Cargando…

Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C

The phospholamban (PLN) R14del mutation is associated with arrhythmogenic right ventricular dysplasia (ARVD/C). ARVD/C is a cardiac disease characterized by arrhythmias and structural abnormalities in the right ventricle. Because PLN is a regulator of calcium release, this mutation can have deleteri...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vera, Carlos D., Manhas, Amit, Shenoy, Sushma P., Wheeler, Matthew T., Sallam, Karim, Wu, Joseph C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9476586/ https://www.ncbi.nlm.nih.gov/pubmed/35700631 http://dx.doi.org/10.1016/j.scr.2022.102834

Ejemplares similares

Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene
por: Jahng, James W.S., et al.
Publicado: (2021)

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations
por: Cao, Xu, et al.
Publicado: (2021)

Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants
por: Manhas, Amit, et al.
Publicado: (2022)

Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients
por: Caudal, Arianne, et al.
Publicado: (2022)

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene
por: Zanotti, Simona, et al.
Publicado: (2023)

Arrhythmogenic Right Ventricular Dysplasia (ARVD) With Protein Plakophilin-2 Mutation
por: Riasat, Maria, et al.
Publicado: (2022)

Surgical correction of tricuspid regurgitation in patients with ARVD/C
por: Katritsis, George, et al.
Publicado: (2015)

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

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

Phospholamban R14del disease: The past, the present and the future
por: Vafiadaki, Elizabeth, et al.
Publicado: (2023)

Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations
por: Zhang, Tina Tianbo, et al.
Publicado: (2022)

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations
por: Zhao, Shane Rui, et al.
Publicado: (2021)

Myofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy
por: Kumar, Mohit, 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)

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

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy
por: Karakikes, Ioannis, et al.
Publicado: (2015)

Review: Precision Medicine Approaches for Genetic Cardiomyopathy: Targeting Phospholamban R14del
por: Deiman, Frederik E., et al.
Publicado: (2022)

Contemporary Anti-Retroviral Drugs (ARVDs) Disrupt Follicular Development in Female Wistar Rats
por: Ohihoin, Aigbe Gregory, et al.
Publicado: (2023)

Prevalence and cardiac phenotype of patients with a phospholamban mutation
por: Hof, I. E., et al.
Publicado: (2018)

Generation of three iPSC lines from dilated cardiomyopathy patients carrying a pathogenic LMNA variant
por: Lee, Chelsea, et al.
Publicado: (2022)

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

Varied Presentation of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Case Series
por: Mishra, Dhananjay, et al.
Publicado: (2023)

Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy
por: Liu, Lichao, et al.
Publicado: (2021)

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
por: Cho, Sangkyun, et al.
Publicado: (2022)

Antisense Therapy Attenuates Phospholamban p.(Arg14del) Cardiomyopathy in Mice and Reverses Protein Aggregation
por: Eijgenraam, Tim R., et al.
Publicado: (2022)

Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy
por: Kamel, S. M., et al.
Publicado: (2021)

Impaired Right Ventricular Calcium Cycling Is an Early Risk Factor in R14del-Phospholamban Arrhythmias
por: Haghighi, Kobra, et al.
Publicado: (2021)

Cardiac Magnetic Resonance Imaging (MRI) Findings in Arrhythmogenic Right Ventricular Dysplasia (ARVD) Compared with Echocardiography
por: Motevali, Marzie, et al.
Publicado: (2018)

Comparison of the Structure and Function of Phospholamban and the Arginine-14 Deficient Mutant Associated with Dilated Cardiomyopathy
por: Hughes, Eleri, et al.
Publicado: (2014)

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)

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)

Optimal echocardiographic assessment of myocardial dysfunction for arrhythmic risk stratification in phospholamban mutation carriers( )
por: Taha, Karim, et al.
Publicado: (2021)

Negative Adrenergic Feedback Specific to Phospholamban
por: Hasenfuss, Gerd, et al.
Publicado: (2017)

Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing
por: Barndt, Robert J., et al.
Publicado: (2021)

The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy
por: Eijgenraam, Tim R., et al.
Publicado: (2020)

Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C.
por: Rovina, Davide, et al.
Publicado: (2020)

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)

Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers
por: van de Leur, Rutger R., et al.
Publicado: (2021)

Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy
por: Eijgenraam, Tim R., et al.
Publicado: (2020)

An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation
por: Rohner, Eduarde, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ar0rt3lg2ck2k5qmo0953vud7k