Associated Papers
Molecular basis for differential PIP2-mediated association between vinculin and its splice isoform metavinculin.
Khan MAI et al.
The Journal of Biological Chemistry, 2025
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
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
Vinculin and metavinculin exhibit distinct effects on focal adhesion properties, cell migration, and mechanotransduction.
Lee HT et al.
Plos One, 2019
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
Mechanisms and Functions of Vinculin Interactions with Phospholipids at Cell Adhesion Sites.
Izard T et al.
The Journal of Biological Chemistry, 2016
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Zhao Y et al.
Biomed Research International, 2015
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
Wang Y et al.
Plos One, 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
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N et al.
Circulation. Cardiovascular Genetics, 2012
A helix replacement mechanism directs metavinculin functions.
Rangarajan ES et al.
Plos One, 2010
Cell-cell connection to cardiac disease.
Sheikh F et al.
Trends in Cardiovascular Medicine, 2009
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
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