Browse by Research Team

American Journal of Cardiology

A novel titin mutation in adult-onset familial dilated cardiomyopathy.
Yoskovitz, G., Peled, Y., Gramlich, M., Lahat, H., Resnik-Wolf, H., Feinberg, M.S., Afek, A., Pras, E., Arad, M., Gerull, B. and Freimark, D.
American Journal of Cardiology 109 (11): 1644-1650. 1 June 2012

American Journal of Human Genetics

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner, N.D., Hodgkinson, K.A., Haywood, A.F., Connors, S., French, V.M., Drenckhahn, J.D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A.S., Parfrey, P.S. and Young, T.L.
American Journal of Human Genetics 82 (4): 809-821. 11 April 2008

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A., Plovie, E.R., Ellinor, P.T., Grossmann, K.S., Shin, J.T., Wichter, T., Basson, C.T., Lerman, B.B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C.A. and Gerull, B.
American Journal of Human Genetics 79 (6): 1081-1088. December 2006

Independent origin of identical cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins, H., Thierfelder, L.H., Anan, R., Jarcho, J., Matsumori, A., McKenna, W., Seidman, J.G. and Seidman, C.E.
American Journal of Human Genetics 53 (6): 1180-1185. December 1993

American Journal of Medical Genetics

Response to correspondence by Dr. Finsterer and Dr. Stoellberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction.
Thierfelder, L., Sasse-Klaassen, S., Gerull, B., Jenni, R. and Oechslin, E.
American Journal of Medical Genetics 131A : 222-223. 2 November 2004

American Journal of Medical Genetics A

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A (2): 162-167. 1 June 2003

American Journal of Physiology Heart and Circulatory Physiology

Titin isoform-dependent effect of calcium on passive myocardial tension.
Fujita, H., Labeit, D., Gerull, B., Labeit, S. and Granzier, H.L.
American Journal of Physiology Heart and Circulatory Physiology 287 (6): H2528-H2534. 1 January 2004

American Journal of Physiology Regulatory Integrative and Comparative Physiology

α-tropomyosin mutations Asp175Asn and Glu180Gly affect cardiac function in transgenic rats in different ways.
Wernicke, D., Thiel, C., Duja-Isac, C.M., Essine, K.V., Spindler, M., Nunez, D.J.R., Plehm, R., Wessel, N., Hammes, A., Edwards, R.J., Lippoldt, A., Zacharias, U., Stroemer, H., Neubauer, S., Davies, M.J., Morano, I. and Thierfelder, L.
American Journal of Physiology Regulatory Integrative and Comparative Physiology 287 (3): R685-R695. 1 September 2004

Annals of the Rheumatic Diseases

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.
Petrow, P.K., Wernicke, D., Schulze-Westhoff, C., Hummel, K.M., Brauer, R., Kriegsmann, J., Gromnica-Ihle, E., Gay, R.E. and Gay, S.
Annals of the Rheumatic Diseases 61 (5): 391-397. May 2002

Arteriosclerosis Thrombosis and Vascular Biology

Activation of peroxisome proliferator-activated receptor-δ as novel therapeutic strategy to prevent in-stent restenosis and stent thrombosis.
Hytönen, J., Leppänen, O., Braesen, J.H., Schunck, W.H., Mueller, D., Jung, F., Mrowietz, C., Jastroch, M., von Bergwelt-Baildon, M., Kappert, K., Heuser, A., Drenckhahn, J.D., Pieske, B., Thierfelder, L., Ylä-Herttuala, S. and Blaschke, F.
Arteriosclerosis Thrombosis and Vascular Biology 36 (8): 1534-1548. August 2016

Arthritis and Rheumatism

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.
Wernicke, D., Schulze-Westoff, C., Petrow, P., Brauer, R., Zacher, J., Gay, S. and Gromnica-Ihle, E.
Arthritis and Rheumatism 46 (1): 64-74. 1 January 2002

Atherosclerosis

A prospective evaluation of the CD14 C(-260)T gene polymorphism and the risk of myocardial infarction.
Zee, R.Y., Lindpaintner, K., Struk, B., Hennekens, C.H. and Ridker, P.M.
Atherosclerosis 154 (3): 699-702. 15 February 2001

