$\require{mediawiki-texvc}$

연합인증

연합인증 가입 기관의 연구자들은 소속기관의 인증정보(ID와 암호)를 이용해 다른 대학, 연구기관, 서비스 공급자의 다양한 온라인 자원과 연구 데이터를 이용할 수 있습니다.

이는 여행자가 자국에서 발행 받은 여권으로 세계 각국을 자유롭게 여행할 수 있는 것과 같습니다.

연합인증으로 이용이 가능한 서비스는 NTIS, DataON, Edison, Kafe, Webinar 등이 있습니다.

한번의 인증절차만으로 연합인증 가입 서비스에 추가 로그인 없이 이용이 가능합니다.

다만, 연합인증을 위해서는 최초 1회만 인증 절차가 필요합니다. (회원이 아닐 경우 회원 가입이 필요합니다.)

연합인증 절차는 다음과 같습니다.

최초이용시에는
ScienceON에 로그인 → 연합인증 서비스 접속 → 로그인 (본인 확인 또는 회원가입) → 서비스 이용

그 이후에는
ScienceON 로그인 → 연합인증 서비스 접속 → 서비스 이용

연합인증을 활용하시면 KISTI가 제공하는 다양한 서비스를 편리하게 이용하실 수 있습니다.

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling 원문보기

Scientific reports, v.8, 2018년, pp.1998 -   

Tobita, Takashige (Department of Cardiology, Tokyo Women’s Medical University, Tokyo, Japan) ,  Nomura, Seitaro (Genome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo, Japan) ,  Fujita, Takanori (Genome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo, Japan) ,  Morita, Hiroyuki (Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Asano, Yoshihiro (Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Onoue, Kenji (First Department of Internal Medicine, Nara Medical University, Kashihara, Japan) ,  Ito, Masamichi (Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Imai, Yasushi (Division of Cardiovascular Medicine, Jichi Medical University, Shimotsuke, Japan) ,  Suzuki, Atsushi (Department of Cardiology, Tokyo Women’s Medical University, Tokyo, Japan) ,  Ko, Toshiyuki (Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan) ,  Satoh, Masahiro (Department of Cardio) ,  Fujita, Kanna ,  Naito, Atsuhiko T ,  Furutani, Yoshiyuki ,  Toko, Haruhiro ,  Harada, Mutsuo ,  Amiya, Eisuke ,  Hatano, Masaru ,  Takimoto, Eiki ,  Shiga, Tsuyoshi ,  Nakanishi, Toshio ,  Sakata, Yasushi ,  Ono, Minoru ,  Saito, Yoshihiko ,  Takashima, Seiji ,  Hagiwara, Nobuhisa ,  Aburatani, Hiroyuki ,  Komuro, Issei

Abstract AI-Helper 아이콘AI-Helper

Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically heterogeneous. Cardiac function is improved after treatment in some cardiomyopathy patients, but little is known about genetic predictors of long-term outcomes and myocardial recovery following medi...

참고문헌 (34)

  1. 1. Yancy CW 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines Circulation. 2013 128 e240 327 10.1161/CIR.0b013e31829e8807 23741058 

  2. 2. Maron BJ Hypertrophic cardiomyopathy: a systematic review Jama. 2002 287 1308 1320 11886323 

  3. 3. Miura K Epidemiology of idiopathic cardiomyopathy in Japan: results from a nationwide survey Heart. 2002 87 126 130 10.1136/heart.87.2.126 11796547 

  4. 4. Burkett EL Hershberger RE Clinical and genetic issues in familial dilated cardiomyopathy J Am Coll Cardiol. 2005 45 969 981 10.1016/j.jacc.2004.11.066 15808750 

  5. 5. McNally EM Golbus JR Puckelwartz MJ Genetic mutations and mechanisms in dilated cardiomyopathy J Clin Invest. 2013 123 19 26 10.1172/JCI62862 23281406 

  6. 6. Adalsteinsdottir B Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation Circulation. 2014 130 1158 1167 10.1161/CIRCULATIONAHA.114.011207 25078086 

  7. 7. Akinrinade O Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy Eur Heart J. 2015 36 2327 2337 10.1093/eurheartj/ehv253 26084686 

  8. 8. Hershberger RE Siegfried JD Update 2011: clinical and genetic issues in familial dilated cardiomyopathy J Am Coll Cardiol. 2011 57 1641 1649 10.1016/j.jacc.2011.01.015 21492761 

  9. 9. Becane HM High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation PACE. 2000 23 1661 1666 10.1046/j.1460-9592.2000.01661.x 11138304 

