Cargando…

Exploring the Correlation Between Fibrosis Biomarkers and Clinical Disease Severity in PLN p.Arg14del Patients

Background: Pathogenic variants in phospholamban (PLN, like p. Arg14del), are found in patients diagnosed with arrhythmogenic (ACM) and dilated cardiomyopathy (DCM). Fibrosis formation in the heart is one of the hallmarks in PLN p.Arg14del carriers. During collagen synthesis and breakdown, propeptid...

Descripción completa

Detalles Bibliográficos
Autores principales:	van der Voorn, Stephanie M., Bourfiss, Mimount, te Riele, Anneline S. J. M., Taha, Karim, Vos, Marc A., de Brouwer, Remco, Verstraelen, Tom E., de Boer, Rudolf A., Remme, Carol Ann, van Veen, Toon A. B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Cardiovascular Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793805/ https://www.ncbi.nlm.nih.gov/pubmed/35097021 http://dx.doi.org/10.3389/fcvm.2021.802998

Ejemplares similares

The phospholamban (PLN) p.Arg14del risk model; Longitudinal validation and reevaluation of predictors regarding sudden cardiac death (SCD)
por: Van Der Heide, M Y C, et al.
Publicado: (2023)

Circulating Biomarkers of Fibrosis Formation in Patients with Arrhythmogenic Cardiomyopathy
por: van der Voorn, Stephanie M., et al.
Publicado: (2023)

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
por: Cuello, Friederike, et al.
Publicado: (2021)

A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers
por: de Brouwer, Remco, et al.
Publicado: (2023)

Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes
por: Badone, Beatrice, et al.
Publicado: (2021)

Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
por: van Lint, Freyja H. M., et al.
Publicado: (2023)

Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction
por: Verstraelen, Tom E, et al.
Publicado: (2021)

Arrhythmogenic cardiomyopathy: pathogenesis, pro-arrhythmic remodelling, and novel approaches for risk stratification and therapy
por: van der Voorn, Stephanie M, et al.
Publicado: (2020)

Towards automatic classification of cardiovascular magnetic resonance Task Force Criteria for diagnosis of arrhythmogenic right ventricular cardiomyopathy
por: Bourfiss, Mimount, et al.
Publicado: (2022)

Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant?: Pro: Provide pre-emptive treatment to asymptomatic carriers
por: de Boer, Rudolf A.
Publicado: (2023)

Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy
por: Driessen, Helen E., et al.
Publicado: (2021)

A head-to-head comparison of speckle tracking echocardiography and feature tracking cardiovascular magnetic resonance imaging in right ventricular deformation
por: Taha, Karim, et al.
Publicado: (2020)

Deep neural network-based clustering of deformation curves reveals novel disease features in PLN pathogenic variant carriers
por: Taha, Karim, et al.
Publicado: (2023)

Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)–Related Cardiomyopathy: Development of PLN-R14del–Related Cardiomyopathy
por: Eijgenraam, Tim R., et al.
Publicado: (2021)

Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
por: Watanabe, Daisuke, et al.
Publicado: (2023)

Cardiac MRI to guide heart failure and atrial fibrillation drug discovery: a Mendelian randomization analysis
por: Schmidt, Amand, et al.
Publicado: (2023)

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy
por: van der Zwaag, P. A., et al.
Publicado: (2013)

The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy
por: van der Heijden, J. F., et al.
Publicado: (2013)

Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance
por: Nabavi Nouri, Maryam, et al.
Publicado: (2018)

Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series
por: Tabata, Tomoka, et al.
Publicado: (2021)

High Resolution Systematic Digital Histological Quantification of Cardiac Fibrosis and Adipose Tissue in Phospholamban p.Arg14del Mutation Associated Cardiomyopathy
por: Gho, Johannes M. I. H., et al.
Publicado: (2014)

Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant?: Con: Do no harm to asymptomatic carriers
por: Doevendans, Pieter A.
Publicado: (2023)

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
por: Bourfiss, Mimount, et al.
Publicado: (2022)

Structural and Population-Based Evaluations of TBC1D1 p.Arg125Trp
por: Richardson, Tom G., et al.
Publicado: (2013)

TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence
por: Seidinger, Ana L., et al.
Publicado: (2020)

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals
por: Yamamoto, Jumpei, et al.
Publicado: (2021)

Risk stratification and subclinical phenotyping of dilated and/or arrhythmogenic cardiomyopathy mutation-positive relatives: CVON eDETECT consortium
por: Roudijk, R. W., et al.
Publicado: (2021)

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13
por: Subramony, SH, et al.
Publicado: (2013)

Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His
por: Shteinberg, Michal, et al.
Publicado: (2017)

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder
por: Strauss, Kevin A., et al.
Publicado: (2014)

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function
por: Proietti Onori, Martina, et al.
Publicado: (2018)

Feature tracking CMR reveals abnormal strain in preclinical arrhythmogenic right ventricular dysplasia/ cardiomyopathy: a multisoftware feasibility and clinical implementation study
por: Bourfiss, Mimount, et al.
Publicado: (2017)

DNA binding kinetics of two response regulators, PlnC and PlnD, from the bacteriocin regulon of Lactobacillus plantarum C11
por: Straume, Daniel, et al.
Publicado: (2009)

Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators
por: Railean, Violeta, et al.
Publicado: (2023)

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation
por: Hwang, Ji-won, et al.
Publicado: (2017)

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
por: Antoniutti, Guido, et al.
Publicado: (2022)

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
por: Sriprakoon, Vachiravit, et al.
Publicado: (2022)

PlnTFDB: an integrative plant transcription factor database
por: Riaño-Pachón, Diego Mauricio, et al.
Publicado: (2007)

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations
por: Truszkowska, Grażyna T, et al.
Publicado: (2015)

The p.Arg63Trp polymorphism controls Vav1 functions and Foxp3 regulatory T cell development
por: Colacios, Céline, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_i3id5n1h5gf6smtnsiao09v5o4