Cargando…

Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rafael, Julianny Freitas, Cruz Filho, Fernando Eugênio dos Santos, de Carvalho, Antônio Carlos Campos, Gottlieb, Ilan, Cazelli, José Guilherme, Siciliano, Ana Paula, Dias, Glauber Monteiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Cardiologia - SBC 2017
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421475/ https://www.ncbi.nlm.nih.gov/pubmed/28538763 http://dx.doi.org/10.5935/abc.20170045

Ejemplares similares

Moderating the Myosin Motor to Treat Hypertrophic Cardiomyopathy
por: Papp, Zoltán
Publicado: (2022)

Exuberant Pattern of Late Gadolinium Enhancement in Hypertrophic Cardiomyopathy
por: Fernandes, Elsa, et al.
Publicado: (2013)

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation
por: Alsters, S., et al.
Publicado: (2019)

Myosins and MyomiR Network in Patients with Obstructive Hypertrophic Cardiomyopathy
por: Foglieni, Chiara, et al.
Publicado: (2022)

The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy
por: Jacques, Adam M., et al.
Publicado: (2008)

Mavacamten: a first-in-class myosin inhibitor for obstructive hypertrophic cardiomyopathy
por: Braunwald, Eugene, et al.
Publicado: (2023)

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report
por: Li, Tiange, et al.
Publicado: (2023)

Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light
por: Trivedi, Darshan V., et al.
Publicado: (2017)

Getting inside the engine - myosin modulation in hypertrophic cardiomyopathy and systolic heart failure
por: Daniels, Matthew J, et al.
Publicado: (2021)

The Hypertrophic Cardiomyopathy Myosin Mutation R453C Alters ATP Binding and Hydrolysis of Human Cardiac β-Myosin
por: Bloemink, Marieke, et al.
Publicado: (2014)

Hypertrophic cardiomyopathy caused by a heterozygous variant in TTR gene: A case report
por: Yuan, Huayuan, et al.
Publicado: (2023)

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy
por: Tripathi, Snigdha, et al.
Publicado: (2011)

Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy
por: Kawana, Masataka, et al.
Publicado: (2017)

Myosin Modulators: The New Era of Medical Therapy for Systolic Heart Failure and Hypertrophic Cardiomyopathy
por: Lekaditi, Dimitra, et al.
Publicado: (2021)

Prevalence and Prediction of Obstructive Coronary Artery Disease in Patients Undergoing Primary Heart Valve Surgery
por: Cazelli, José Guilherme, et al.
Publicado: (2017)

Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner
por: Singh, Rohit R., et al.
Publicado: (2021)

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants
por: Jorholt, John, et al.
Publicado: (2020)

Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
por: Yang, Jamie O., et al.
Publicado: (2022)

Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
por: Andreeva, Sofiya, et al.
Publicado: (2022)

Mutation Analysis of Three Exons of Myosin-Binding Protein C3 in Patients with Hypertrophic Cardiomyopathy
por: Mobasheri, Maryam Beigom, et al.
Publicado: (2016)

β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity
por: Adhikari, Arjun S., et al.
Publicado: (2019)

Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition
por: Robert-Paganin, Julien, et al.
Publicado: (2018)

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes
por: Alamo, Lorenzo, et al.
Publicado: (2017)

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
por: Adalsteinsdottir, Berglind, et al.
Publicado: (2020)

Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy
por: Toepfer, Christopher N., et al.
Publicado: (2020)

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 R403Q Myosin Mutation Implicated in Familial Hypertrophic Cardiomyopathy Causes Disorder at the Actomyosin Interface
por: Volkmann, Niels, et al.
Publicado: (2007)

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy
por: Rodríguez-García, María Isabel, et al.
Publicado: (2010)

Prevalence of cardiac myosin-binding protein C3 mutations in Maine Coon cats with hypertrophic cardiomyopathy
por: Sukumolanan, Pratch, et al.
Publicado: (2022)

Cardiac Myosin Inhibitors as a Novel Treatment Option for Obstructive Hypertrophic Cardiomyopathy: Addressing the Core of the Matter
por: Masri, Ahmad, et al.
Publicado: (2022)

Hypertrophic cardiomyopathy
por: Antunes, Murillo de Oliveira, et al.
Publicado: (2020)

Hypertrophic Cardiomyopathy
por: Butt, Asra K., et al.
Publicado: (2023)

Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function
por: Morck, Makenna M, et al.
Publicado: (2022)

A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity
por: Andersen, Paal Skytt, et al.
Publicado: (2012)

Prolonged cross-bridge binding triggers muscle dysfunction in a Drosophila model of myosin-based hypertrophic cardiomyopathy
por: Kronert, William A, et al.
Publicado: (2018)

Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C
por: Stern, Joshua A., et al.
Publicado: (2023)

Prospects for remodeling the hypertrophic heart with myosin modulators
por: Sewanan, Lorenzo R., et al.
Publicado: (2022)

Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant
por: Wang, Ling, et al.
Publicado: (2023)

A Case Report of a Rare Heterozygous Variant in the Desmin Gene Associated With Hypertrophic Cardiomyopathy and Complete Atrioventricular Block
por: Oka, Hideharu, et al.
Publicado: (2021)

The Feline Cardiomyopathies: 2. Hypertrophic cardiomyopathy
por: Kittleson, Mark D, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_nu710j854ucn68ag3qprnp2hb2