Cargando…

Pleiotropic Phenotypes Associated With PKP2 Variants

Plakophilin-2 (PKP2) is a component of the desmosome complex and known for its role in cell-cell adhesion. Recently, alterations in the Pkp2 gene have been associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy (ACM or ARVC), Brugada syndrome (BrS), and idiopat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Novelli, Valeria, Malkani, Kabir, Cerrone, Marina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Cardiovascular Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305316/ https://www.ncbi.nlm.nih.gov/pubmed/30619891 http://dx.doi.org/10.3389/fcvm.2018.00184

Ejemplares similares

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

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

Transcriptomic Coupling of PKP2 With Inflammatory and Immune Pathways Endogenous to Adult Cardiac Myocytes
por: Pérez-Hernández, Marta, et al.
Publicado: (2021)

Pleiotropic effect of sodium-glucose cotransporter 2 inhibitors on blood pressure
por: Kao, Ting-Wei, et al.
Publicado: (2022)

Ivabradine and Blood Pressure Reduction: Underlying Pleiotropic Mechanisms and Clinical Implications
por: Simko, Fedor, et al.
Publicado: (2021)

Mendelian Randomization Integrating GWAS, eQTL, and mQTL Data Identified Genes Pleiotropically Associated With Atrial Fibrillation
por: Liu, Yaozhong, et al.
Publicado: (2021)

Determination of Pleiotropic Effect of Warfarin in VKORC1 and CYP2C9 Genotypes in Patients With Heart Valve Replacement
por: Shafique, Huma, et al.
Publicado: (2022)

Editorial: Current Challenges in Cardiovascular Molecular Diagnostics
por: Novelli, Valeria, et al.
Publicado: (2017)

Trpc6 Promotes Doxorubicin-Induced Cardiomyopathy in Male Mice With Pleiotropic Differences Between Males and Females
por: Norton, Nadine, et al.
Publicado: (2022)

Editorial: The role of genetics and non-coding RNAs in atrial fibrillation
por: Novelli, Valeria, et al.
Publicado: (2022)

A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
por: Mahdieh, Nejat, et al.
Publicado: (2018)

Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?
por: Novelli, Valeria, et al.
Publicado: (2016)

Impact of Sacubitril/Valsartan on surfactant binding proteins, central sleep apneas, lung function tests and heart failure biomarkers: Hemodynamic or pleiotropism?
por: Mapelli, Massimo, et al.
Publicado: (2022)

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)

MicroRNAs hsa-miR-618 and hsa-miR-297 Might Modulate the Pleiotropic Effects Exerted by Statins in Endothelial Cells Through the Inhibition of ROCK2 Kinase: in-silico Approach
por: Leal, Karla, et al.
Publicado: (2021)

Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation
por: Clausen, Alexander Guldmann, et al.
Publicado: (2021)

Low Molecular Weight Apolipoprotein(a) Phenotype Rather Than Lipoprotein(a) Is Associated With Coronary Atherosclerosis and Myocardial Infarction
por: Afanasieva, Olga I., et al.
Publicado: (2022)

Associations of ATP-Sensitive Potassium Channel’s Gene Polymorphisms With Type 2 Diabetes and Related Cardiovascular Phenotypes
por: Liu, Cheng, et al.
Publicado: (2022)

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients
por: Baban, Anwar, et al.
Publicado: (2023)

The “Super-Fontan” Phenotype: Characterizing Factors Associated With High Physical Performance
por: Tran, Derek L., et al.
Publicado: (2021)

Association of IL1R1 Coding Variant With Plasma-Level Soluble ST2 and Risk of Aortic Dissection
por: Jiang, Wenxi, et al.
Publicado: (2021)

Association of Genetic Variants at TRPC6 With Chemotherapy-Related Heart Failure
por: Norton, Nadine, et al.
Publicado: (2020)

Senescence-Associated Secretory Phenotype as a Hinge Between Cardiovascular Diseases and Cancer
por: Banerjee, Priyanka, et al.
Publicado: (2021)

Adverse Outcome in COVID-19 Is Associated With an Aggravating Hypo-Responsive Platelet Phenotype
por: Schrottmaier, Waltraud C., et al.
Publicado: (2021)

Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report
por: Blokhina, Anastasia V., et al.
Publicado: (2022)

The atrial secondary tricuspid regurgitation is associated to more favorable outcome than the ventricular phenotype
por: Gavazzoni, Mara, et al.
Publicado: (2022)

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding
por: Almazni, Ibrahim, et al.
Publicado: (2019)

Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis
por: Shabani, Mahsima, et al.
Publicado: (2022)

Impact of a NDUFC2 Variant on the Occurrence of Acute Coronary Syndromes
por: Gallo, Giovanna, et al.
Publicado: (2022)

Associations of Meat and Fish Consumption With Conventional and Radiomics Cardiovascular Magnetic Resonance Phenotypes in the UK Biobank
por: Raisi-Estabragh, Zahra, et al.
Publicado: (2021)

Association between hypertriglyceridemic-waist phenotype and cardiovascular disease: A cohort study and meta-analysis
por: Zheng, Xiaowei, et al.
Publicado: (2022)

Corrigendum: The atrial secondary tricuspid regurgitation is associated to more favorable outcome than the ventricular phenotype
por: Gavazzoni, Mara, et al.
Publicado: (2023)

Associations of Serum Uromodulin and Its Genetic Variants With Blood Pressure and Hypertension in Chinese Adults
por: Wang, Yang, et al.
Publicado: (2021)

Cell Phenotype Transitions in Cardiovascular Calcification
por: Hortells, Luis, et al.
Publicado: (2018)

The Role of AI in Characterizing the DCM Phenotype
por: Asher, Clint, et al.
Publicado: (2021)

Common Variants Associated With OSMR Expression Contribute to Carotid Plaque Vulnerability, but Not to Cardiovascular Disease in Humans
por: van Keulen, Danielle, et al.
Publicado: (2021)

PRDX2 Protects Against Atherosclerosis by Regulating the Phenotype and Function of the Vascular Smooth Muscle Cell
por: Li, Jing, et al.
Publicado: (2021)

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing
por: Pohl, Greta Marie, et al.
Publicado: (2023)

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

Cannot write session to /tmp/vufind_sessions/sess_vbhrg0ouf4ib6ji3b47qkqqnne