A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.

[1]  Michael J Ackerman,et al.  Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. , 2006, Molecular genetics and metabolism.

[2]  W. Edwards,et al.  Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. , 2006, Molecular genetics and metabolism.

[3]  A. Tajik,et al.  Sarcomeric genotyping in hypertrophic cardiomyopathy. , 2005, Mayo Clinic proceedings.

[4]  J. Seidman,et al.  Glycogen storage diseases presenting as hypertrophic cardiomyopathy. , 2005, The New England journal of medicine.

[5]  Barry J Maron,et al.  Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[6]  A. Tajik,et al.  Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[7]  N. Dalton,et al.  Animal Model Heterozygous Inactivation of the Vinculin Gene Predisposes to Stress-Induced Cardiomyopathy , 2004 .

[8]  A. Tajik,et al.  Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. , 2004, Journal of the American College of Cardiology.

[9]  Gerard Bricogne,et al.  Crystal structure of human vinculin. , 2004, Structure.

[10]  Erik G. Ellsworth,et al.  Prevalence and Spectrum of Thin Filament Mutations in an Outpatient Referral Population With Hypertrophic Cardiomyopathy , 2003, Circulation.

[11]  Christine E Seidman,et al.  Phenotypic diversity in hypertrophic cardiomyopathy. , 2002, Human molecular genetics.

[12]  S. Dimauro,et al.  Clinicopathological features of genetically confirmed Danon disease , 2002, Neurology.

[13]  P. Elliott,et al.  Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy , 2002, Circulation.

[14]  B. Maron Hypertrophic cardiomyopathy: a systematic review. , 2002, JAMA.

[15]  M. Keating,et al.  Metavinculin Mutations Alter Actin Interaction in Dilated Cardiomyopathy , 2002, Circulation.

[16]  L. Fananapazir,et al.  Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. , 2001, The New England journal of medicine.

[17]  H. Watkins,et al.  Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. , 2001, Human molecular genetics.

[18]  S. Dimauro,et al.  Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) , 2000, Nature.

[19]  A. Vulto,et al.  Recombinant human α-glucosidase from rabbit milk in Pompe patients , 2000, The Lancet.

[20]  C. Schwienbacher,et al.  Differential actin organization by vinculin isoforms: implications for cell type‐specific microfilament anchorage , 1998, FEBS letters.

[21]  E. Adamson,et al.  Vinculin knockout results in heart and brain defects during embryonic development. , 1998, Development.

[22]  T. Borg,et al.  Mechanical forces regulate focal adhesion and costamere assembly in cardiac myocytes. , 1997, The American journal of physiology.

[23]  J. Gardin,et al.  Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. , 1995, Circulation.

[24]  H. Sakuraba,et al.  An atypical variant of Fabry's disease in men with left ventricular hypertrophy. , 1995, The New England journal of medicine.

[25]  V. Koteliansky,et al.  Organization of the human gene encoding the cytoskeletal protein vinculin and the sequence of the vinculin promoter. , 1993, The Journal of biological chemistry.

[26]  J. Small,et al.  An additional exon in the human vinculin gene specifically encodes meta-vinculin-specific difference peptide. Cross-species comparison reveals variable and conserved motifs in the meta-vinculin insert. , 1992, European journal of biochemistry.

[27]  O. Ornatsky,et al.  Immunolocalization of meta-vinculin in human smooth and cardiac muscles , 1988, The Journal of cell biology.

[28]  O. Ornatsky,et al.  Diversity of vinculin/meta-vinculin in human tissues and cultivated cells. Expression of muscle specific variants of vinculin in human aorta smooth muscle cells. , 1988, The Journal of biological chemistry.