Basic Research in Cardiology

Energetic consequences of substances currently used or recommended for long-term treatment of chronic heart failure.
Holubarsch, C., Hasenfuss, G., Thierfelder, L. and Just, H.
Basic Research in Cardiology 86 Suppl 1 : 107-112. 1 January 1991

BioEssays

Growth plasticity of the embryonic and fetal heart.
Drenckhahn, J.D.
BioEssays 31 (12): 1288-1298. December 2009

Biochemistry

Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.
Golitsina, N., An, Y., Greenfield, N.J., Thierfelder, L.H., Iizuka, K., Seidman, J.G., Seidman, C.E., Lehrer, S.S. and Hitchcock-DeGregori, S.E.
Biochemistry 36 : 4637-4642. 1 January 1997

Biomedizinische Technik

Autonomic cardiac control in animal models of cardiovascular diseases II. Variability analysis in transgenic rats with alpha-tropomyosin mutations Asp175Asn and Glu180Gly.
Wernicke, D., Wessel, N., Malberg, H., Plehm, R., Bauernschmitt, R. and Thierfelder, L.
Biomedizinische Technik 52 (1): 50-55. February 2007

Autonomic cardiac control in animal models of cardiovascular diseases. I. Methods of variability analysis.
Wessel, N., Bauernschmitt, R., Wernicke, D., Kurths, J. and Malberg, H.
Biomedizinische Technik 52 (1): 43-49. February 2007

Braunwald's heart disease: a textbook of cardiovascular medicine

Focused Review: Ventricular noncompaction: an update.
Klaassen, S.
In: Braunwald's Heart Disease: a textbook of cardiovascular medicine. Saunders, Philadelphia, Pa., Chapter 65. ISBN 978-1-416-04104-7 2008

Cardiovascular Research

Impaired myocardial development resulting in neonatal cardiac hypoplasia alters postnatal growth and stress response in the heart.
Drenckhahn, J.D., Strasen, J., Heinecke, K., Langner, P., Yin, K.V., Skole, F., Hennig, M., Spallek, B., Fischer, R., Blaschke, F., Heuser, A., Cox, T.C., Black, M.J. and Thierfelder, L.
Cardiovascular Research 106 (1): 43-54. 1 April 2015

Cell

alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
Thierfelder, L.H., Watkins, H., MacRae, C., Lamas, R., McKenna, W., Vosberg, H.P., Seidman, J.G. and Seidman, C.E.
Cell 77 (5): 701-712. 3 June 1994

Chaos

Cardiac magnetic field map topology quantified by Kullback-Leibler entropy identifies patients with hypertrophic cardiomyopathy.
Schirdewan, A., Gapelyuk, A., Fischer, R., Koch, L., Schutt, H., Zacharzowsky, U., Dietz, R., Thierfelder, L. and Wessel, N.
Chaos 17 (1): 15118-15128. March 2007

Circulation

Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Huerlimann, D., Yegitbasi, M., Pons, L., Gramlich, M., Drenckhahn, J.D., Heuser, A., Berger, F., Jenni, R. and Thierfelder, L.
Circulation 117 (22): 2893-2901. 3 June 2008

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Sasse-Klaassen, S., Probst, S., Gerull, B., Oechslin, E., Nuernberg, P., Heuser, A., Jenni, R., Hennies, H.C. and Thierfelder, L.
Circulation 109 (22): 2720-2723. 8 June 2004

Evidence for primary genetic determination of heart rate regulation. Chromosomal mapping of a genetic locus in the rat.
Kreutz, R., Stock, P., Struk, B., Hübner, N., Ganten, D. and Lindpaintner, K.
Circulation 96 (4): 1078-1081. 19 August 1997

An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations.
MacRae, C., Watkins, H.C., Jarcho, J.A., Thierfelder, L.H., McKenna, W.J., Seidman, J.G. and Seidman, C.E.
Circulation 89 (1): 33-35. January 1994

Circulation Cardiovascular Genetics

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull, B., Kirchner, F., Chong, J.X., Tagoe, J., Chandrasekharan, K., Strohm, O., Waggoner, D., Ober, C. and Duff, H.J.
Circulation Cardiovascular Genetics 6 (4): 327-336. August 2013

Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
Kirchner, F., Schuetz, A., Boldt, L.H., Martens, K., Dittmar, G., Haverkamp, W., Thierfelder, L., Heinemann, U. and Gerull, B.
Circulation Cardiovascular Genetics 5 (4): 400-411. 1 August 2012

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
Probst, S., Oechslin, E., Schuler, P., Greutmann, M., Boye, P., Knirsch, W., Berger, F., Thierfelder, L., Jenni, R. and Klaassen, S.
Circulation Cardiovascular Genetics 4 (4): 367-374. 1 August 2011

Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly.
Postma, A.V., van Engelen, K., van de Meerakker, J., Rahman, T., Probst, S., Baars, M.J., Bauer, U., Pickardt, T., Sperling, S.R., Berger, F., Moorman, A.F., Mulder, B.J., Thierfelder, L., Keavney, B., Goodship, J. and Klaassen, S.
Circulation Cardiovascular Genetics 4 (1): 43-50. February 2011

Circulation Research

A nuclear receptor corepressor-dependent pathway mediates suppression of cytokine-induced C-reactive protein gene expression by liver X receptor.
Blaschke, F., Takata, Y., Caglayan, E., Collins, A., Tontonoz, P., Hsueh, W.A. and Tangirala, R.K.
Circulation Research 99 (12): e88-e99. 8 December 2006

Clinical Cardiology

Myocardial energetics in dilated cardiomyopathy.
Thierfelder, L., Holubarsch, C.H., Hasenfuss, G. and Just, H.J.
Clinical Cardiology 13 (9): 649-654. September 1990

Clinical and Experimental Pharmacology and Physiology

Animal models of genetic hypertension: what can we learn for human hypertension?
Rubattu, S., Struk, B., Kreutz, R., Volpe, M. and Lindpaintner, K.
Clinical and Experimental Pharmacology and Physiology 22 : S386-S393. 1 December 1995

Current Protocols in Human Genetics

Mutation detection by cycle sequencing.
Thierfelder, L.
Current Protocols in Human Genetics Chapter 7 (Unit 7.7) May 2001

Developmental Cell

Heart development: mitochondria in command of cardiomyocyte differentiation.
Drenckhahn, J.D.
Developmental Cell 21 (3): 392-393. 13 September 2011

Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.
Drenckhahn, J.D., Schwarz, Q.P., Gray, S., Laskowski, A., Kiriazis, H., Ming, Z., Harvey, R.P., Du, X.J., Thorburn, D.R. and Cox, T.C.
Developmental Cell 15 (4): 521-533. 14 October 2008

EMBO Molecular Medicine

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.
Gramlich, M., Pane, L.S., Zhou, Q., Chen, Z., Murgia, M., Schoetterl, S., Goedel, A., Metzger, K., Brade, T., Parrotta, E., Schaller, M., Gerull, B., Thierfelder, L., Aartsma-Rus, A., Labeit, S., Atherton, J.J., McGaughran, J., Harvey, R.P., Sinnecker, D., Mann, M., Laugwitz, K.L., Gawaz, M.P. and Moretti, A.
EMBO Molecular Medicine 7 (5): 562-576. 10 March 2015

European Heart Journal

The heart in heart failure. Ventricular and myocardial alterations.
Holubarsch, C., Hasenfuss, G., Thierfelder, L., Pieske, B. and Just, H.
European Heart Journal 12 Suppl. C : 8-13. 1 August 1991

European Journal of Clinical Investigation

Improvement of fractional flow reserve and collateral flow by treatment with external counterpulsation (Art.Net.-2 Trial).
Buschmann, E.E., Utz, W., Pagonas, N., Schulz-Menger, J., Busjahn, A., Monti, J., Maerz, W., le Noble, F., Thierfelder, L., Dietz, R., Klauss, V., Gross, M. and Buschmann, I.R.
European Journal of Clinical Investigation 39 (10): 866-875. October 2009

FEBS Journal

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.
Schmidtmann, A., Lindow, C., Villard, S., Heuser, A., Muegge, A., Gessner, R., Granier, C. and Jaquet, K.
FEBS Journal 272 (23): 6087-6097. December 2005

