Publications
2011
Morris DA; Gailani M; Perez AV; Blaschke F; Dietz R; Haverkamp W; Oezcelik C
Right ventricular myocardial systolic and diastolic dysfunction in heart failure with normal left ventricular ejection fraction
Journal of the American Society of Echocardiography 24 (8): 886-897 (2011-08)
Drenckhahn JD
Heart development: mitochondria in command of cardiomyocyte differentiation
Developmental Cell 21 (3): 392-393 (2011-09-13)
Postma AV; van Engelen K; van de Meerakker J; Rahman T; Probst S; Baars MJ; Bauer U; Pickardt T; Sperling SR; Berger F; Moorman AF; Mulder BJ; Thierfelder L; Keavney B; Goodship J; Klaassen S
Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly
Circulation Cardiovascular Genetics 4 (1): 43-50 (2011-02-01)
Probst S; Oechslin E; Schuler P; Greutmann M; Boye P; Knirsch W; Berger F; Thierfelder L; Jenni R; Klaassen S
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
Circulation Cardiovascular Genetics 4 (4): 367-374 (2011-08-01)
2010
Pagonas N; Utz W; Schulz-Menger J; Busjahn A; Monti J; Thierfelder L; Dietz R; Klauss V; Gross M; Buschmann IR; Buschmann EE
Assessment of the effect of external counterpulsation on myocardial adaptive arteriogenesis by invasive functional measurements--design of the arteriogenesis network trial 2
International Journal of Cardiology 145 (3): 432-437 (2010-12-03)
Wenzel K; Wallukat G; Qadri F; Huebner N; Schulz H; Hummel O; Herse F; Heuser A; Fischer R; Heidecke H; Luft FC; Mueller DN; Dietz R; Dechend R
alpha(1A)-adrenergic receptor-directed autoimmunity induces left ventricular damage and diastolic dysfunction in rats
PLoS ONE 5 (2): e9409 (2010-02-24)
2009
Drenckhahn JD
Growth plasticity of the embryonic and fetal heart
BioEssays 31 (12): 1288-1298 (2009-12)
Park JK; Theuer S; Kirsch T; Lindschau C; Klinge U; Heuser A; Plehm R; Todiras M; Carmeliet P; Haller H; Luft FC; Mueller DN; Fiebeler A
Growth arrest specific protein 6 participates in DOCA-induced target-organ damage
Hypertension 54 (2): 359-364 (2009-08)
Gramlich M; Michely B; Krohne C; Heuser A; Erdmann B; Klaassen S; Hudson B; Magarin M; Kirchner F; Todiras M; Granzier H; Labeit S; Thierfelder L; Gerull B
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease
Journal of Molecular and Cellular Cardiology 47 (3): 352-358 (2009-09)
2008
Drenckhahn JD; Schwarz QP; Gray S; Laskowski A; Kiriazis H; Ming Z; Harvey RP; Du XJ; Thorburn DR; Cox TC
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development
Developmental Cell 15 (4): 521-533 (2008-10-14)
da Costa-Goncalves AC; Tank J; Plehm R; Diedrich A; Todiras M; Gollasch M; Heuser A; Wellner M; Bader M; Jordan J; Luft FC; Gross V
Role of the multidomain protein spinophilin in blood pressure and cardiac function regulation
Hypertension 52 (4): 702-707 (2008-10)
Pilz B; Kettritz R; Bieringer M; Luft FC
Coiled-coiled domains as a mechanism to stop haemorrhage after renal biopsies
Nephrology Dialysis Transplantation 23 (8): 2688-2689 (2008-08)
Wernicke D; Hess H; Gromnica-Ihle E; Krause A; Schmidt WA
Ultrasonography of salivary glands - a highly specific imaging procedure for diagnosis of Sjoegren's syndrome
Journal of Rheumatology 35 (2): 285-293 (2008-02)
Fischer R; Dechend R; Qadri F; Markovic M; Feldt S; Herse F; Park JK; Gapelyuk A; Schwarz I; Zacharzowsky UB; Plehm R; Safak E; Heuser A; Schirdewan A; Luft FC; Schunck WH; Mueller DN
Dietary n-3 polyunsaturated fatty acids and direct renin inhibition improve electrical remodeling in a model of high human renin hypertension
Hypertension 51 (2): 540-546 (2008-02)
Schmidt WA; Krause A; Schicke B; Wernicke D
Color doppler ultrasonography of hand and finger arteries to differentiate primary from secondary forms of Raynaud's phenomenon
Journal of Rheumatology 35 (8): 1591-1598 (2008-08)
Klaassen S
Focused Review: Ventricular noncompaction: An update
Braunwald´s Heart Disease: a textbook of cardiovascular medicine Part VIII: Chapter 65 (2008)
Monti J; Fischer J; Paskas S; Heinig M; Schulz H; Goesele C; Heuser A; Fischer R; Schmidt C; Schirdewan A; Gross V; Hummel O; Maatz H; Patone G; Saar K; Vingron M; Weldon SM; Lindpaintner K; Hammock BD; Rohde K; Dietz R; Cook SA; Schunck WH; Luft FC; Huebner N
Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease
Nature Genetics 40 (5): 529-537 (2008-05)
Merner ND; Hodgkinson KA; Haywood AF; Connors S; French VM; Drenckhahn JD; Kupprion C; Ramadanova K; Thierfelder L; McKenna W; Gallagher B; Morris-Larkin L; Bassett AS; Parfrey PS; Young TL
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
American Journal of Human Genetics 82 (4): 809-821 (2008-04)
Klaassen S; Probst S; Oechslin E; Gerull B; Krings G; Schuler P; Greutmann M; Huerlimann D; Yegitbasi M; Pons L; Gramlich M; Drenckhahn JD; Heuser A; Berger F; Jenni R; Thierfelder L
Mutations in sarcomere protein genes in left ventricular noncompaction
Circulation 117 (22): 2893-2901 (2008-06-03)
2007
Blaschke D; Parwani AS; Huemer M; Rolf S; Boldt LH; Dietz R; Haverkamp W
Torsade de pointes during combined treatment with risperidone and citalopram
Pharmacopsychiatry 40 (6): 294-295 (2007-11)
2006
Heuser A; Plovie ER; Ellinor PT; Grossmann KS; Shin JT; Wichter T; Basson CT; Lerman BB; Sasse-Klaassen S; Thierfelder L; MacRae CA; Gerull B
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy
American Journal of Human Genetics 79 (6): 1081-1088 (2006-12-01)
Ellinor PT; Sasse-Klaassen S; Probst S; Gerull B; Shin JT; Toeppel A; Heuser A; Michely B; Yoerger DM; Song BS; Pilz B; Krings G; Coplin B; Lange PE; Dec GW; Hennies HC; Thierfelder L; MacRae CA
A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26
Journal of the American College of Cardiology 48: 106-111 (2006-07-04)
Gerull B; Atherton J; Geupel A; Sasse-Klaassen S; Heuser A; Frenneaux M; McNabb M; Granzier H; Labeit S; Thierfelder L
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy
Journal of Molecular Medicine 84 (6): 478-483 (2006-06)
MacRae CA; Birchmeier W; Thierfelder L
Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism
Journal of Clinical Investigation 116 (7): 1825-1828 (2006-07)
2005
Schmidtmann A; Lindow C; Villard S; Heuser A; Muegge A; Gessner R; Granier C; Jaquet K
Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C
FEBS Journal 272 (23): 6087-6097 (2005-12)
Hodgkinson KA; Parfrey PS; Bassett AS; Kupprion C; Drenckhahn J; Norman MW; Thierfelder L; Stuckless SN; Dicks EL; McKenna WJ; Connors SP
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)
Journal of the American College of Cardiology 45: 400-408 (2005-01-01)
2004
Fujita H; Labeit D; Gerull B; Labeit S; Granzier HL
Titin isoform-dependent effect of calcium on passive myocardial tension
American Journal of Physiology Heart and Circulatory Physiology 287: H2528-H2534 (2004-01-01)
Sasse-Klaassen S; Probst S; Gerull B; Oechslin E; Nuernberg P; Heuser A; Jenni R; Hennies HC; Thierfelder L
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15
Circulation 109: 2720-2723 (2004-06-08)
