Institut für Genetik von Herzerkrankungen (IfGH)

 

 

Ausgewählte Publikationen

 

Im folgenden werden hochrangige, wissenschaftliche Publikationen (IF >10) von Professor Dr.med. E. Schulze-Bahr (Abtl. 1) und von Professor Dr. rer.phil. G. Seebohm (Abtl. 2) aufgeführt.

Instituts-bezogene Publikationen sind solche ab 2009 (Prof. Schulze-Bahr) bzw. ab 2011 (Prof. Seebohm).

Das vollständige Publikationsverzeichnis findet sich in PubMed.

 

A mutation in the G-protein gene GNB2 causes familial sinus node and atrioventricular conduction dysfunction. 

Circ Res (2017) 120, e33-e44. 

Stallmeyer B, Kuss J, Kotthoff S, Zumhagen S, Vowinkel K, Rinne S, Matschke LA, Friedrich C, Schulze-Bahr E, Rust S, Seebohm G, Decher N, Schulze-Bahr E. 

 

Sodium permeable and "hypersensitive" TREK-1 channels cause ventricular tachycardia. 

EMBO Mol Med (2017) 9, 403-414. 

Decher N, Ortiz-Bonnin B, Friedrich C, Schewe M, Kiper AK, Rinne S, Seemann G, Peyronnet R, Zumhagen S, Bustos D, Kockskamper J, Kohl P, Just S, Gonzalez W, Baukrowitz T, Stallmeyer B, Schulze-Bahr E. 

 

Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking. 

Eur Heart J (2016) 37, 640-650. 

Anneken L, Baumann S, Vigneault P, Biliczki P, Friedrich C, Xiao L, Girmatsion Z, Takac I, Brandes RP, Kissler S, Wiegratz I, Zumhagen S, Stallmeyer B, Hohnloser SH, Klingenheben T, Schulze-Bahr E, Nattel S, Ehrlich JR. 

 

KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting. 

Nat Commun (2016) 7, 12795. 

Wrobel E, Rothenberg I, Krisp C, Hundt F, Fraenzel B, Eckey K, Linders JT, Gallacher DJ, Towart R, Pott L, Pusch M, Yang T, Roden DM, Kurata HT, Schulze-Bahr E, Strutz-Seebohm N, Wolters D, Seebohm G. 

 

Antiarrhythmic drugs target atrial TASK-1 K+ channels: mode of action and implications for AF therapy. 

Eur Heart J (2016) 37, 709-710. 

Schmidt C, Wiedmann F, Ratte A, Zhou X, Lang S, Wenzel W, Karck M, Borggrefe M, Seebohm G, Katus H, Thomas D. 

 

Cardiovascular disease and sudden cardiac death: between genetics and genomics. 

Eur Heart J (2015) 36, 1643-1645. 

Stallmeyer B, Schulze-Bahr E. 

 

Atomic basis for therapeutic activation of neuronal potassium channels. 

Nat Commun (2015) 6, 8116. 

Kim RY, Yau MC, Galpin JD, Seebohm G, Ahern CA, Pless SA, Kurata HT. 

 

Reply to Christ et al.: LQT1 and JLNS phenotypes in hiPSC-derived cardiomyocytes are due to KCNQ1 mutations. 

Proc Natl Acad Sci U S A (2015) 112, E1969. 

Greber B, Verkerk AO, Seebohm G, Mummery CL, Bellin M. 

 

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. 

Proc Natl Acad Sci U S A (2014) 111, E5383-5392. 

Zhang M, D'Aniello C, Verkerk AO, Wrobel E, Frank S, Ward-van Oostwaard D, Piccini I, Freund C, Rao J, Seebohm G, Atsma DE, Schulze-Bahr E, Mummery CL, Greber B, Bellin M. 

 

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder. 

EMBO Mol Med (2014) 6, 937-951. 

Friedrich C, Rinne S, Zumhagen S, Kiper AK, Silbernagel N, Netter MF, Stallmeyer B, Schulze-Bahr E, Decher N. 

 

The International Serious Adverse Events Consortium (iSAEC) phenotype standardization project for drug-induced torsades de pointes. 