Genomics

Fine-structure mapping of the hereditary inclusion body myopathy locus.
Eisenberg, I., Thiel, C., Levi, T., Tiram, E., Argov, Z., Sadeh, M., Jackson, C.L., Thierfelder, L. and Mitrani-Rosenbaum, S.
Genomics 55 : 43-48. 1 January 1999

Genomics Data

Transcriptional profiling of regenerating embryonic mouse hearts.
Magarin, M., Schulz, H., Thierfelder, L. and Drenckhahn, J.D.
Genomics Data 9 : 145-147. September 2016

Heart & Lung

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.
Keller, H., Finsterer, J., Steger, C., Wexberg, P., Gatterer, E., Khazen, C., Stix, G., Gerull, B., Hoeftberger, R. and Weidinger, F.
Heart & Lung 41 (4): 382-386. July 2012

Heart Failure Clinics

Arrhythmogenic right ventricular cardiomyopathy.
Ellinor, P.T., Macrae, C.A. and Thierfelder, L.
Heart Failure Clinics 6 (2): 161-177. April 2010

Herz

Left ventricular geometry, myocardial function and energetics of the dilated left ventricle. Influence of vasodilators and positive inotropic substances.
Holubarsch, C., Hasenfuss, G., Thierfelder, L. and Just, H.
Herz 16 : 298-303. 1 January 1991

Human Heredity

Statistical considerations for genome-wide scans: design and application of a novel software package POLYMORPHISM.
Niu, T., Struk, B. and Lindpaintner, K.
Human Heredity 52 (2): 102-109. July 2001

Human Molecular Genetics

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
Struk, B., Neldner, K.H., Rao, V.S., Stjean, P. and Lindpaintner, K.
Human Molecular Genetics 6 (11): 1823-1828. October 1997

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.
Watkins, H., MacRae, C., Thierfelder, L.H., McKenna, W.J., Seidman, C.E. and Seidman, J.G.
Human Molecular Genetics 2 : 1084-1084. 1 January 1993

Human Mutation

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
Gerull, B., Osterziel, K.J., Witt, C., Dietz, R. and Thierfelder, L.
Human Mutation 11 : 179-182. 1 January 1998

Hypertension

Growth arrest specific protein 6 participates in DOCA-induced target-organ damage.
Park, J.K., Theuer, S., Kirsch, T., Lindschau, C., Klinge, U., Heuser, A., Plehm, R., Todiras, M., Carmeliet, P., Haller, H., Luft, F.C., Mueller, D.N. and Fiebeler, A.
Hypertension 54 (2): 359-364. August 2009

Role of the multidomain protein spinophilin in blood pressure and cardiac function regulation.
da Costa-Goncalves, A.C., Tank, J., Plehm, R., Diedrich, A., Todiras, M., Gollasch, M., Heuser, A., Wellner, M., Bader, M., Jordan, J., Luft, F.C. and Gross, V.
Hypertension 52 (4): 702-707. October 2008

Dietary n-3 polyunsaturated fatty acids and direct renin inhibition improve electrical remodeling in a model of high human renin hypertension.
Fischer, R., Dechend, R., Qadri, F., Markovic, M., Feldt, S., Herse, F., Park, J.K., Gapelyuk, A., Schwarz, I., Zacharzowsky, U.B., Plehm, R., Safak, E., Heuser, A., Schirdewan, A., Luft, F.C., Schunck, W.H. and Mueller, D.N.
Hypertension 51 (2): 540-546. February 2008

ACE D/I polymorphism and incidence of post-PTCA restenosis - A prospective, angiography-based evaluation.
Zee, R.Y.L., Fernandez-Ortiz, A., Macaya, C., Pintor, E., Lindpaintner, K. and Fernandez-Cruz, A.
Hypertension 37 (3): 851-855. 1 January 2001

Role of the alpha, beta, and gamma subunits of epithelial sodium channel in a model of polygenic hypertension.
Kreutz, R., Struk, B., Rubattu, S., Hübner, N., Szpirer, J., Szpirer, C., Ganten, D. and Lindpaintner, K.
Hypertension 29 : 131-136. 1 January 1997

The Y chromosome. Epistatic and ecogenetic interactions in genetic hypertension.
Kreutz, R., Stock, P., Struk, B. and Lindpaintner, K.
Hypertension 28 : 895-897. 1 November 1996

Infrared and Raman Spectroscopic Imaging

3-D Imaging of Biomedical Samples.
Mcnaughton, D., Wood, B.R., Cox, T.C., Drenckhahn, J.D. and Bambery, K.R.
In: Infrared and Raman Spectroscopic Imaging. Wiley-VCH, 203-221. ISBN 9783527319930 15 April 2009

International Journal of Cardiology

Titin mutation in familial restrictive cardiomyopathy.
Peled, Y., Gramlich, M., Yoskovitz, G., Feinberg, M.S., Afek, A., Polak-Charcon, S., Pras, E., Sela, B.A., Konen, E., Weissbrod, O., Geiger, D., Gordon, P.M.K., Thierfelder, L., Freimark, D., Gerull, B. and Arad, M.
International Journal of Cardiology 171 (1): 24-30. 15 January 2014

Assessment of the effect of external counterpulsation on myocardial adaptive arteriogenesis by invasive functional measurements--design of the arteriogenesis network trial 2.
Pagonas, N., Utz, W., Schulz-Menger, J., Busjahn, A., Monti, J., Thierfelder, L., Dietz, R., Klauss, V., Gross, M., Buschmann, I.R. and Buschmann, E.E.
International Journal of Cardiology 145 (3): 432-437. 3 December 2010

Heart failure in arrhythmogenic right ventricular dysplasia-cardiomyopathy.
Peters, S., Peters, H. and Thierfelder, L.
International Journal of Cardiology 71 : 251-256. 1 December 1999

Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy.
Peters, S., Peters, H. and Thierfelder, L.
International Journal of Cardiology 71 (3): 243-250. 1 December 1999

Journal of Biological Chemistry

Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C.
Witt, C.C., Gerull, B., Davies, M.J., Centner, T., Linke, W.A. and Thierfelder, L.
Journal of Biological Chemistry 276 (7): 5353-5359. 1 January 2001

Journal of Cardiovascular Pharmacology

The effect of the partial beta-1-adrenoceptor agonist xamoterol on hemodynamics and myocardial energetics in patients with idiopathic dilated cardiomyopathy.
Thierfelder, L., Holubarsch, C., Hasenfuss, G., Heiss, H.W. and Just, H.
Journal of Cardiovascular Pharmacology 17 : 593-599. 1 April 1991

Journal of Cerebral Blood Flow and Metabolism

Oral administration of a novel lipophilic PPARδ agonist is not neuroprotective after rodent cerebral ischemia.
Knauss, S., Endres, M., Blaschke, F., Hindinger, C. and Kunz, A.
Journal of Cerebral Blood Flow and Metabolism 38 (1): 174-185. 1 January 2018

Journal of Clinical Investigation

Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism.
MacRae, C.A., Birchmeier, W. and Thierfelder, L.
Journal of Clinical Investigation 116 (7): 1825-1828. July 2006

Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
MacRae, C.A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C.T., Watkins, H.C., Anan, R., Thierfelder, L.H., McGarry, K., Rowland, E., McKenna, W.J., Seidman, J.G. and Seidman, C.E.
Journal of Clinical Investigation 96 (3): 1216-1220. September 1995

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
Anan, R., Greve, G., Thierfelder, L.H., Watkins, H., McKenna, W.J., Solomon, S., Vecchio, C., Shono, H., Nakao, S. and Tanaka, H.
Journal of Clinical Investigation 93 (1): 280-285. January 1994

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
Watkins, H., Thierfelder, L., Hwang, D.S., McKenna, W., Seidman, J.G. and Seidman, C.E.
Journal of Clinical Investigation 90 (5): 1666-1671. November 1992

Journal of Developmental Origins of Health and Disease

Preserved heart function after left ventricular pressure overload in adult mice subjected to neonatal cardiac hypoplasia.
Heinecke, K., Heuser, A., Blaschke, F., Jux, C., Thierfelder, L. and Drenckhahn, J.D.
Journal of Developmental Origins of Health and Disease 9 (1): 112-124. February 2018