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
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy [Corrigendum in: Nat Genet. 2005 Jan;37(1):106]
Nature Genetics 36: 1162-1164 (2004-10-17)
2002
Gerull B; Gramlich M; Atherton J; McNabb M; Trombitas K; Sasse-Klaassen S; Seidman JG; Seidman C; Granzier H; Labeit S; Frenneaux M; Thierfelder L
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
Nature Genetics 30: 201-204 (2002-01-01)
Petrow PK; Wernicke D; Westhoff CS; Hummel KM; Brauer R; Kriegsmann J; Gromnica-Ihle E; Gay RE; Gay S
Characterisation of the cell type-specificity of collagenase 3 mRNA expression in comparison with membrane type 1 matrix metal loproteinase and gelatinase A in the synovial membrane in rheumatoid arthritis
Annals of the Rheumatic Diseases 61 (5): 391-397 (2002-01-01)
Wernicke D; Schulze-Westoff C; Petrow P; Brauer R; Zacher J; Gay S; Gromnica-Ihle E
Stimulation of collagenase 3 expression in synovial fibroblasts of patients with rheumatoid arthritis by contact with a three-dimensional collagen matrix or with normal cartilage when coimplanted in NOD/SCID mice
Arthritis and Rheumatism 46: 64-74 (2002-01-01)
2001
Zee RY; Lindpaintner K; Struk B; Hennekens CH; Ridker PM
A prospective evaluation of the CD14 C(-260)T gene polymorphism and the risk of myocardial infarction
Atherosclerosis 154: 699-702 (2001-02-15)
Witt CC; Gerull B; Davies MJ; Centner T; Linke WA; Thierfelder L
Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C
Journal of Biological Chemistry 276: 5353-5359 (2001-01-01)
Cai L; Lumsden A; Guenther UP; Neldner SA; Zaech S; Knoblauch H; Ramesar R; Hohl D; Callen DF; Neldner KH; Lindpaintner K; Richards RI; Struk B
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum
Journal of Molecular Medicine 79: 536-546 (2001-01-01)
Zee RYL; Fernandez-Ortiz A; Macaya C; Pintor E; Lindpaintner K; Fernandez-Cruz A
ACE D/I polymorphism and incidence of post-PTCA restenosis - A prospective, angiography-based evaluation
Hypertension 37: 851-855 (2001-01-01)
2000
Struk B; Cai L; Zaech S; Chung WJJ; Lumsden A; Stumm M; Huber M; Schaen L; Kim CA; Goldsmith LA; Viljoen D; Figuera LE; Fuchs W; Munier F; Ramesar R; Hohl D; Richards R; Neldner KH; Lindpaintner K
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Journal of Molecular Medicine 78: 282-286 (2000-01-01)
Cai L; Struk B; Adams MD; Ji W; Haaf T; Kang HL; Dho SH; Xu XQ; Ringpfeil F; Nancarrow J; Zaech S; Schaen L; Stumm M; Niu TH; Chung J; Lunze K; Verrecchia B; Goldsmith LA; Viljoen D; Figuera LE; Fuchs W; Lebwohl M; Uitto J; Richards R; Hohl D; Ramesar R; Callen DF; Kim UJ; Doggett NA; Neldner KH; Lindpaintner K
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
Journal of Molecular Medicine 78: 36-46 (2000-01-01)
1999
Eisenberg I; Thiel C; Levi T; Tiram E; Argov Z; Sadeh M; Jackson CL; Thierfelder L; Mitrani-Rosenbaum S
Fine-structure mapping of the hereditary inclusion body myopathy locus
Genomics 55: 43-48 (1999-01-01)
Golitsina N; An Y; Greenfield NJ; Thierfelder L; Iizuka K; Seidman JG; Seidman CE; Lehrer SS; Hitchcock-DeGregori SE
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function
Biochemistry 38: 3850-3850 (1999-03-23)
1997
Struk B; Neldner KH; Rao VS; Stjean P; Lindpaintner K
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
Human Molecular Genetics 6 (11): 1823-1828 (1997-10)
Kreutz R; Stock P; Struk B; Huebner N; Ganten D; Lindpaintner K
Evidence for primary genetic determination of heart rate regulation. Chromosomal mapping of a genetic locus in the rat
