Metavinculin Mutations Alter Actin Interaction in Dilated Cardiomyopathy

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Fatkin, D., MacRae, C. A., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M. P., Atherton, J. J., Vidaillet, H. J., Jr., Spudich, S., Girolami, U. D., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199912023412302 · Cited by 1,366

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012073432304 · Cited by 720

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

Michels, V. V., Moll, P. P., Miller, F. A., Tajik, A. J., Chu, J. S., Driscoll, D. J. O., Burnett, J. C. J., Rodeheffer, R. J., Chesebro, J. H., & Tazelaar, H. D. (1992) · New England Journal of Medicine · doi:10.1056/nejm199201093260201 · Cited by 695

Echocardiographic measurements in normal subjects from infancy to old age.

Henry, W. L., Gardin, J. M., & Ware, J. H. (1980) · Circulation · doi:10.1161/01.cir.62.5.1054 · Cited by 632

Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure

Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., & Keating, M. T. (1998) · Science · doi:10.1126/science.280.5364.750 · Cited by 621

Vinculin knockout results in heart and brain defects during embryonic development

Xu, W., Baribault, H., & Adamson, E. D. (1998) · Development · doi:10.1242/dev.125.2.327 · Cited by 538

Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy

Li, D., Tapscoft, T., Gonzalez, O., Burch, P. E., Quiñones, M. A., Zoghbi, W. A., Hill, R., Bachinski, L. L., Mann, D. L., & Roberts, R. (1999) · Circulation · doi:10.1161/01.cir.100.5.461 · Cited by 445

Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy

Francesco Muntoni, A., Cau, M., Ganau, A., Congiu, R., Arvedi, G., Mateddu, A., Marrosu, M. G., Cianchetti, C., Realdi, G., Cao, A., et al. (1993) · New England Journal of Medicine · doi:10.1056/nejm199309233291304 · Cited by 412

Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

Tsubata, S., Bowles, K. R., Vatta, M., Zintz, C., Titus, J. L., Muhonen, L. E., Bowles, N. E., & Towbin, J. A. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9224 · Cited by 340

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

Brodsky, G. L., Francesco Muntoni, A., Miočiċ, S., Sinagra, G., Sewry, C. A., & Mestroni, L. (2000) · Circulation · doi:10.1161/01.cir.101.5.473 · Cited by 329

Genetics of Hypertrophic and Dilated Cardiomyopathy

Friedrich, F. W., & Carrier, L. (2012) · Current Pharmaceutical Biotechnology · doi:10.2174/1389201011208062467 · Cited by 43

The Mutations Associated with Dilated Cardiomyopathy

Parvari, R., & Levitas, A. (2012) · Biochemistry Research International · doi:10.1155/2012/639250 · Cited by 41

The intercalated disc: a mechanosensing signalling node in cardiomyopathy

Pruna, M., & Ehler, E. (2020) · Biophysical Reviews · doi:10.1007/s12551-020-00737-x · Cited by 46

Disruption of cardiac Ena-VASP protein localization in intercalated disks causes dilated cardiomyopathy

Eigenthaler, M., Engelhardt, S. H., Schinke, B., Kobsar, A. L., Schmitteckert, E. M., Gambaryan, S. P., Engelhardt, C. M., Krenn, V., Eliava, M., Jarchau, T., et al. (2003) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00362.2003 · Cited by 40

A Missense Mutation in the CHRM2 Gene Is Associated With Familial Dilated Cardiomyopathy

Zhang, L., Hu, A., Yuan, H., Cui, L. R., Miao, G., Yang, X., Wang, L., Liu, J., Liu, X., Wang, S., et al. (2008) · Circulation Research · doi:10.1161/circresaha.107.167783 · Cited by 39

Binding of Par-4 to the actin cytoskeleton is essential for Par-4/Dlk-mediated apoptosis

Vetterkind, S., Illenberger, S., Kubicek, J., Boosen, M., Appel, S., Naim, H. Y., Scheidtmann, K., & Preuß, U. (2005) · Experimental Cell Research · doi:10.1016/j.yexcr.2005.01.012 · Cited by 38