Eur Heart J (2013) 34, 1958-1963. 

Behr ER, January C, Schulze-Bahr E, Grace AA, Kaab S, Fiszman M, Gathers S, Buckman S, Youssef A, Pirmohamed M, Roden D. 

 

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 

Nat Genet (2013) 45, 1044-1049. 

Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kaab S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bezieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. 

 

Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry. 

Circulation (2010) 121, 635-643. 

Probst V, Veltmann C, Eckardt L, Meregalli PG, Gaita F, Tan HL, Babuty D, Sacher F, Giustetto C, Schulze-Bahr E, Borggrefe M, Haissaguerre M, Mabo P, Le Marec H, Wolpert C, Wilde AA. 

 

 

Transcriptional profiling of ion channel genes in Brugada syndrome and other right ventricular arrhythmogenic diseases. 

Eur Heart J (2009) 30, 487-496. 

Gaborit N, Wichter T, Varro A, Szuts V, Lamirault G, Eckardt L, Paul M, Breithardt G, Schulze-Bahr E, Escande D, Nattel S, Demolombe S. 

 

Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. 

J Clin Invest (2009) 119, 2737-2744. 

Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O. 

 

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels. 

Circ Res (2008) 103, 1451-1457. 

Seebohm G, Strutz-Seebohm N, Ureche ON, Henrion U, Baltaev R, Mack AF, Korniychuk G, Steinke K, Tapken D, Pfeufer A, Kaab S, Bucci C, Attali B, Merot J, Tavare JM, Hoppe UC, Sanguinetti MC, Lang F. 

 

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 

J Clin Invest (2008) 118, 2157-2168. 

Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Munchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H. 

 

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 

J Clin Invest (2008) 118, 2219-2229. 

Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL, Jr., Roden DM. 

 

Modulation of potassium channel function confers a hyperproliferative invasive phenotype on embryonic stem cells. 

Proc Natl Acad Sci U S A (2008) 105, 16608-16613. 

Morokuma J, Blackiston D, Adams DS, Seebohm G, Trimmer B, Levin M. 

 

Regulation of endocytic recycling of KCNQ1/KCNE1 potassium channels. 

Circ Res (2007) 100, 686-692. 

Seebohm G, Strutz-Seebohm N, Birkin R, Dell G, Bucci C, Spinosa MR, Baltaev R, Mack AF, Korniychuk G, Choudhury A, Marks D, Pagano RE, Attali B, Pfeufer A, Kass RS, Sanguinetti MC, Tavare JM, Lang F. 

 

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. 

Circulation (2007) 116, 2366-2375. 

Crotti L, Spazzolini C, Schwartz PJ, Shimizu W, Denjoy I, Schulze-Bahr E, Zaklyazminskaya EV, Swan H, Ackerman MJ, Moss AJ, Wilde AA, Horie M, Brink PA, Insolia R, De Ferrari GM, Crimi G. 

 

Role of programmed ventricular stimulation in patients with Brugada syndrome: a meta-analysis of worldwide published data. 

Eur Heart J (2007) 28, 2126-2133. 

Paul M, Gerss J, Schulze-Bahr E, Wichter T, Vahlhaus C, Wilde AA, Breithardt G, Eckardt L. 

 

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. 

Circulation (2006) 113, 783-790. 

Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I. 

 

Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. 

Circulation (2006) 114, 2096-2103. 

Tan HL, Bardai A, Shimizu W, Moss AJ, Schulze-Bahr E, Noda T, Wilde AA. 

 

Electrocardiographic risk stratification in families with congenital long QT syndrome. 

Eur Heart J (2006) 27, 2074-2080. 

Monnig G, Eckardt L, Wedekind H, Haverkamp W, Gerss J, Milberg P, Wasmer K, Kirchhof P, Assmann G, Breithardt G, Schulze-Bahr E. 

 

Female predominance and transmission distortion in the long-QT syndrome. 

N Engl J Med (2006) 355, 2744-2751. 

Imboden M, Swan H, Denjoy I, Van Langen IM, Latinen-Forsblom PJ, Napolitano C, Fressart V, Breithardt G, Berthet M, Priori S, Hainque B, Wilde AA, Schulze-Bahr E, Feingold J, Guicheney P. 

