메뉴 건너뛰기




Volumn 130, Issue 14, 2014, Pages 1158-1167

Nationwide study on hypertrophic cardiomyopathy in iceland evidence of a MYBPC3 founder mutation

Author keywords

Cardiomyopathies; Genes; Genetics; Hypertrophy

Indexed keywords

DIURETIC AGENT; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 7; PROTEIN; PROTEIN MYBPC3; TROPONIN T; UNCLASSIFIED DRUG; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

EID: 84925223637     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.114.011207     Document Type: Article
Times cited : (57)

References (41)
  • 1
    • 84872551624 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet. 2013;381:242-255.
    • (2013) Lancet , vol.381 , pp. 242-255
    • Maron, B.J.1    Maron, M.S.2
  • 2
    • 77950108961 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Ho CY. Hypertrophic cardiomyopathy. Heart Fail Clin. 2010;6:141-159.
    • (2010) Heart Fail Clin , vol.6 , pp. 141-159
    • Ho, C.Y.1
  • 3
    • 84865127014 scopus 로고    scopus 로고
    • Genetics of hypertrophic cardiomyopathy after 20 years: Clinical perspectives
    • Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 2012;60:705-715.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 705-715
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 5
    • 37549040201 scopus 로고    scopus 로고
    • Genetic basis of hypertrophic cardiomyopathy: From bench to the clinics
    • Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008;19:104-110.
    • (2008) J Cardiovasc Electrophysiol , vol.19 , pp. 104-110
    • Alcalai, R.1    Seidman, J.G.2    Seidman, C.E.3
  • 6
    • 84888066429 scopus 로고    scopus 로고
    • A systematic review and metaanalysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
    • Lopes LR, Rahman MS, Elliott PM. A systematic review and metaanalysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations. Heart. 2013;99:1800-1811.
    • (2013) Heart , vol.99 , pp. 1800-1811
    • Lopes, L.R.1    Rahman, M.S.2    Elliott, P.M.3
  • 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 BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. 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. 1995;92:785-789.
    • (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
  • 9
    • 83555165877 scopus 로고    scopus 로고
    • 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: Executive summary
    • American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
    • Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW; American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124:2761-2796.
    • (2011) Circulation , vol.124 , pp. 2761-2796
    • Gersh, B.J.1    Maron, B.J.2    Bonow, R.O.3    Dearani, J.A.4    Fifer, M.A.5    Link, M.S.6    Naidu, S.S.7    Nishimura, R.A.8    Ommen, S.R.9    Rakowski, H.10    Seidman, C.E.11    Towbin, J.A.12    Udelson, J.E.13    Yancy, C.W.14
  • 19
    • 84927955278 scopus 로고    scopus 로고
    • Accessed December 1, 2013
    • Statistics Iceland: Population 2013. http://www.statice.is/statistics/ population. Accessed December 1, 2013.
    • Statistics Iceland: Population 2013
  • 20
    • 0034202663 scopus 로고    scopus 로고
    • Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy
    • Anan R, Shono H, Tei C. Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. Hum Mutat. 2000;15:584.
    • (2000) Hum Mutat , vol.15 , pp. 584
    • Anan, R.1    Shono, H.2    Tei, C.3
  • 24
    • 0033361790 scopus 로고    scopus 로고
    • The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: A unique profile of both independent and founder events
    • Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet. 1999;65:1308-1320.
    • (1999) Am J Hum Genet , vol.65 , pp. 1308-1320
    • Moolman-Smook, J.C.1    De Lange, W.J.2    Bruwer, E.C.3    Brink, P.A.4    Corfield, V.A.5
  • 25
    • 0142185106 scopus 로고    scopus 로고
    • Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
    • Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab. 2003;80:307-314.
    • (2003) Mol Genet Metab , vol.80 , pp. 307-314
    • Froissart, R.1    Guffon, N.2    Vanier, M.T.3    Desnick, R.J.4    Maire, I.5
  • 26
    • 0038015674 scopus 로고    scopus 로고
    • A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: Evidence for a faster evolutionary rate of mtDNA lineages than y chromosomes
    • Helgason A, Hrafnkelsson B, Gulcher JR, Ward R, Stefánsson K. A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes. Am J Hum Genet. 2003;72:1370-1388.
    • (2003) Am J Hum Genet , vol.72 , pp. 1370-1388
    • Helgason, A.1    Hrafnkelsson, B.2    Gulcher, J.R.3    Ward, R.4    Stefánsson, K.5
  • 28
    • 39749164101 scopus 로고    scopus 로고
    • Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy
    • Revera M, van der Merwe L, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC. Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. Cardiovasc Res. 2008;77:687-694.
    • (2008) Cardiovasc Res , vol.77 , pp. 687-694
    • Revera, M.1    Van Der Merwe, L.2    Heradien, M.3    Goosen, A.4    Corfield, V.A.5    Brink, P.A.6    Moolman-Smook, J.C.7
  • 33
    • 27444446344 scopus 로고    scopus 로고
    • Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac myosin-binding protein C gene among Japanese
    • Kubo T, Kitaoka H, Okawa M, Matsumura Y, Hitomi N, Yamasaki N, Furuno T, Takata J, Nishinaga M, Kimura A, Doi YL. Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac myosin-binding protein C gene among Japanese. J Am Coll Cardiol. 2005;46:1737-1743.
    • (2005) J Am Coll Cardiol , vol.46 , pp. 1737-1743
    • Kubo, T.1    Kitaoka, H.2    Okawa, M.3    Matsumura, Y.4    Hitomi, N.5    Yamasaki, N.6    Furuno, T.7    Takata, J.8    Nishinaga, M.9    Kimura, A.10    Doi, Y.L.11
  • 40
    • 84555222948 scopus 로고    scopus 로고
    • Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors
    • Maron BJ, Maron MS, Semsarian C. Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. Heart Rhythm. 2012;9:57-63.
    • (2012) Heart Rhythm , vol.9 , pp. 57-63
    • Maron, B.J.1    Maron, M.S.2    Semsarian, C.3
  • 41
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
    • Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42:e59.
    • (2005) J Med Genet , vol.42 , pp. e59
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.