标题
Genetics and genomics of dilated cardiomyopathy and systolic heart failure
作者
关键词
Heart Failure, Rare Variant, Heart Failure With Preserve Ejection Fraction, Arrhythmogenic Right Ventricular Cardiomyopathy, Systolic Heart Failure
出版物
Genome Medicine
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-02-23
DOI
10.1186/s13073-017-0410-8
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism
- (2016) Abdelaziz Beqqali et al. CARDIOVASCULAR RESEARCH
- Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases
- (2016) Yigal M. Pinto et al. EUROPEAN HEART JOURNAL
- 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure
- (2016) Piotr Ponikowski et al. EUROPEAN HEART JOURNAL
- Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
- (2016) Joeri A. Jansweijer et al. EUROPEAN JOURNAL OF HEART FAILURE
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
- (2016) Martín F. Ortiz-Genga et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- 52 Genetic Loci Influencing Myocardial Mass
- (2016) Pim van der Harst et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Titin-truncating variants affect heart function in disease cohorts and the general population
- (2016) Sebastian Schafer et al. NATURE GENETICS
- Epidemiology and aetiology of heart failure
- (2016) Boback Ziaeian et al. Nature Reviews Cardiology
- Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies
- (2016) James S. Ware et al. NEW ENGLAND JOURNAL OF MEDICINE
- Defibrillator Implantation in Patients with Nonischemic Systolic Heart Failure
- (2016) Lars Køber et al. NEW ENGLAND JOURNAL OF MEDICINE
- A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice
- (2016) E. M. Green et al. SCIENCE
- Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes
- (2016) Chee Jian Pua et al. Journal of Cardiovascular Translational Research
- Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy
- (2016) Nina Nouhravesh et al. Molecular Genetics & Genomic Medicine
- ZBTB17(MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart FailureCLINICAL PERSPECTIVE
- (2015) Byambajav Buyandelger et al. Circulation-Cardiovascular Genetics
- Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy
- (2015) Oyediran Akinrinade et al. EUROPEAN HEART JOURNAL
- Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population
- (2015) Alex Hørby Christensen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Heart failure preserved ejection fraction (HFpEF): an integrated and strategic review
- (2015) Carolyn L. Lekavich et al. HEART FAILURE REVIEWS
- Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients
- (2015) Sophie Garnier et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Defining the real-world reproducibility of visual grading of left ventricular function and visual estimation of left ventricular ejection fraction: impact of image quality, experience and accreditation
- (2015) Graham D. Cole et al. INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
- Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
- (2015) J. T. Hinson et al. SCIENCE
- Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy
- (2015) C. Long et al. SCIENCE
- Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
- (2015) Angharad M. Roberts et al. Science Translational Medicine
- ZBTB17(MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart FailureCLINICAL PERSPECTIVE
- (2015) Byambajav Buyandelger et al. Circulation-Cardiovascular Genetics
- Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome
- (2014) Nicole de Leeuw et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy
- (2014) Gabriella Captur et al. Circulation-Cardiovascular Imaging
- Atlas of the clinical genetics of human dilated cardiomyopathy
- (2014) Jan Haas et al. EUROPEAN HEART JOURNAL
- The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
- (2014) Trevor J. Pugh et al. GENETICS IN MEDICINE
- Angiotensin–Neprilysin Inhibition versus Enalapril in Heart Failure
- (2014) John J.V. McMurray et al. NEW ENGLAND JOURNAL OF MEDICINE
- Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
- (2013) Anne-Karin Arndt et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Novel Approach to Drug Development in Heart Failure: Towards Personalized Medicine
- (2013) Licette C.Y. Liu et al. CANADIAN JOURNAL OF CARDIOLOGY
- Genetic Cardiomyopathies Causing Heart Failure
- (2013) Thomas J. Cahill et al. CIRCULATION RESEARCH
- T1 Measurements Identify Extracellular Volume Expansion in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers With and Without Left Ventricular Hypertrophy
- (2013) Carolyn Y. Ho et al. Circulation-Cardiovascular Imaging
- A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy
- (2013) Benjamin Meder et al. EUROPEAN HEART JOURNAL
- Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
- (2013) Roberta Roncarati et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- Association of Fibrosis With Mortality and Sudden Cardiac Death in Patients With Nonischemic Dilated Cardiomyopathy
- (2013) Ankur Gulati et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture
- (2013) Ray E. Hershberger et al. Nature Reviews Cardiology
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Genome-Wide Association Study of Cardiac Structure and Systolic Function in African Americans
- (2012) Ervin R. Fox et al. Circulation-Cardiovascular Genetics
- Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers
- (2012) Ingrid A.W. van Rijsingen et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
- (2012) Wei Guo et al. NATURE MEDICINE
- Rare and common variants: twenty arguments
- (2012) Greg Gibson NATURE REVIEWS GENETICS
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- β1 Adrenergic Receptor Polymorphisms and Heart Failure: A Meta-Analysis on Susceptibility, Response to β-Blocker Therapy and Prognosis
- (2012) Wen-Nan Liu et al. PLoS One
- Review and Metaanalysis of the Frequency of Familial Dilated Cardiomyopathy
- (2011) Mario Petretta et al. AMERICAN JOURNAL OF CARDIOLOGY
- Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
- (2011) Nadine Norton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Hypertrophy-Associated Polymorphisms Ascertained in a Founder Cohort Applied to Heart Failure Risk and Mortality
- (2011) Afshin Parsa et al. CTS-Clinical and Translational Science
- Genetics of common forms of heart failure
- (2011) Gerald W Dorn CURRENT OPINION IN CARDIOLOGY
- A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
- (2011) Eric Villard et al. EUROPEAN HEART JOURNAL
- Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study
- (2011) P. Garcia-Pavia et al. HEART
- Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy
- (2011) Marwan M. Refaat et al. HEART RHYTHM
- Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster
- (2011) F. Del Greco M. et al. HUMAN MOLECULAR GENETICS
- Association of angiotensin-converting enzyme I/D polymorphism with heart failure: a meta-analysis
- (2011) Yuanyuan Bai et al. MOLECULAR AND CELLULAR BIOCHEMISTRY
- Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation
- (2011) T. P. Cappola et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Association of Genome-Wide Variation With the Risk of Incident Heart Failure in Adults of European and African Ancestry
- (2010) Nicholas L. Smith et al. Circulation-Cardiovascular Genetics
- Common Variants in HSPB7 and FRMD4B Associated With Advanced Heart Failure
- (2010) Thomas P. Cappola et al. Circulation-Cardiovascular Genetics
- Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy
- (2010) Duanxiang Li et al. CTS-Clinical and Translational Science
- Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
- (2010) P. Charron et al. EUROPEAN HEART JOURNAL
- Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy
- (2010) Klaus Stark et al. PLoS Genetics
- The Genetics of Congestive Heart Failure
- (2010) Calum A. MacRae Heart Failure Clinics
- Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy
- (2009) Katharine M. Brauch et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- HBEGF, SRA1, and IK: Three cosegregating genes as determinants of cardiomyopathy
- (2008) F. Friedrichs et al. GENOME RESEARCH
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation