Associated Papers
Insights into the solution structure of the actin-binding tail domain of metavinculin by small angle X-ray scattering and molecular dynamics simulations.
Oztug Durer ZA et al.
International Journal of Biological Macromolecules, 2025
Molecular basis for differential PIP2-mediated association between vinculin and its splice isoform metavinculin.
Khan MAI et al.
The Journal of Biological Chemistry, 2025
Case Report: Integrated echocardiographic assessment guided Liwen procedure for treating obstructive hypertrophic cardiomyopathy with ventricular aneurysm.
Zhang R et al.
Frontiers in Cardiovascular Medicine, 2023
Distinct Binding Modes of Vinculin Isoforms Underlie Their Functional Differences.
Krokhotin A et al.
Structure (london, England : 1993), 2019
Cardiomyopathy Mutations in Metavinculin Disrupt Regulation of Vinculin-Induced F-Actin Assemblies.
Sarker M et al.
Journal of Molecular Biology, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.
Cheng J et al.
Journal of the American Heart Association, 2017
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.
Ittisoponpisan S et al.
Human Mutation, 2017
Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.
Cheng J et al.
Scientific Reports, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Bang ML
Journal of Cellular Physiology, 2017
Differential lipid binding of vinculin isoforms promotes quasi-equivalent dimerization.
Chinthalapudi K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Mechanisms and Functions of Vinculin Interactions with Phospholipids at Cell Adhesion Sites.
Izard T et al.
The Journal of Biological Chemistry, 2016
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Pugh TJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Vinculin directly binds zonula occludens-1 and is essential for stabilizing connexin-43-containing gap junctions in cardiac myocytes.
Zemljic-Harpf AE et al.
Journal of Cell Science, 2014
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Metavinculin: New insights into functional properties of a muscle adhesion protein.
Thoss F et al.
Biochemical and Biophysical Research Communications, 2013
The metavinculin tail domain directs constitutive interactions with raver1 and vinculin RNA.
Lee JH et al.
Journal of Molecular Biology, 2012
The C-terminal tail domain of metavinculin, vinculin's splice variant, severs actin filaments.
Janssen ME et al.
The Journal of Cell Biology, 2012
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Wells QS et al.
Cardiogenetics, 2011
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study.
Melton PE et al.
Human Molecular Genetics, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
A helix replacement mechanism directs metavinculin functions.
Rangarajan ES et al.
Plos One, 2010
Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population.
Boda U et al.
Journal of Genetics, 2009
Cell-cell connection to cardiac disease.
Sheikh F et al.
Trends in Cardiovascular Medicine, 2009
Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?
Bos JM et al.
Current Opinion in Cardiology, 2007
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
Theis JL et al.
Biochemical and Biophysical Research Communications, 2006
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
Vasile VC et al.
Biochemical and Biophysical Research Communications, 2006
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.
Vasile VC et al.
Molecular Genetics and Metabolism, 2006
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005
Heterozygous inactivation of the vinculin gene predisposes to stress-induced cardiomyopathy.
Zemljic-Harpf AE et al.
The American Journal of Pathology, 2004
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Kärkkäinen S et al.
Journal of Molecular Medicine (berlin, Germany), 2003
Molecular diagnosis of myocardial disease.
Towbin JA et al.
Expert Review of Molecular Diagnostics, 2002
Molecular mechanisms of inherited cardiomyopathies.
Fatkin D et al.
Physiological Reviews, 2002
Dilated cardiomyopathy: a genetically heterogeneous disease.
Shaw T et al.
Lancet (london, England), 2002
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
Olson TM et al.
Circulation, 2002