert L Barchi
Expression of the sodium channel beta 1 subunit in rat skeletal muscle is selectively associated with the tetrodotoxin-sensitive alpha subunit isoform.
Neuron 1993;11(5):915-22.
1993: Paul Bennett; N Makita; Alfred L George
A molecular basis for gating mode transitions in human skeletal muscle Na+ channels.
FEBS letters 1993;326(1-3):21-4.
1993: Alfred L George; M A Crackower; Judith Abdalla; A J Hudson; G C Ebers
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
Nature genetics 1993;3(4):305-10.
1993: Louis J Ptacek; L Gouw; H Kwieciński; P McManis; Jerry R Mendell; Richard J Barohn; Alfred L George; Robert L Barchi; M Robertson; M F Leppert
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
Annals of neurology 1993;33(3):300-7.
1993: Alfred L George; G S Iyer; R Kleinfield; R G Kallen; Robert L Barchi
Genomic organization of the human skeletal muscle sodium channel gene.
Genomics 1993;15(3):598-606.
1992: Alfred L George; T J Knittle; Michael M Tamkun
Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(11):4893-7.
1992: Louis J Ptácek; Alfred L George; Robert L Barchi; Robert C Griggs; J E Riggs; M Robertson; M F Leppert
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
Neuron 1992;8(5):891-7.
1992: Alfred L George; Jeffrey Komisarof; R G Kallen; Robert L Barchi
Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.
Annals of neurology 1992;31(2):131-7.
1992: M E Gellens; Alfred L George; L Q Chen; Mohamed Chahine; Richard Horn; Robert L Barchi; R G Kallen
Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(2):554-8.
1991: Louis J Ptácek; Alfred L George; Robert C Griggs; Rabi Tawil; R G Kallen; Robert L Barchi; M Robertson; M F Leppert
Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
Cell 1991;67(5):1021-7.
1991: Alfred L George; David Ledbetter; R G Kallen; Robert L Barchi
Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.
Genomics 1991;9(3):555-6.
1989: Alfred L George; Olivier Staub; K Geering; Bernard C Rossier; Thomas R Kleyman; J P Kraehenbuhl
Functional expression of the amiloride-sensitive sodium channel in Xenopus oocytes.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(18):7295-8.