  10. 10. Hasselberg NE Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation EurH heart J. 2017 0 1 8 

  11. 11. Merlo M Prevalence and prognostic significance of left ventricular reverse remodeling in dilated cardiomyopathy receiving tailored medical treatment J Am Coll Cardiol. 2011 57 1468 1476 10.1016/j.jacc.2010.11.030 21435516 

  12. 12. Kubanek M Novel predictors of left ventricular reverse remodeling in individuals with recent-onset dilated cardiomyopathy J Am Coll Cardiol. 2013 61 54 63 10.1016/j.jacc.2012.07.072 23287372 

  13. 13. Biagini E Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy Am J Cardiol. 2014 114 769 776 10.1016/j.amjcard.2014.05.065 25037680 

  14. 14. Bos JM Towbin JA Ackerman MJ Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy J Am Coll Cardiol. 2009 54 201 11 10.1016/j.jacc.2009.02.075 19589432 

  15. 15. Haas J Atlas of the clinical genetics of human dilated cardiomyopathy Eur Heart J. 2015 36 1123 35a 10.1093/eurheartj/ehu301 25163546 

  16. 16. Herman DS Truncations of titin causing dilated cardiomyopathy N Engl J Med. 2012 366 619 628 10.1056/NEJMoa1110186 22335739 

  17. 17. Kelly M Semsarian C Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circ Cardiovasc Genet. 2009 2 182 190 10.1161/CIRCGENETICS.108.836478 20031583 

  18. 18. Roncarati R Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy Eur J Hum Genet. 2013 21 1105 1111 10.1038/ejhg.2013.16 23463027 

  19. 19. Ho CY Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy Circulation. 2010 122 2430 2440 10.1161/CIRCULATIONAHA.110.978924 21135371 

  20. 20. Choi J-O Predictors of Left Ventricular Reverse Remodeling and Subsequent Outcome in Nonischemic Dilated Cardiomyopathy Circ J. 2013 77 462 469 10.1253/circj.CJ-12-0507 23095684 

  21. 21. Lupon J Biomarker-assist score for reverse remodeling prediction in heart failure: The ST2-R2 score Int J Cardiol. 2015 184 337 343 10.1016/j.ijcard.2015.02.019 25734941 

  22. 22. Hasselberg, N. E. et al . Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. Eur Heart J . 10.1093/eurheartj/ehx596 (2017). 

  23. 23. Richardson P Report of the 1995World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies Circulation. 1996 93 841 842 10.1161/01.CIR.93.5.841 8598070 

  24. 24. Daimon M Normal values of echocardiographic parameters in relation to age in a healthy Japanese population: the JAMP study Circ J. 2008 72 1859 1866 10.1253/circj.CJ-08-0171 18827372 

  25. 25. Gersh BJ 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 10.1161/CIR.0b013e318223e230 22068435 

  26. 26. Elliott PM 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) Eur Heart J. 2014 35 2733 2779 10.1093/eurheartj/ehu199 25173338 

  27. 27. Li H Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM arXiv. 2013 1303 3997 

  28. 28. Li H The Sequence Alignment/Map format and SAMtools Bioinformatics. 2009 25 2078 2079 10.1093/bioinformatics/btp352 19505943 

  29. 29. 1000 Genomes Project Consortium A global reference for human genetic variation Nature. 2015 526 68 74 10.1038/nature15393 26432245 

  30. 30. Lek M Analysis of protein-coding genetic variation in 60,706 humans Nature. 2016 536 285 291 10.1038/nature19057 27535533 

  31. 31. Nagasaki M Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals Nat Commun. 2015 6 8018 10.1038/ncomms9018 26292667 

  32. 32. Kircher M A general framework for estimating the relative pathogenicity of human genetic variants Nat Genet. 2014 46 310 315 10.1038/ng.2892 24487276 

  33. 33. Stenson PD The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine Hum Genet. 2014 133 1 9 10.1007/s00439-013-1358-4 24077912 

  34. 34. Lang, R. M. et al . Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr . 28 , 1-39. e14 (2015). 

관련 콘텐츠

오픈액세스(OA) 유형

GOLD

오픈액세스 학술지에 출판된 논문

저작권 관리 안내
섹션별 컨텐츠 바로가기

AI-Helper ※ AI-Helper는 오픈소스 모델을 사용합니다.

AI-Helper 아이콘
AI-Helper
안녕하세요, AI-Helper입니다. 좌측 "선택된 텍스트"에서 텍스트를 선택하여 요약, 번역, 용어설명을 실행하세요.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.

선택된 텍스트

맨위로