Vinculin and metavinculin: Oligomerization and interactions with F‐actin

Thompson, P. M., Tolbert, C. E., & Campbell, S. L. (2013) · FEBS Letters · doi:10.1016/j.febslet.2013.02.042 · Cited by 37

Vinculin and metavinculin exhibit distinct effects on focal adhesion properties, cell migration, and mechanotransduction

Lee, H. T., Sharek, L., O’Brien, E. T., Urbina, F., Gupton, S. L., Superfine, R., Burridge, K., & Campbell, S. L. (2019) · PLoS ONE · doi:10.1371/journal.pone.0221962 · Cited by 36

Metavinculin modulates force transduction in cell adhesion sites

Kanoldt, V., Kluger, C., Barz, C., Schweizer, A.-L., Ramanujam, D. P., Windgasse, L., Engelhardt, S. H., Chrostek‐Grashoff, A., & Grashoff, C. (2020) · Nature Communications · doi:10.1038/s41467-020-20125-z · Cited by 37

Understanding the molecular basis of cardiomyopathy

Bang, M., Bogomolovas, J., & Chen, J. (2021) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00562.2021 · Cited by 37

Vinculin regulation of F-actin bundle formation

Tolbert, C. E., Burridge, K., & Campbell, S. L. (2013) · Cell Adhesion & Migration · doi:10.4161/cam.23184 · Cited by 35

Contribution of Genetic Factors to the Pathogenesis of Dilated Cardiomyopathy - The Cause of Dilated Cardiomyopathy: Genetic or Acquired? (Genetic-Side) -

Kimura, A. (2011) · Circulation Journal · doi:10.1253/circj.cj-11-0368 · Cited by 35

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights

Ittisoponpisan, S., Alhuzimi, E. M., Sternberg, M. J. E., & David, A. (2016) · Human Mutation · doi:10.1002/humu.23155 · Cited by 35

Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

Callis, T. E., Jensen, B. C., Weck, K. E., & Willis, M. S. (2010) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.10.13 · Cited by 36

A Helix Replacement Mechanism Directs Metavinculin Functions

Rangarajan, E. S., Lee, J. H., Yogesha, S. D., & Izard, T. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010679 · Cited by 34

Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy

Shimizu, M., Ino, H., Yasuda, T., Fujino, N., Uchiyama, K., Mabuchi, T., Konno, T., Kaneda, T., Fujita, T., Masuta, E., et al. (2005) · Circulation Journal · doi:10.1253/circj.69.150 · Cited by 34

Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc

Vasile, V. C., Edwards, W. D., Ommen, S. R., & Ackerman, M. J. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.08.106 · Cited by 33

Dilated Cardiomyopathy: From Genetics to Clinical Management

(2019) · doi:10.1007/978-3-030-13864-6 · Cited by 32

Genetics of inherited cardiomyopathies

Bowles, K. R., & Bowles, N. E. (2004) · Expert Review of Cardiovascular Therapy · doi:10.1586/14779072.2.5.683 · Cited by 32

Cardiomyopathy Classification: Ongoing Debate in the Genomics Era

McCartan, C., Mason, R., Jayasinghe, S. R., & Griffiths, L. R. (2012) · Biochemistry Research International · doi:10.1155/2012/796926 · Cited by 31

Two novel mutations in the β-Myosin Heavy Chain Gene Associated with Dilated Cardiomyopathy

Kärkkäinen, S., Heliö, T. M., Jääskeläinen, P., Miettinen, R., Tuomainen, P. O., Ylitalo, K. V., Kaartinen, M., Reissell, E., Toivonen, L. K., Nieminen, M. S., et al. (2004) · European Journal of Heart Failure · doi:10.1016/j.ejheart.2004.04.017 · Cited by 31

Colchicine attenuates left ventricular hypertrophy but preserves cardiac function of aortic-constricted rats

Scopacasa, B. S., Teixeira, V. P. A., & Franchini, K. G. (2003) · Journal of Applied Physiology · doi:10.1152/japplphysiol.00744.2002 · Cited by 31