Journal of Immunology

Inhibition of protein geranylgeranylation specifically interferes with CD40-dependent B cell activation, resulting in a reduced capacity to induce T cell immunity.
Shimabukuro-Vornhagen, A., Zoghi, S., Liebig, T.M., Wennhold, K., Chemitz, J., Draube, A., Kochanek, M., Blaschke, F., Pallasch, C., Holtick, U., Scheid, C., Theurich, S., Hallek, M. and von Bergwelt-Baildon, M.S.
Journal of Immunology 193 (10): 5294-5305. 15 November 2014

Journal of Molecular Medicine

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
Gerull, B., Atherton, J., Geupel, A., Sasse-Klaassen, S., Heuser, A., Frenneaux, M., McNabb, M., Granzier, H., Labeit, S. and Thierfelder, L.
Journal of Molecular Medicine 84 (6): 478-483. June 2006

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Cai, L., Lumsden, A., Guenther, U.P., Neldner, S.A., Zaech, S., Knoblauch, H., Ramesar, R., Hohl, D., Callen, D.F., Neldner, K.H., Lindpaintner, K., Richards, R.I. and Struk, B.
Journal of Molecular Medicine 79 (9): 536-546. 1 January 2001

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.
Cai, L., Struk, B., Adams, M.D., Ji, W., Haaf, T., Kang, H.L., Dho, S.H., Xu, X.Q., Ringpfeil, F., Nancarrow, J., Zaech, S., Schaen, L., Stumm, M., Niu, T.H., Chung, J., Lunze, K., Verrecchia, B., Goldsmith, L.A., Viljoen, D., Figuera, L.E., Fuchs, W., Lebwohl, M., Uitto, J., Richards, R., Hohl, D., Ramesar, R., Callen, D.F., Kim, U.J., Doggett, N.A., Neldner, K.H. and Lindpaintner, K.
Journal of Molecular Medicine 78 (1): 36-46. 1 January 2000

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
Struk, B., Cai, L., Zaech, S., Chung, W.J.J., Lumsden, A., Stumm, M., Huber, M., Schaen, L., Kim, C.A., Goldsmith, L.A., Viljoen, D., Figuera, L.E., Fuchs, W., Munier, F., Ramesar, R., Hohl, D., Richards, R., Neldner, K.H. and Lindpaintner, K.
Journal of Molecular Medicine 78 (5): 282-286. 1 January 2000

Journal of Molecular and Cellular Cardiology

Embryonic cardiomyocytes can orchestrate various cell protective mechanisms to survive mitochondrial stress.
Magarin, M., Pohl, T., Lill, A., Schulz, H., Blaschke, F., Heuser, A., Thierfelder, L., Donath, S. and Drenckhahn, J.D.
Journal of Molecular and Cellular Cardiology 97 : 1-14. August 2016

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
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. and Gerull, B.
Journal of Molecular and Cellular Cardiology 47 (3): 352-358. September 2009

Journal of Orthopaedic Research

Interface membrane fibroblasts around aseptically loosened endoprostheses express MMP-13.
Wagner, S., Gollwitzer, H., Wernicke, D., Langer, R., Siebenrock, K.A. and Hofstetter, W.
Journal of Orthopaedic Research 26 (2): 143-152. February 2008

Journal of Rheumatology

Color doppler ultrasonography of hand and finger arteries to differentiate primary from secondary forms of Raynaud's phenomenon.
Schmidt, W.A., Krause, A., Schicke, B. and Wernicke, D.
Journal of Rheumatology 35 (8): 1591-1598. August 2008

Ultrasonography of salivary glands - a highly specific imaging procedure for diagnosis of Sjoegren's syndrome.
Wernicke, D., Hess, H., Gromnica-Ihle, E., Krause, A. and Schmidt, W.A.
Journal of Rheumatology 35 (2): 285-293. February 2008

Journal of the American College of Cardiology

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
Ellinor, P.T., Sasse-Klaassen, S., Probst, S., Gerull, B., Shin, J.T., Toeppel, A., Heuser, A., Michely, B., Yoerger, D.M., Song, B.S., Pilz, B., Krings, G., Coplin, B., Lange, P.E., Dec, G.W., Hennies, H.C., Thierfelder, L. and MacRae, C.A.
Journal of the American College of Cardiology 48 (1): 106-111. 4 July 2006

