Cargando…

Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50

Arrhythmogenic Cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias and fibro-fatty replacement in the ventricular myocardium. Causative mutations are mainly reported in desmosomal genes, especially in plakophilin2 (PKP2). Here, using a virus-free reprogramming approach,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ermon, Benedetta, Volpato, Claudia B., Cattelan, Giada, Silipigni, Rosamaria, Di Segni, Marina, Cantaloni, Chiara, Casella, Michela, Pramstaller, Peter P., Pompilio, Giulio, Sommariva, Elena, Meraviglia, Viviana, Rossini, Alessandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189521/ https://www.ncbi.nlm.nih.gov/pubmed/30219716 http://dx.doi.org/10.1016/j.scr.2018.09.003

Ejemplares similares

Exploring digenic inheritance in arrhythmogenic cardiomyopathy
por: König, Eva, et al.
Publicado: (2017)

Metabolic Signature of Arrhythmogenic Cardiomyopathy
por: Volani, Chiara, et al.
Publicado: (2021)

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation
por: Persampieri, Simone, et al.
Publicado: (2020)

The arrhythmogenic cardiomyopathy-specific coding and non-coding transcriptome in human cardiac stromal cells
por: Rainer, Johannes, et al.
Publicado: (2018)

Arrhythmogenic Cardiomyopathy: the Guilty Party in Adipogenesis
por: Stadiotti, Ilaria, et al.
Publicado: (2017)

Fibrosis in Arrhythmogenic Cardiomyopathy: The Phantom Thread in the Fibro-Adipose Tissue
por: Maione, Angela Serena, et al.
Publicado: (2020)

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant
por: Bos, Thomas A., et al.
Publicado: (2023)

Cardiac Biomarkers and Autoantibodies in Endurance Athletes: Potential Similarities with Arrhythmogenic Cardiomyopathy Pathogenic Mechanisms
por: Stadiotti, Ilaria, et al.
Publicado: (2021)

Cyclophilin A in Arrhythmogenic Cardiomyopathy Cardiac Remodeling
por: Rurali, Erica, et al.
Publicado: (2019)

Expression of Plakophilins (PKP1, PKP2, and PKP3) in Gastric Cancers
por: Demirag, Guzin G, et al.
Publicado: (2011)

Cell models of arrhythmogenic cardiomyopathy: advances and opportunities
por: Sommariva, Elena, et al.
Publicado: (2017)

Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes
por: De Bortoli, Marzia, et al.
Publicado: (2023)

Patient-specific primary and pluripotent stem cell-derived stromal cells recapitulate key aspects of arrhythmogenic cardiomyopathy
por: Maione, Angela Serena, et al.
Publicado: (2023)

GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy
por: Volani, Chiara, et al.
Publicado: (2022)

PB2569: ALAS! PORPHYRIA OR SIDEROBLASTIC ANEMIA? A CASE REPORT
por: Catana, Alina, et al.
Publicado: (2023)

Oxidized LDL‐dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy
por: Sommariva, Elena, et al.
Publicado: (2021)

Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy
por: Sommariva, E., et al.
Publicado: (2016)

Basic and clinical immunology – 3018. Immunocap vs. skin prick testing for inhalant allergens
por: Kumar, Prem, et al.
Publicado: (2013)

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy
por: Alcalde, Mireia, et al.
Publicado: (2014)

Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report
por: Trenkwalder, Teresa, et al.
Publicado: (2015)

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients
por: Bidina, Luize, et al.
Publicado: (2018)

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy
por: Biernacka, Elżbieta K., et al.
Publicado: (2021)

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients
por: Lippi, Melania, et al.
Publicado: (2022)

Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
por: Pilato, Chiara Assunta, et al.
Publicado: (2018)

Excess TGF-β1 Drives Cardiac Mesenchymal Stromal Cells to a Pro-Fibrotic Commitment in Arrhythmogenic Cardiomyopathy
por: Maione, Angela Serena, et al.
Publicado: (2021)

Endomyocardial Biopsy: The Forgotten Piece in the Arrhythmogenic Cardiomyopathy Puzzle
por: Casella, Michela, et al.
Publicado: (2021)

Calcium as a Key Player in Arrhythmogenic Cardiomyopathy: Adhesion Disorder or Intracellular Alteration?
por: Moccia, Francesco, et al.
Publicado: (2019)

Ca(2+) dysregulation in cardiac stromal cells sustains fibro-adipose remodeling in Arrhythmogenic Cardiomyopathy and can be modulated by flecainide
por: Maione, Angela S., et al.
Publicado: (2022)

2569. The Gut Microbiome and Acute Graft vs. Host Disease Risk in Hematopoietic Stem Cell Transplantation Recipients
por: Ilett, Emma E, et al.
Publicado: (2019)

2569. Pharmacokinetic-Pharmacodynamic Evaluation of Sulopenem Using a Five-Day Hollow-Fiber In Vitro Infection Model
por: VanScoy, Brian D, et al.
Publicado: (2023)

Pleiotropic Phenotypes Associated With PKP2 Variants
por: Novelli, Valeria, et al.
Publicado: (2018)

Inflammation in the Pathogenesis of Arrhythmogenic Cardiomyopathy: Secondary Event or Active Driver?
por: Meraviglia, Viviana, et al.
Publicado: (2021)

Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction
por: Leone, Maria Pia, et al.
Publicado: (2021)

The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain
por: Robles-Mezcua, Ainhoa, et al.
Publicado: (2023)

Mechanotransduction and Adrenergic Stimulation in Arrhythmogenic Cardiomyopathy: An Overview of in vitro and in vivo Models
por: Beffagna, Giorgia, et al.
Publicado: (2020)

Correction to Lancet HIV 2020; published online Jan 14. https://doi.org/10.1016/S2352-3018(19)30378-9
Publicado: (2020)

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)

Graft-size selection and anisometropia reduction in penetrating keratoplasty (PKP)
por: Koo, Ellen H., et al.
Publicado: (2019)

Analysis of clinical efficacy after PKP in patients of different genders
por: Yang, Bo, et al.
Publicado: (2022)

MiR-320a as a Potential Novel Circulating Biomarker of Arrhythmogenic CardioMyopathy
por: Sommariva, Elena, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_p9enuq614o2thebvnhmkug09nr