Evaluation of 15 Candidate Genes for Dilated Cardiomyopathy in the Newfoundland Dog

Wiersma, A. C., Stabej, P. L. Q., Leegwater, P. A. J., van Oost, B. A., Ollier, W., & Dukes‐McEwan, J. (2007) · Journal of Heredity · doi:10.1093/jhered/esm090 · Cited by 30

Lasp‐2 expression, localization, and ligand interactions: A new Z‐disc scaffolding protein

Zieseniß, A., Terasaki, A. G., & Gregorio, C. C. (2007) · Cell Motility and the Cytoskeleton · doi:10.1002/cm.20244 · Cited by 30

Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis

Malinow, I., Fong, D. C., Miyamoto, M., Badran, S., & Hong, C. C. (2024) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1404942 · Cited by 35

Cytoskeletal defects in cardiomyopathy

McNally, E. M. (2003) · Journal of Molecular and Cellular Cardiology · doi:10.1016/s0022-2828(03)00018-x · Cited by 29

Mutational analysis of the β‐ and δ‐sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy

Sylvius, N. B., Duboscq-Bidot, L., Bouchier, C., Charron, P., Benaiche, A., Sébillon, P., Michel Komajda, N., & Villard, E. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20003 · Cited by 28

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Tzschach, A., Bisgaard, A., Kirchhoff, M., Graul-Neumann, L. M., Neitzel, H., Page, S., Ahmed, A., Müller, I., Erdogan, F., Ropers, H., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.163 · Cited by 26

A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches

Sarohi, V., Srivastava, S., & Basak, T. (2022) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd9060174 · Cited by 26

The C-terminal tail domain of metavinculin, vinculin’s splice variant, severs actin filaments

Janssen, M. E. W., Liu, H., Volkmann, N., & Hanein, D. (2012) · The Journal of Cell Biology · doi:10.1083/jcb.201111046 · Cited by 24

Molecular mechanisms of heart failure: insights from Drosophila

Zhu, S., Han, Z., Luo, Y. H., Chen, Y., Zeng, Q., Wu, X., & Yuan, W. (2016) · Heart Failure Reviews · doi:10.1007/s10741-016-9590-3 · Cited by 26

Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Simpson, S., Rutland, P., & Rutland, C. S. (2017) · Veterinary Sciences · doi:10.3390/vetsci4010019 · Cited by 24

Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins

Bang, M. (2016) · Journal of Cellular Physiology · doi:10.1002/jcp.25424 · Cited by 23

Disarray of sarcomeric alpha-actinin in cardiomyocytes infected by Trypanosoma cruzi

de Melo, T. G., Almeida, D. D. S., Meirelles, M. N. S. L., & Pereira, M. C. D. S. (2006) · Parasitology · doi:10.1017/s0031182006000011 · Cited by 23

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy

Long, P. A., Larsen, B. T., Evans, J. M., & Olson, T. M. (2015) · Journal of the American Heart Association · doi:10.1161/jaha.115.002443 · Cited by 23

Cardiomyocyte-specific conditional knockout of the histone chaperone HIRA in mice results in hypertrophy, sarcolemmal damage and focal replacement fibrosis

Valenzuela, N., Fan, Q., Fa’ak, F., Soibam, B., Nagandla, H., Liu, Y., Schwartz, R. J., McConnell, B. K., & Stewart, M. D. (2016) · Disease Models & Mechanisms · doi:10.1242/dmm.022889 · Cited by 25

Differential lipid binding of vinculin isoforms promotes quasi-equivalent dimerization

Chinthalapudi, K., Rangarajan, E. S., Brown, D. T., & Izard, T. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1600702113 · Cited by 23

The interconnections between the microtubules and mitochondrial networks in cardiocerebrovascular diseases: Implications for therapy

Shi, X., Jiang, X. J., Chen, C., Zhang, Y., & Sun, X. (2022) · Pharmacological Research · doi:10.1016/j.phrs.2022.106452 · Cited by 22