The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5).
Hodgkinson, K.A., Parfrey, P.S., Bassett, A.S., Kupprion, C., Drenckhahn, J., Norman, M.W., Thierfelder, L., Stuckless, S.N., Dicks, E.L., McKenna, W.J. and Connors, S.P.
Journal of the American College of Cardiology 45 (3): 400-408. 1 January 2005

Clinical features of hypertrophic cardiomyopathy caused by mutation of a hot spot in the alpha tropomyosin gene.
Coviello, D.A., Maron, B.J., Spirito, P., Watkins, H., Vosberg, H.P., Thierfelder, L.H., Schoen, F.J., Seidman, J.G. and Seidman, C.E.
Journal of the American College of Cardiology 29 (3): 635-640. 1 March 1997

Journal of the American Heart Association

Prenatal mechanistic target of rapamycin complex 1 (mTORC1) inhibition by rapamycin treatment of pregnant mice causes intrauterine growth restriction and alters postnatal cardiac growth, morphology, and function.
Hennig, M., Fiedler, S., Jux, C., Thierfelder, L. and Drenckhahn, J.D.
Journal of the American Heart Association 6 (8): e005506. 4 August 2017

Medizinische Genetik

Die Genetik der arrhythmogenen rechtsventrikularen Kardiomyopathie [Genetics of arrhythmogenic right ventricular cardiomyopathy].
Thierfelder, L.
Medizinische Genetik 11 (2): 267-270. 1999

Nature Genetics

Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.
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, S.M., Lindpaintner, K., Hammock, B.D., Rohde, K., Dietz, R., Cook, S.A., Schunck, W.H., Luft, F.C. and Huebner, N.
Nature Genetics 40 (5): 529-537. May 2008

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A., Peters, S., Grossmann, K.S., Drenckhahn, J., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36 (11): 1162-1164. November 2004

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B., Gramlich, M., Atherton, J., McNabb, M., Trombitas, K., Sasse-Klaassen, S., Seidman, J.G., Seidman, C., Granzier, H., Labeit, S., Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002

Mutations in the cardiac myosin binding protein-c gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Watkins, H., Conner, D., Thierfelder, L.H., Jarcho, J.A., MacRae, C., McKenna, W.J., Maron, B.J., Seidman, J.G. and Seidman, C.E.
Nature Genetics 11 (4): 434-437. 1 December 1995

A disease locus for familiar hypertrophic cardiomyopathy maps to chromosome 1q3.
Watkins, H., MacRae, C., Thierfelder, L.H., Chou, Y., Frenneaux, M., McKenna, W., Seidman, J.G. and Seidman, C.E.
Nature Genetics 3 : 333-336. 1 January 1993

Nature Medicine

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo, W., Schafer, S., Greaser, M.L., Radke, M.H., Liss, M., Govindarajan, T., Maatz, H., Schulz, H., Lincoln, S.E., Parrish, A.M., Dauksaite, V., Vakeel, P., Klaassen, S., Gerull, B., Thierfelder, L., Regitz-Zagrosek, V., Hacker, T.A., Saupe, K.W., Dec, G.W., Ellinor, P.T., MacRae, C.A., Spallek, B., Fischer, R., Perrot, A., Ozcelik, C., Saar, K., Hubner, N. and Gotthardt, M.
Nature Medicine 18 (5): 766-773. May 2012

Nephrology Dialysis Transplantation

Coiled-coiled domains as a mechanism to stop haemorrhage after renal biopsies.
Pilz, B., Kettritz, R., Bieringer, M. and Luft, F.C.
Nephrology Dialysis Transplantation 23 (8): 2688-2689. August 2008

New England Journal of Medicine

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
Niimura, H., Bachinski, L.L., Sangwatanaroj, S., Watkins, H., Chudley, A.E., McKenna, W., Kristinsson, A., Roberts, R., Sole, M., Maron, B.J., Seidman, J.G. and Seidman, C.E.
New England Journal of Medicine 338 (18): 1248-1257. 30 April 1998

