메뉴 건너뛰기




Volumn 84, Issue 8, 2006, Pages 682-691

Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: A pilot study using DGGE

Author keywords

Candidate gene; Cardiomyopathy; Familial disease; Mutation; Polymorphism

Indexed keywords

DNA FRAGMENT;

EID: 33746770424     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-006-0056-2     Document Type: Article
Times cited : (32)

References (35)
  • 1
    • 0021346026 scopus 로고
    • Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by M-mode and two-dimensional echocardiography
    • Maron BJ, Nichols PF 3rd, Pickle LW, Wesley YE, Mulvihill JJ (1984) Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol 53:1087-1094
    • (1984) Am J Cardiol , vol.53 , pp. 1087-1094
    • Maron, B.J.1    Nichols III, P.F.2    Pickle, L.W.3    Wesley, Y.E.4    Mulvihill, J.J.5
  • 3
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
    • Seidman JG, Seidman C (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104:557-567
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 5
    • 33744494538 scopus 로고    scopus 로고
    • The sarcomeric Z-disc: A nodal point in signalling and disease
    • In press
    • Frank D, Kuhn C, Katus HA, Frey N (2006) The sarcomeric Z-disc: a nodal point in signalling and disease. J Mol Med (In press)
    • (2006) J Mol Med
    • Frank, D.1    Kuhn, C.2    Katus, H.A.3    Frey, N.4
  • 6
    • 0030791025 scopus 로고    scopus 로고
    • Methods for detection of point mutations: Performance and quality assessment
    • IFCC Scientific Division, Committee on Molecular Biology Techniques
    • Nollau P, Wagener C (1997) Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques. Clin Chem 43:1114-1128
    • (1997) Clin Chem , vol.43 , pp. 1114-1128
    • Nollau, P.1    Wagener, C.2
  • 7
    • 0025167972 scopus 로고
    • Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp
    • Abrams ES, Murdaugh SE, Lerman LS (1990) Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics 7:463-475
    • (1990) Genomics , vol.7 , pp. 463-475
    • Abrams, E.S.1    Murdaugh, S.E.2    Lerman, L.S.3
  • 8
    • 0032934453 scopus 로고    scopus 로고
    • Guidelines for the study of familial dilated cardiomyopathies. Collaborative research group of the european human and capital mobility project on familial dilated cardiomyopathy
    • Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charron P, Rocco C, Tesson F, Richter A, Wilke A, Komajda M (1999) Guidelines for the study of familial dilated cardiomyopathies. Collaborative research group of the european human and capital mobility project on familial dilated cardiomyopathy. Eur Heart J 20:93-102
    • (1999) Eur Heart J , vol.20 , pp. 93-102
    • Mestroni, L.1    Maisch, B.2    McKenna, W.J.3    Schwartz, K.4    Charron, P.5    Rocco, C.6    Tesson, F.7    Richter, A.8    Wilke, A.9    Komajda, M.10
  • 9
    • 0242321143 scopus 로고    scopus 로고
    • American college of cardiology/european society of cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the american college of cardiology foundation task force on clinical expert consensus documents and the european society of cardiology committee for practice guidelines
    • Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH 3rd, Spirito P, Ten Cate FJ, Wigle ED (2003) American college of cardiology/european society of cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the american college of cardiology foundation task force on clinical expert consensus documents and the european society of cardiology committee for practice guidelines. Eur Heart J 24:1965-1991
    • (2003) Eur Heart J , vol.24 , pp. 1965-1991
    • Maron, B.J.1    McKenna, W.J.2    Danielson, G.K.3    Kappenberger, L.J.4    Kuhn, H.J.5    Seidman, C.E.6    Shah, P.M.7    Spencer III, W.H.8    Spirito, P.9    Ten Cate, F.J.10    Wigle, E.D.11
  • 12
    • 0036083657 scopus 로고    scopus 로고
    • Global gene expression profiling of end-stage dilated cardiomyopathy using a human cardiovascular-based cDNA microarray
    • Barrans JD, Allen PD, Stamatiou D, Dzau VJ, Liew CC (2002) Global gene expression profiling of end-stage dilated cardiomyopathy using a human cardiovascular-based cDNA microarray. Am J Pathol 160:2035-2043
    • (2002) Am J Pathol , vol.160 , pp. 2035-2043
    • Barrans, J.D.1    Allen, P.D.2    Stamatiou, D.3    Dzau, V.J.4    Liew, C.C.5
  • 13
    • 0002537440 scopus 로고    scopus 로고
    • Cardiac hypertrophy: The good, the bad, and the ugly
    • Frey N, Olson EN (2003) Cardiac hypertrophy: the good, the bad, and the ugly. Annu Rev Physiol 65:45-79
    • (2003) Annu Rev Physiol , vol.65 , pp. 45-79
    • Frey, N.1    Olson, E.N.2
  • 15
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439-474
    • (2001) Hum Mutat , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2
  • 16
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O'Donovan MC (1999) Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:1133-1140
    • (1999) Clin Chem , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3    Hoogendoorn, B.4    Oefner, P.J.5    Cheadle, J.P.6    O'Donovan, M.C.7
  • 17
    • 0034078332 scopus 로고    scopus 로고
    • A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning
    • Ellis LA, Taylor CF, Taylor GR (2000) A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning. Hum Mutat 15:556-564
    • (2000) Hum Mutat , vol.15 , pp. 556-564
    • Ellis, L.A.1    Taylor, C.F.2    Taylor, G.R.3
  • 18
    • 0036787237 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited cardiomyopathies
    • Fatkin D, Graham RM (2002) Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 82:945-980
    • (2002) Physiol Rev , vol.82 , pp. 945-980
    • Fatkin, D.1    Graham, R.M.2
  • 23
    • 0030852878 scopus 로고    scopus 로고
    • Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein
    • Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz WM, Fischer C, Vollrath B, Mall G, Dietz R, Kubler W, Katus HA (1997) Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein. J Clin Invest 100:475-482
    • (1997) J Clin Invest , vol.100 , pp. 475-482
    • Rottbauer, W.1    Gautel, M.2    Zehelein, J.3    Labeit, S.4    Franz, W.M.5    Fischer, C.6    Vollrath, B.7    Mall, G.8    Dietz, R.9    Kubler, W.10    Katus, H.A.11
  • 32
    • 0042611650 scopus 로고    scopus 로고
    • Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3
    • Mizuno Y, Puca AA, O'Brien KF, Beggs AH, Kunkel LM (2001) Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. BMC Genet 2:8
    • (2001) BMC Genet , vol.2 , pp. 8
    • Mizuno, Y.1    Puca, A.A.2    O'Brien, K.F.3    Beggs, A.H.4    Kunkel, L.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.