 

Letter regarding article by Burke et al, "role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks". 

Circulation (2006) 113, e709; author reply e709. 

Etzrodt D, Schulze-Bahr E. 

 

Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction. 

Circ Res (2005) 96, 703-704. 

Schulze-Bahr E. 

 

Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. 

Circulation (2005) 111, 659-670. 

Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. 

 

Abnormal myocardial presynaptic norepinephrine recycling in patients with Brugada syndrome. 

Circulation (2004) 110, 3017-3022. 

Kies P, Wichter T, Schafers M, Paul M, Schafers KP, Eckardt L, Stegger L, Schulze-Bahr E, Rimoldi O, Breithardt G, Schober O, Camici PG. 

 

Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3. 

Circulation (2004) 109, e205-206. 

Kehl HG, Haverkamp W, Rellensmann G, Yelbuz TM, Krasemann T, Vogt J, Schulze-Bahr E. 

 

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 

Nat Genet (2004) 36, 1162-1164. 

Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. 

 

Pacemaker channel dysfunction in a patient with sinus node disease. 

J Clin Invest (2003) 111, 1537-1545. 

Schulze-Bahr E, Neu A, Friederich P, Kaupp UB, Breithardt G, Pongs O, Isbrandt D. 

 

Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels. 

Circ Res (2003) 93, 941-947. 

Seebohm G, Pusch M, Chen J, Sanguinetti MC. 

 

Cardiac autonomic dysfunction in Brugada syndrome. 

Circulation (2002) 105, 702-706. 

Wichter T, Matheja P, Eckardt L, Kies P, Schafers K, Schulze-Bahr E, Haverkamp W, Borggrefe M, Schober O, Breithardt G, Schafers M. 

 

Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels. 

Proc Natl Acad Sci U S A (2002) 99, 12461-12466. 

Chen J, Seebohm G, Sanguinetti MC. 

 

Electrophysiologic investigation in Brugada syndrome; yield of programmed ventricular stimulation at two ventricular sites with up to three premature beats. 

Eur Heart J (2002) 23, 1394-1401. 

Eckardt L, Kirchhof P, Schulze-Bahr E, Rolf S, Ribbing M, Loh P, Bruns HJ, Witte A, Milberg P, Borggrefe M, Breithardt G, Wichter T, Haverkamp W. 

 

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. 

Circulation (2001) 103, 89-95. 

Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R. 

 

Molecular diagnosis in a child with sudden infant death syndrome. 

Lancet (2001) 358, 1342-1343. 

Schwartz PJ, Priori SG, Bloise R, Napolitano C, Ronchetti E, Piccinini A, Goj C, Breithardt G, Schulze-Bahr E, Wedekind H, Nastoli J. 

 

De novo mutation in the SCN5A gene associated with early onset of sudden infant death. 

Circulation (2001) 104, 1158-1164. 

Wedekind H, Smits JP, Schulze-Bahr E, Arnold R, Veldkamp MW, Bajanowski T, Borggrefe M, Brinkmann B, Warnecke I, Funke H, Bhuiyan ZA, Wilde AA, Breithardt G, Haverkamp W. 

 


 

C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 

Circulation (1999) 99, 1464-1470. 

Berthet M, Denjoy I, Donger C, Demay L, Hammoude H, Klug D, Schulze-Bahr E, Richard P, Funke H, Schwartz K, Coumel P, Hainque B, Guicheney P. 

 

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. 

Circulation (1999) 99, 1344-1347. 

Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, Towbin JA. 

 

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 

Nature (1998) 392, 293-296. 

Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q. 

 

KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. 

Nat Genet (1997) 17, 267-268. 

Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H. 

 

ECG repolarization patterns in chromosome 7-linked QT syndrome (LQTS 2). 

Circulation (1996) 94, 2318-2319. 

Schulze-Bahr E, Haverkamp W, Breithardt G, Funke H, Wiebusch H, Assmann G. 

 

The long-QT syndrome. 

N Engl J Med (1995) 333, 1783-1784. 

Schulze-Bahr E, Haverkamp W, Funke H. 

 

 
 
 
 

 

 

 

 

 

 

  

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