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
Watkins, H., McKenna, W.J., Thierfelder, L.H., Suk, H.J., Anan, R., Odonoghue, A., Spirito, P., Matsumori, A., Moravec, C.S., Seidman, J.G. and Seidman, C.E.
New England Journal of Medicine 332 (16): 1058-1064. 20 April 1995

PLoS ONE

alpha(1A)-adrenergic receptor-directed autoimmunity induces left ventricular damage and diastolic dysfunction in rats.
Wenzel, K., Wallukat, G., Qadri, F., Huebner, N., Schulz, H., Hummel, O., Herse, F., Heuser, A., Fischer, R., Heidecke, H., Luft, F.C., Mueller, D.N., Dietz, R. and Dechend, R.
PLoS ONE 5 (2): e9409. 24 February 2010

Pharmacopsychiatry

Torsade de pointes during combined treatment with risperidone and citalopram.
Blaschke, D., Parwani, A.S., Huemer, M., Rolf, S., Boldt, L.H., Dietz, R. and Haverkamp, W.
Pharmacopsychiatry 40 (6): 294-295. November 2007

Placenta

Changes in endovascular trophoblast invasion and spiral artery remodelling at term in a transgenic preeclamptic rat model.
Geusens, N., Hering, L., Verlohren, S., Luyten, C., Drijkoningen, K., Taube, M., Vercruysse, L., Hanssens, M., Dechend, R. and Pijnenborg, R.
Placenta 31 (4): 320-326. April 2010

Proceedings of the National Academy of Sciences of the United States of America

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
Thierfelder, L.H., MacRae, C., Watkins, H., Tomfohrde, J., Williams, M., McKenna, W., Bohm, K., Noeske, G., Schlepper, M. and Bowcock, A.
Proceedings of the National Academy of Sciences of the United States of America 90 (13): 6270-6274. 1 July 1993

Schweizerische Rundschau fuer Medizin Praxis

Armschwellung und lokale Hautreaktion nach Di-Te-Impfung: 2 Fallbeispiele [Arm swelling and local skin reaction after Di-Te vaccination. 2 case reports].
Thierfelder, C. and Flueckiger, U.
Schweizerische Rundschau fuer Medizin Praxis 93 (46): 1929-1931. 10 November 2004

Scientific Reports

Dietary protein restriction throughout intrauterine and postnatal life results in potentially beneficial myocardial tissue remodeling in the adult mouse heart.
Hennig, M., Ewering, L., Pyschny, S., Shimoyama, S., Olecka, M., Ewald, D., Magarin, M., Uebing, A., Thierfelder, L., Jux, C. and Drenckhahn, J.D.
Scientific Reports 9 (1): 15126. 22 October 2019

Zeitschrift fuer Kardiologie

Genetik der dilatativen Kardiomyopathie.
Osterziel, K.J., Scheffold, T., Perrot, A. and Dietz, R.
Zeitschrift fuer Kardiologie 90 (7): 461-469. July 2001

Molekulargenetische Diagnostik in der Kardiologie.
Thierfelder, L.
Zeitschrift fuer Kardiologie 90 : 65-66. 1 January 2001

Genetische Aspekte der Arrhythmieentstehung.
Thierfelder, L.
Zeitschrift fuer Kardiologie 89 (Suppl. 3): 1-5. 1 January 2000

Genetisches Screening bei Kardiomyopathien.
Thierfelder, L.
Zeitschrift fuer Kardiologie 89 (7): 638-640. 1 January 2000

Vasodilatation und positive Inotropie des Phosphodiesterasehemmers Enoximon.
Holubarsch, C., Hasenfuss, G., Thierfelder, L., Heiss, H.W. and Just, H.
Zeitschrift fuer Kardiologie 80 Suppl 4 : 35-40. 1 January 1991

Zeitschrift fuer Rheumatologie

Assoziation zwischen dem histopathologischen Synovialitis-Typ II und einem erhoehten Pyridinolin-Gehalt im Synovialgewebe bei rheumatoider Arthritis [Association between histopathologic type II synovitis and increased amounts of pyridinoline in synovial tissue samples in rheumatoid arthritis].
Wernicke, D., Voigt, A., Mueller, A., Schmidt, W.A., Stiehl, P. and Hein, G.
Zeitschrift fuer Rheumatologie 67 (3): 225-231. May 2008