Cargando…

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cecconi, Massimiliano, Parodi, Maria I., Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B., Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, Coviello, Domenico A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2016
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029966/ https://www.ncbi.nlm.nih.gov/pubmed/27600940 http://dx.doi.org/10.3892/ijmm.2016.2732

Ejemplares similares

The natural history of hypertrophic cardiomyopathy
por: Autore, Camillo, et al.
Publicado: (2020)

Old and new therapeutic solutions in the treatment of hypertrophic cardiomyopathy
por: Autore, Camillo, et al.
Publicado: (2023)

Late gadolinium enhancement score (LGE-Score) for prediction of extensive late gadolinium enhancement in hypertrophic cardiomyopathy
por: Chan, Raymond H, et al.
Publicado: (2015)

Left Ventricular Remodeling in Hypertrophic Cardiomyopathy: An Overview of Current Knowledge
por: Musumeci, Beatrice, et al.
Publicado: (2021)

Clinical course of hypertrophic cardiomyopathy patients implanted with a transvenous or subcutaneous defibrillator
por: Francia, Pietro, et al.
Publicado: (2023)

Insights from Cardiopulmonary Exercise Testing in Pediatric Patients with Hypertrophic Cardiomyopathy
por: Gallo, Giovanna, et al.
Publicado: (2021)

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
por: Cava, Francesco, et al.
Publicado: (2021)

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
por: Rubattu, Speranza, et al.
Publicado: (2016)

Takotsubo syndrome: hyperthyroidism, pheochromocytoma, or both? A case report
por: Marino, Gaetano, et al.
Publicado: (2021)

Yield of bone scintigraphy screening for transthyretin‐related cardiac amyloidosis in different conditions: Methodological issues and clinical implications
por: Tini, Giacomo, et al.
Publicado: (2021)

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
por: Cava, Francesco, et al.
Publicado: (2023)

Current patterns of beta‐blocker prescription in cardiac amyloidosis: an Italian nationwide survey
por: Tini, Giacomo, et al.
Publicado: (2021)

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing
por: Magrì, Damiano, et al.
Publicado: (2020)

Quantitative analysis of late gadolinium enhancement in hypertrophic cardiomyopathy
por: Aquaro, Giovanni Donato, et al.
Publicado: (2010)

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM
por: Tavian, D., et al.
Publicado: (2017)

Predictors of Exercise Capacity in Dilated Cardiomyopathy with Focus on Pulmonary Venous Flow Recorded with Transesophageal Eco-Doppler
por: Caiati, Carlo, et al.
Publicado: (2021)

Scar architecture determinants of ventricular arrhythmias in patients with hypertrophic cardiomyopathy: a cardiac magnetic resonance study
por: Francia, P, et al.
Publicado: (2023)

Unexpectedly Low Mutation Rates in Beta-Myosin Heavy Chain and Cardiac Myosin Binding Protein Genes in Italian Patients With Hypertrophic Cardiomyopathy
por: Roncarati, Roberta, et al.
Publicado: (2011)

The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca(2+) handling
por: Carmosino, Monica, et al.
Publicado: (2016)

Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome
por: De Zio, Roberta, et al.
Publicado: (2019)

Effects of myocardial fibrosis assessed by MRI on dynamic left ventricular outflow tract obstruction in patients with hypertrophic cardiomyopathy: a retrospective database analysis
por: Biagini, Elena, et al.
Publicado: (2012)

Prediction of thrombo‐embolic risk in patients with hypertrophic cardiomyopathy (HCM Risk‐CVA)
por: Guttmann, Oliver P., et al.
Publicado: (2015)

Differing strategies for sudden death prevention in hypertrophic cardiomyopathy
por: Maron, Martin S, et al.
Publicado: (2023)

Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X
por: De Zio, Roberta, et al.
Publicado: (2022)

Pro‐inflammatory cytokines as emerging molecular determinants in cardiolaminopathies
por: Gerbino, Andrea, et al.
Publicado: (2021)

Deciphering the contributions of cuproptosis in the development of hypertrophic scar using single-cell analysis and machine learning techniques
por: Song, Binyu, et al.
Publicado: (2023)

Clinical application of CMR in cardiomyopathies: evolving concepts and techniques: A position paper of myocardial and pericardial diseases and cardiac magnetic resonance working groups of Italian society of cardiology
por: Merlo, Marco, et al.
Publicado: (2022)

Risk stratification in transthyretin-related cardiac amyloidosis
por: Scirpa, Riccardo, et al.
Publicado: (2023)

Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report
por: Santobuono, Vincenzo Ezio, et al.
Publicado: (2021)

A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy
por: Iacovoni, Attilio, et al.
Publicado: (2012)

Exploring the influence of takotsubo syndrome on oncologic patients’ mortality
por: Tini, Giacomo, et al.
Publicado: (2022)

Diabetes and Alzheimer’s Disease: Might Mitochondrial Dysfunction Help Deciphering the Common Path?
por: Potenza, Maria Assunta, et al.
Publicado: (2021)

DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms
por: Poeta, Loredana, et al.
Publicado: (2020)

Right ventricular obstructive hypertrophic cardiomyopathy in primary Myo-Adenylate Deaminase Deficiency
por: DE GREGORIO, C., et al.
Publicado: (2011)

Low QRS Voltages in Cardiac Amyloidosis: Clinical Correlates and Prognostic Value
por: Cipriani, Alberto, et al.
Publicado: (2022)

Natriuretic Peptides: It Is Time for Guided Therapeutic Strategies Based on Their Molecular Mechanisms
por: Gallo, Giovanna, et al.
Publicado: (2023)

Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy
por: Forleo, Cinzia, et al.
Publicado: (2015)

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies
por: Forleo, Cinzia, et al.
Publicado: (2017)

Deciphering Pathways for Carotenogenesis in Haloarchaea
por: Giani, Micaela, et al.
Publicado: (2020)

Decipher
por: Pavlou, S
Publicado: (2001)

Cannot write session to /tmp/vufind_sessions/sess_hq218tk4r4om78i2mfccth4jds