Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies
Authors
Keywords
-
Journal
Nature Reviews Cardiology
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-09-15
DOI
10.1038/s41569-021-00608-2
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
- (2021) Francesco Mazzarotto et al. GENETICS IN MEDICINE
- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
- (2021) Andrew R. Harper et al. NATURE GENETICS
- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
- (2021) Rafik Tadros et al. NATURE GENETICS
- Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy
- (2021) Rahul Goli et al. CIRCULATION
- An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
- (2021) Elizabeth Jordan et al. CIRCULATION
- An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework
- (2021) Cynthia A. James et al. Circulation-Genomic and Precision Medicine
- Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
- (2021) Luis R Lopes et al. EUROPEAN HEART JOURNAL
- Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
- (2020) Francesco Mazzarotto et al. CIRCULATION
- A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies
- (2020) Job A.J. Verdonschot et al. HUMAN MUTATION
- Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure
- (2020) Marios Arvanitis et al. Nature Communications
- Deletions of specific exons of FHOD3 detected by next‐generation sequencing are associated with hypertrophic cardiomyopathy
- (2020) Juan P. Ochoa et al. CLINICAL GENETICS
- Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
- (2020) Joel Salazar-Mendiguchía et al. HEART
- Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy
- (2020) James P. Pirruccello et al. Nature Communications
- Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
- (2020) Johanna C. Herkert et al. AMERICAN HEART JOURNAL
- Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death
- (2020) Emma S. Singer et al. GENETICS IN MEDICINE
- Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants
- (2020) John Jorholt et al. Genes
- The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals
- (2020) Joel Salazar-Mendiguchía et al. European Journal of Medical Genetics
- A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy
- (2020) Chanatjit Cheawsamoot et al. Circulation-Genomic and Precision Medicine
- Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
- (2019) Roddy Walsh et al. Genome Medicine
- Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations
- (2019) Christopher Semsarian et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
- (2019) Carola Hedberg-Oldfors et al. HUMAN MOLECULAR GENETICS
- FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
- (2019) Flavie Ader et al. CLINICAL GENETICS
- Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy
- (2019) Edward G. Jones et al. Scientific Reports
- Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
- (2019) Maksymilian Prondzynski et al. EMBO Molecular Medicine
- Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype
- (2019) Charlotte L. Hall et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry
- (2019) Stefan Neubauer et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy
- (2018) Alexandre Janin et al. GENE
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- (2018) Melissa A Kelly et al. GENETICS IN MEDICINE
- Interaction between cardiac myosin-binding protein C and formin Fhod3
- (2018) Sho Matsuyama et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A promoter interaction map for cardiovascular disease genetics
- (2018) Lindsey E Montefiori et al. eLife
- Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
- (2018) Hager Jaouadi et al. JOURNAL OF HUMAN GENETICS
- Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy
- (2018) A. Schwieger-Briel et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
- (2018) Stephane E. Castel et al. NATURE GENETICS
- Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
- (2018) Sari U. M. Vanninen et al. PLoS One
- Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy
- (2018) Carolyn Y. Ho et al. CIRCULATION
- Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
- (2018) Kate L. Thomson et al. GENETICS IN MEDICINE
- A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode
- (2018) Zongzhe Li et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
- (2018) Juan Pablo Ochoa et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
- (2018) Fernando Domínguez et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Genetic Basis of Severe Childhood-Onset Cardiomyopathies
- (2018) Catalina Vasilescu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy
- (2018) Hao Cui et al. Molecular Genetics & Genomic Medicine
- Using high-resolution variant frequencies to empower clinical genome interpretation
- (2017) Nicola Whiffin et al. GENETICS IN MEDICINE
- Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
- (2017) Irene Mademont-Soler et al. PLoS One
- Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE
- (2017) Juan Gómez et al. Circulation-Cardiovascular Genetics
- Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
- (2017) Ulrike Esslinger et al. PLoS One
- Mutation in JPH2 cause dilated cardiomyopathy
- (2016) M. Sabater-Molina et al. CLINICAL GENETICS
- ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy
- (2016) Dean G. Phelan et al. EUROPEAN HEART JOURNAL
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- 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
- Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
- (2016) Rowida Almomani et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
- (2016) Zhimiao Lin et al. NATURE GENETICS
- Muscle LIM Protein: Master regulator of cardiac and skeletal muscle functions
- (2015) Elizabeth Vafiadaki et al. GENE
- Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
- (2015) Ahmed A. Alfares et al. GENETICS IN MEDICINE
- Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
- (2014) Richard D Bagnall et al. BMC Medical Genetics
- Novel -Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias: A Massively Parallel Sequencing Study
- (2014) F. Girolami et al. Circulation-Cardiovascular Genetics
- Rare Variants in Genes Encoding MuRF1 and MuRF2 Are Modifiers of Hypertrophic Cardiomyopathy
- (2014) Ming Su et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
- (2014) Rafael Valdés-Mas et al. Nature Communications
- Dilated Cardiomyopathy-Associated FHOD3 Variant Impairs the Ability to Induce Activation of Transcription Factor Serum Response Factor
- (2013) Takuro Arimura et al. CIRCULATION JOURNAL
- Obesity and its Association to Phenotype and Clinical Course in Hypertrophic Cardiomyopathy
- (2013) Iacopo Olivotto et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Formin Homology 2 Domain Containing 3 Variants Associated With Hypertrophic Cardiomyopathy
- (2012) Eric C. Wooten et al. Circulation-Cardiovascular Genetics
- Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
- (2012) Paul A. van der Zwaag et al. EUROPEAN JOURNAL OF HEART FAILURE
- Mammalian formin Fhod3 plays an essential role in cardiogenesis by organizing myofibrillogenesis
- (2012) M. Kan-O et al. Biology Open
- Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy
- (2011) Christine E. Seidman et al. CIRCULATION RESEARCH
- Cardiomyopathy in α-Kinase 3 (ALPK3)–Deficient Mice
- (2011) I. Van Sligtenhorst et al. VETERINARY PATHOLOGY
- A Common MLP (Muscle LIM Protein) Variant Is Associated With Cardiomyopathy
- (2010) Ralph Knöll et al. CIRCULATION RESEARCH
- Cell Membrane Expression of Cardiac Sodium Channel Nav1.5 Is Modulated by α-Actinin-2 Interaction
- (2009) Rahima Ziane et al. BIOCHEMISTRY
- Mammalian Formin Fhod3 Regulates Actin Assembly and Sarcomere Organization in Striated Muscles
- (2009) Kenichiro Taniguchi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy
- (2009) Christine Chiu et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
- (2008) Christian Geier et al. HUMAN MOLECULAR GENETICS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started