메뉴 건너뛰기




Volumn 345, Issue 3, 2006, Pages 998-1003

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

Author keywords

Cell biology; Genetics; Hypertrophic cardiomyopathy; Molecular biology; Vinculin

Indexed keywords

VINCULIN;

EID: 33646850881     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.04.151     Document Type: Article
Times cited : (81)

References (29)
  • 1
    • 32044458438 scopus 로고    scopus 로고
    • Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy
    • Vasile V.C., Will M.L., Ommen S.R., Edwards W.D., Olson T.M., and Ackerman M.J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol. Genet. Metab. 87 (2006) 169-174
    • (2006) Mol. Genet. Metab. , vol.87 , pp. 169-174
    • Vasile, V.C.1    Will, M.L.2    Ommen, S.R.3    Edwards, W.D.4    Olson, T.M.5    Ackerman, M.J.6
  • 2
    • 0041663609 scopus 로고    scopus 로고
    • Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    • Van Driest S.L., Ellsworth E.G., Ommen S.R., Tajik A.J., Gersh B.J., and Ackerman M.J. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 108 (2003) 445-451
    • (2003) Circulation , vol.108 , pp. 445-451
    • Van Driest, S.L.1    Ellsworth, E.G.2    Ommen, S.R.3    Tajik, A.J.4    Gersh, B.J.5    Ackerman, M.J.6
  • 7
    • 0029083650 scopus 로고
    • 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
    • Maron B.J., Gardin J.M., Flack J.M., Gidding S.S., Kurosaki T.T., and Bild D.E. 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. Circulation 92 (1995) 785-789
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 8
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: a systematic review
    • Maron B.J. Hypertrophic cardiomyopathy: a systematic review. JAMA 287 (2002) 1308-1320
    • (2002) JAMA , vol.287 , pp. 1308-1320
    • Maron, B.J.1
  • 9
    • 0036796263 scopus 로고    scopus 로고
    • Phenotypic diversity in hypertrophic cardiomyopathy
    • Arad M., Seidman J.G., and Seidman C.E. Phenotypic diversity in hypertrophic cardiomyopathy. Human Mol. Genet. 11 (2002) 2499-2506
    • (2002) Human Mol. Genet. , vol.11 , pp. 2499-2506
    • Arad, M.1    Seidman, J.G.2    Seidman, C.E.3
  • 10
    • 4344705206 scopus 로고    scopus 로고
    • Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy
    • Maron B.J., Seidman J.G., and Seidman C.E. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 44 (2004) 2125-2132
    • (2004) J. Am. Coll. Cardiol. , vol.44 , pp. 2125-2132
    • Maron, B.J.1    Seidman, J.G.2    Seidman, C.E.3
  • 13
    • 0026504630 scopus 로고
    • 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
    • Koteliansky V.E., Ogryzko E.P., Zhidkova N.I., Weller P.A., Critchley D.R., Vancompernolle K., Vandekerckhove J., Strasser P., Way M., Gimona M., 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. Eur. J. Biochem. 204 (1992) 767-772
    • (1992) Eur. J. Biochem. , vol.204 , pp. 767-772
    • Koteliansky, V.E.1    Ogryzko, E.P.2    Zhidkova, N.I.3    Weller, P.A.4    Critchley, D.R.5    Vancompernolle, K.6    Vandekerckhove, J.7    Strasser, P.8    Way, M.9    Gimona, M.10
  • 14
    • 0023889459 scopus 로고
    • Diversity of vinculin/meta-vinculin in human tissues and cultivated cells. Expression of muscle specific variants of vinculin in human aorta smooth muscle cells
    • Belkin A.M., Ornatsky O.I., Kabakov A.E., Glukhova M.A., and Koteliansky V.E. Diversity of vinculin/meta-vinculin in human tissues and cultivated cells. Expression of muscle specific variants of vinculin in human aorta smooth muscle cells. J. Biol. Chem. 263 (1988) 6631-6635
    • (1988) J. Biol. Chem. , vol.263 , pp. 6631-6635
    • Belkin, A.M.1    Ornatsky, O.I.2    Kabakov, A.E.3    Glukhova, M.A.4    Koteliansky, V.E.5
  • 15
    • 0023770986 scopus 로고
    • Immunolocalization of meta-vinculin in human smooth and cardiac muscles
    • Belkin A.M., Ornatsky O.I., Glukhova M.A., and Koteliansky V.E. Immunolocalization of meta-vinculin in human smooth and cardiac muscles. J. Cell Biol. 107 (1988) 545-553
    • (1988) J. Cell Biol. , vol.107 , pp. 545-553
    • Belkin, A.M.1    Ornatsky, O.I.2    Glukhova, M.A.3    Koteliansky, V.E.4
  • 17
    • 0032503970 scopus 로고    scopus 로고
    • Differential actin organization by vinculin isoforms: implications for cell type-specific microfilament anchorage
    • Rudiger M., Korneeva N., Schwienbacher C., Weiss E.E., and Jockusch B.M. Differential actin organization by vinculin isoforms: implications for cell type-specific microfilament anchorage. FEBS Lett. 431 (1998) 49-54
    • (1998) FEBS Lett. , vol.431 , pp. 49-54
    • Rudiger, M.1    Korneeva, N.2    Schwienbacher, C.3    Weiss, E.E.4    Jockusch, B.M.5
  • 18
    • 33751297308 scopus 로고    scopus 로고
    • Mechanical forces regulate focal adhesion and costamere assembly in cardiac myocytes
    • Sharp W.W., Simpson D.G., Borg T.K., Samarel A.M., and Terracio L. Mechanical forces regulate focal adhesion and costamere assembly in cardiac myocytes. Am. J. Physiol. 273 (1997) H546-H556
    • (1997) Am. J. Physiol. , vol.273
    • Sharp, W.W.1    Simpson, D.G.2    Borg, T.K.3    Samarel, A.M.4    Terracio, L.5
  • 19
    • 0031929760 scopus 로고    scopus 로고
    • Vinculin knockout results in heart and brain defects during embryonic development
    • Xu W., Baribault H., and Adamson E.D. Vinculin knockout results in heart and brain defects during embryonic development. Development 125 (1998) 327-337
    • (1998) Development , vol.125 , pp. 327-337
    • Xu, W.1    Baribault, H.2    Adamson, E.D.3
  • 22
    • 0035872209 scopus 로고    scopus 로고
    • 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
    • Blair E., Redwood C., Ashrafian H., Oliveira M., Broxholme J., Kerr B., Salmon A., Ostman-Smith I., and Watkins H. 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. Hum. Mol. Genet. 10 (2001) 1215-1220
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1215-1220
    • Blair, E.1    Redwood, C.2    Ashrafian, H.3    Oliveira, M.4    Broxholme, J.5    Kerr, B.6    Salmon, A.7    Ostman-Smith, I.8    Watkins, H.9
  • 27
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B., Takenaka T., Teraguchi H., Tei C., Lee P., McKenna W.J., and Elliott P.M. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6    Elliott, P.M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.