Lipid-Directed Vinculin Dimerization

Chinthalapudi, K., Patil, D. N., Rangarajan, E. S., Rader, C. M., & Izard, T. (2015) · Biochemistry · doi:10.1021/acs.biochem.5b00015 · Cited by 22

Vinculin b deficiency causes epicardial hyperplasia and coronary vessel disorganization in zebrafish

Cheng, F., Miao, L., Wu, Q., Gong, X., Xiong, J., & Zhang, J. (2016) · Development · doi:10.1242/dev.132936 · Cited by 22

Right ventricular hypertrophy with early dysfunction: A proteomics study in a neonatal model

Sheikh, A. M., Barrett, C., Villamizar, N. R., Álzate, Ó., Valente, A. M., Herlong, J. R., Craig, D. M., Lodge, A. W., Lawson, J., Milano, C. A., et al. (2009) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2008.09.013 · Cited by 22

Cardiac-specific deletion of the microtubule-binding protein CENP-F causes dilated cardiomyopathy

Dees, E., Miller, P. M., Moynihan, K. L., Pooley, R. D., Hunt, R. P., Galindo, C. L., Rottman, J. N., & Bader, D. M. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.008680 · Cited by 21

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3

Kuhl, A., Melberg, A., Meinl, E., Nürnberg, G., Nürnberg, P., Kehrer‐Sawatzki, H., & Jenne, D. E. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201980 · Cited by 20

Disorganization of intercalated discs in dilated cardiomyopathy

Ito, Y., Yoshida, M., Masuda, H., Maeda, D., Kudo‐Asabe, Y., Umakoshi, M., Nanjo, H., & Goto, A. (2021) · Scientific Reports · doi:10.1038/s41598-021-90502-1 · Cited by 21

Loss of CENP-F Results in Dilated Cardiomyopathy with Severe Disruption of Cardiac Myocyte Architecture

Manalo, A. E., Roest, A. S. V., Fenix, A. M., Shancer, Z., Coogan, J., Brolsma, T., Burnette, D. T., Merryman, W. D., & Bader, D. M. (2018) · Scientific Reports · doi:10.1038/s41598-018-25774-1 · Cited by 19

Molecular genetics of sudden cardiac death in small animals – A review

Hyun, C., & Filippich, L. J. (2005) · The Veterinary Journal · doi:10.1016/j.tvjl.2004.10.022 · Cited by 20

Genome-Wide Dynamics of Nascent Noncoding RNA Transcription in Porcine Heart After Myocardial Infarction

Kaikkonen, M. U., Halonen, P. J., Liu, O. H.-F., Turunen, T. A., Pajula, J. J., Moreau, P. R., Selvarajan, I., Tuomainen, T., Aavik, E., Tavi, P., et al. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.117.001702 · Cited by 19

SIRT1 activation and its effect on intercalated disc proteins as a way to reduce doxorubicin cardiotoxicity

Podyacheva, E., & Toropova, Y. G. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.1035387 · Cited by 19

Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant

Wells, Q. S., Ausborn, N. L., Funke, B., Pfotenhauer, J. P., Fredi, J. L., Baxter, S., DiSalvo, T. G., & Hong, C. C. (2011) · Cardiogenetics · doi:10.4081/cardiogenetics.2011.e10 · Cited by 19

S-Nitrosylation Proteome Profile of Peripheral Blood Mononuclear Cells in Human Heart Failure

Koo, S.-J., Spratt, H. M., Soman, K. V., Stafford, S. J., Gupta, S., Petersen, J. R., Zago, M. P., Kuyumcu‐Martinez, M. N., Brasier, A. R., Wiktorowicz, J. E., et al. (2016) · International Journal of Proteomics · doi:10.1155/2016/1384523 · Cited by 19

Screening of Three Novel Candidate Genes in Arrhythmogenic Right Ventricular Cardiomyopathy

Christensen, A. H., Benn, M., Tybjærg‐Hansen, A., Haunsø, S., & Svendsen, J. H. (2011) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2010.0151 · Cited by 19