Circulation 96 (4): 1078-1081 (1997-08-19)
Coviello DA; Maron BJ; Spirito P; Watkins H; Vosberg HP; Thierfelder LH; Schoen FJ; Seidman JG; Seidman CE
Clinical features of hypertrophic cardiomyopathy caused by mutation of a hot spot in the alpha tropomyosin gene
Journal of the American College of Cardiology 29 (3): 635-640 (1997-03-01)
Kreutz R; Struk S; Rubattu S; Huebner N; Szpirer J; Szpirer C; Ganten D; Lindpaintner K
Role of the alpha, beta, and gamma subunits of epithelial sodium channel in a model of polygenic hypertension
Hypertension 29: 131-136 (1997-01-01)
Golitsina N; An Y; Greenfield NJ; Thierfelder LH; Iizuka K; Seidman JG; Seidman CE; Lehrer SS; Hitchcock DeGregori SE
Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function
Biochemistry 36: 4637-4642 (1997-01-01)
1996
Kreutz R; Stock P; Struk B; Lindpaintner K
The Y chromosome. Epistatic and ecogenetic interactions in genetic hypertension
Hypertension 28: 895-897 (1996-11-01)
1995
MacRae CA; Ghaisas N; Kass S; Donnelly S; Basson CT; Watkins HC; Anan R; Thierfelder LH; McGarry K; Rowland E; McKenna WJ; Seidman JG; Seidman CE
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
Journal of Clinical Investigation 96 (3): 1216-1220 (1995-09)
Watkins H; Conner D; Thierfelder LH; Jarcho JA; MacRae C; McKenna WJ; Maron BJ; Seidman JG; Seidman CE
Mutations in the cardiac myosin binding protein-c gene on chromosome 11 cause familial hypertrophic cardiomyopathy
Nature Genetics 11 (4): 434-437 (1995-12-01)
Watkins H; McKenna WJ; Thierfelder LH; Suk HJ; Anan R; Odonoghue A; Spirito P; Matsumori A; Moravec CS; Seidman JG; Seidman CE
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
New England Journal of Medicine 332 (16): 1058-1064 (1995-04-20)
1994
MacRae C; Watkins HC; Jarcho JA; Thierfelder LH; McKenna WJ; Seidman JG; Seidman CE
An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations
Circulation 89 (1): 33-35 (1994-01)
Thierfelder LH; Watkins H; MacRae C; Lamas R; McKenna W; Vosberg HP; Seidman JG; Seidman CE
alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere
Cell 77 (5): 701-712 (1994-06-03)
Anan R; Greve G; Thierfelder LH; Watkins H; McKenna WJ; Solomon S; Vecchio C; Shono H; Nakao S; Tanaka H
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
Journal of Clinical Investigation 93 (1): 280-285 (1994-01)
1993
Watkins H; MacRae C; Thierfelder LH; Chou Y; Frenneaux M; McKenna W; Seidman JG; Seidman CE
A disease locus for familiar hypertrophic cardiomyopathy maps to chromosome 1q3
Nature Genetics 3: 333-336 (1993-01-01)
Thierfelder LH; MacRae C; Watkins H; Tomfohrde J; Williams M; McKenna W; Bohm K; Noeske G; Schlepper M; Bowcock A
A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
Proceedings of the National Academy of Sciences of the United States of America 90 (13): 6270-6274 (1993-07-01)
Watkins H; MacRae C; Thierfelder LH; McKenna WJ; Seidman CE; Seidman JG
A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q
Human Molecular Genetics 2: 1084-1084 (1993-01-01)
Watkins H; Thierfelder LH; Anan R; Jarcho J; Matsumori A; McKenna W; Seidman JG; Seidman CE
Independent origin of identical cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
American Journal of Human Genetics 53 (6): 1180-1185 (1993-12)
1992
Watkins H; Thierfelder L; Hwang DS; McKenna W; Seidman JG; Seidman CE
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations
Journal of Clinical Investigation 90 (5): 1666-1671 (1992-11)