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Hawley, M. H., Almontashiri, N. A. M., Biesecker, L. G., Berger, N., Chung, W. K., Garcia, J., Grebe, T. A., Kelly, M., Lebo, M. S., Macaya, D., et al. (2020) · Human Mutation · doi:10.1002/humu.24061 · Cited by 18

Molecular diagnosis of myocardial disease

Towbin, J. A., & Bowles, N. E. (2002) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2.6.587 · Cited by 18

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Campuzano, Ó., Alcalde, M., Berne, P., Castro‐Urda, V., Guzzo-Merello, G., Iglesias, A., Alonso‐Pulpón, L., García‐Pavía, P., Brugada, J., & Brugada, R. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.02.007 · Cited by 17

Cardiomyopathy Mutations in Metavinculin Disrupt Regulation of Vinculin-Induced F-Actin Assemblies

Sarker, M., Lee, H. T., Mei, L., Krokhotin, A., Reyes, S. E. D. L., Yen, L. Y., Costantini, L. M., Griffith, J. D., Dokholyan, N. V., Alushin, G. M., et al. (2019) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.02.024 · Cited by 16

Metavinculin Tunes the Flexibility and the Architecture of Vinculin-Induced Bundles of Actin Filaments

Durer, Z. A. O., McGillivary, R. M., Kang, H., Elam, W. A., Vizcarra, C. L., Hanein, D., Cruz, E. M. D. L., Reisler, E., & Quinlan, M. E. (2015) · Journal of Molecular Biology · doi:10.1016/j.jmb.2015.07.005 · Cited by 16

Molecular etiology of idiopathic cardiomyopathy.

Arimura, T., Hayashi, T., & Kimura, A. (2007) · Europe PMC (PubMed Central) · Cited by 15

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

Yang, Q., Berkman, A. M., Ezekian, J. E., Rosamilia, M. B., Rosenfeld, J. A., Liu, P., & Landstrom, A. P. (2022) · Journal of the American Heart Association · doi:10.1161/jaha.122.025257 · Cited by 14

Left Bundle Branch Area Pacing With or Without Conduction System Capture in Heart Failure Models

Cheng, S., Li, H., Hu, Y., Han, J., Weng, S., He, P., Huang, H., Liu, X., Gu, M., Niu, H., et al. (2024) · JACC. Clinical electrophysiology · doi:10.1016/j.jacep.2024.05.007 · Cited by 14

An Alternative Mechanism of Subcellular Iron Uptake Deficiency in Cardiomyocytes

Dai, Y., Ignatyeva, N., Xu, H., Wali, R., Toischer, K., Brandenburg, S., Lenz, C., Pronto, J. R. D., Fakuade, F. E., Sossalla, S. T., et al. (2023) · Circulation Research · doi:10.1161/circresaha.122.321157 · Cited by 13

Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies

Asatryan, B., & Medeiros‐Domingo, A. (2018) · Journal of Molecular Medicine · doi:10.1007/s00109-018-1685-y · Cited by 12

Imaging Phenotype vs Genotype in Nonhypertrophic Heritable Cardiomyopathies

Raman, S. V., Basso, C., Tandri, H. S., & Taylor, M. R. G. (2010) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.110.957563 · Cited by 13

HFSA 2010 Guideline Executive Summary Executive Summary: HFSA 2010 Comprehensive Heart Failure Practice Guideline

Albert, N. M., Moser, D. K., BOEHMER, J. P., Rogers, J. G., Collins, S. P., Starling, R. C., Ezekowitz, J. A., Stevenson, W. G., Givertz, M. M., Tang, W. H. W., et al. (2010) · Cited by 13

ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster

Migunova, E., Theophilopoulos, J., Mercadante, M. N., Men, J., Zhou, C., & Dubrovsky, E. B. (2021) · Disease Models & Mechanisms · doi:10.1242/dmm.048931 · Cited by 12

RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs

Krishnamoorthy, G. P., Glover, A. R., Untch, B. R., Sigcha‐Coello, N., Xu, B., Vukel, D., Liu, Y., Tiedje, V., Pineda, J. M. B., Berman, K., et al. (2025) · The Journal of Experimental Medicine · doi:10.1084/jem.20241029 · Cited by 11

Metavinculin: New insights into functional properties of a muscle adhesion protein

Thoss, F., Dietrich, F., Punkt, K., Illenberger, S., Rottner, K., Himmel, M., & Ziegler, W. H. (2012) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2012.11.013 · Cited by 11

Genetics of Dilated Cardiomyopathy: Current Knowledge and Future Perspectives

Ferro, M. D., Severini, G. M., Gigli, M., Mestroni, L., & Sinagra, G. (2019) · Springer eBooks · doi:10.1007/978-3-030-13864-6_5 · Cited by 12

Genetics of familial dilated cardiomyopathy

Menon, S. C., Olson, T. M., & Michels, V. V. (2008) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2007.11.013 · Cited by 11

Canine candidate genes for dilated cardiomyopathy: annotation of and polymorphic markers for 14 genes

Wiersma, A. C., Leegwater, P. A. J., van Oost, B. A., Ollier, W., & Dukes‐McEwan, J. (2007) · BMC Veterinary Research · doi:10.1186/1746-6148-3-28 · Cited by 11

Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.

Bilińska, Z. T., Sylvius, N. B., Grzybowski, J., Fidziańska, A., Michalak, E., Walczak, E., Walski, M., Bieganowska, K. D., Szymaniak, E., Kuśmierczyk‐Droszcz, B., et al. (2006) · PubMed · Cited by 11

From the Nucleus Toward the Cell Periphery: a Guided Tour for mRNAs

Jockusch, B. M., Hüttelmaier, S., & Illenberger, S. (2003) · Physiology · doi:10.1152/nips.01413.2002 · Cited by 11

BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms

Mueller, S. C., Backes, C., Kalinina, O. V., Meder, B., Stöckel, D., Lenhof, H., Meese, E. U., & Keller, A. (2015) · Genome Medicine · doi:10.1186/s13073-015-0190-y · Cited by 10

An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population

Cheng, J.-D., Kyle, J. W., Lang, D., Wiedmeyer, B., Guo, J., Yin, K., Huang, L., Vaidyanathan, R., Su, T., & Makielski, J. C. (2017) · Journal of the American Heart Association · doi:10.1161/jaha.116.005330 · Cited by 10

Dilated Cardiomyopathy

Cowan, J. R., van Spaendonck‐Zwarts, K. Y., & Hershberger, R. E. (2020) · Springer eBooks · doi:10.1007/978-3-030-45457-9_5 · Cited by 10

A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1

Schönberger, J., Kühler, L., Martins, E., Lindner, T. H., Silva‐Cardoso, J., & Zimmer, M. (2005) · Human Genetics · doi:10.1007/s00439-005-0064-2 · Cited by 10

The challenge of cardiomyopathies in 2007

Sinagra, G., Lenarda, A. D., Moretti, M., Mestroni, L., Pinamonti, B., Perkan, A., Salvi, A., Pyxaras, S. A., Bussani, R., Silvestri, F., et al. (2008) · Journal of Cardiovascular Medicine · doi:10.2459/jcm.0b013e3282f2c9f9 · Cited by 10

Molecular Etiology of Idiopathic Cardiomyopathy

Kimura, A., Hayashil, T., Itoh-Satohl, M., Arimura, T., Lee, W., Lee, S. Y., & Park, J.-E. (2003) · Developments in cardiovascular medicine · doi:10.1007/978-1-4419-9264-2_31 · Cited by 9

MiR-6721-5p as a natural regulator of Meta-VCL is upregulated in the serum of patients with coronary artery disease

Gholipour, A., Zahedmehr, A., Arabian, M., Shakerian, F., Maleki, M., Oveisee, M., & Malakootian, M. (2024) · Non-coding RNA Research · doi:10.1016/j.ncrna.2024.08.006 · Cited by 8

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