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#11. Novel frame-shift mutation in PKP2 associated with ...

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias ...

#12. PKP2 - an overview | ScienceDirect Topics

Plakophilin2 is a desmosomal protein found in the intercalated discs of cardiac cells. The human gene (PKP2), which encodes plakophilin2, is mutated in patients ...

#13. Clinical and Molecular Data Define a Diagnosis of ... - MDPI

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and ...

#14. New Insight into the Variable Expression of Arrhythmogenic ...

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy mostly caused by heterozygous desmosomal gene ...

#15. A large familial pathogenic Plakophilin-2 gene (PKP2 ...

Recent work has begun to implicate cardiomyopathy genes in “lone” atrial fibrillation (AF), suggesting that atrial cardiomyopathy may be a ...

#16. Update on Genes Associated with Arrhythmogenic ...

Arrhythmogenic cardiomyopathy is a rare genetic entity characterized by ... Concretely, the main gene associated with ACM is PKP2 , being responsible for ...

#17. Entry - #609040 - ARRHYTHMOGENIC RIGHT ... - OMIM

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9; ARVC9 ... (ARVC/D) is caused by heterozygous mutations in the PKP2 gene (602861), which encodes ...

#18. PKP2 Mutations in Sudden Death From Arrhythmogenic Right ...

For permissions, please e-mail: [email protected]. PKP2 Mutations in Sudden Death From Arrhythmogenic. Right Ventricular Cardiomyopathy (ARVC) and Sudden.

#19. PKP2 (Arrhythmogenic cardiomyopathy) - Gene

Arrhythmogenic cardiomyopathy. Gene: PKP2. Green List (high evidence). PKP2 (plakophilin 2) EnsemblGeneIds (GRCh38): ENSG00000057294 EnsemblGeneIds (GRCh37): ...

#20. PKP2

The PKP2 gene makes a protein which is found in the heart muscle. When this protein ... These include arrhythmogenic cardiomyopathy and.

#21. Atlas of Cardiac Genetic Variation - PKP2 in ARVC

The role of rare variants in PKP2 as causative mutations in Arrhythmogenic Right Ventricular Cardiomyopathy is described below. By comparing the frequency ...

#22. Homozygous truncating variant in PKP2 causes hypoplastic ...

Heterozygous variants in the PKP2 gene, encoding the desmosomal protein plakopholin-2, are associated with arrhythmogenic right ventricular cardiomyopathy.

#23. Human Gene PKP2 (ENST00000070846.11) from GENCODE ...

Description: Homo sapiens plakophilin 2 (PKP2), ... also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9).

#24. My heart will go on: patient-derived heart cells mimic disease ...

“Previous studies carried out in cardiomyocytes have shown that mutations in PKP2 play a pathological role in arrhythmogenic cardiomyopathy ...

#25. Epicardial differentiation drives fibro-fatty remodeling in ...

Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder often ... At day 80 of differentiation, PKP2 c.2013delC hiPSC-epicardial cells ...

#26. Relationship between PKP2 gene mutation and ... - CAB Direct

... of this study was to investigate the relationship between Plkophilin-2 (PKP2) gene mutation and arrhythmogenic right ventricular cardiomyopathy (ARVC).

#27. Genetics of Arrhythmogenic Right Ventricular Dysplasia ...

Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVDC), ... with ARVD/C can have gene changes in more than one gene (i.e. PKP2 and DSG2).

#28. Cardiac AAV:PKP2 Gene Transfer Prevents Development of ...

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease associated with ventricular arrhythmias and sudden cardiac death.

#29. Detection of genomic deletions of PKP2 in ... - ResearchGate

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease that predominantly affects the right ventricle and ...

#30. genes-11-00571.pdf - AIR Unimi

Abstract: Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease ...

#31. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia ...

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene · Summary and Pricing · Clinical Features and Genetics · Citations · Ordering/Specimens ...

#32. Pathogenic variants in plakophilin-2 gene (PKP2) are ... - X-MOL

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins.

#33. New model yields promising gene therapy for heart condition

Previous studies have established that defects in the PKP2 gene, which encodes the protein plakophilin-2, play a pathological role in the ...

#34. PKP2 Gene - GeneCards | PKP2 Protein | PKP2 Antibody

Diseases associated with PKP2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 and Arrhythmogenic Right Ventricular Cardiomyopathy.

#35. Exploring digenic inheritance in arrhythmogenic cardiomyopathy

Keywords: Digenic inheritance, Arrhythmogenic cardiomyopathy, Exome sequencing, ACM, PKP2. Background. Arrhythmogenic cardiomyopathy (ACM) is a genetic dis-.

#36. Familial Arrhythmogenic Cardiomyopathy: Clinical ... - MDPI

from the Swiss Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) ... For example, while pathogenic variants in PKP2 are usually ...

#37. SARS-CoV-2 protein Nsp1 alters actomyosin cytoskeleton and ...

Mutations in desmosomal Plakophilin-2 (PKP2) are the most prevalent drivers of arrhythmogenic cardiomyopathy (ACM) and a common cause of ...

#38. PKP2 | Clinvar - Cardiomyopathy Database - InStem

(?), deletion. Arrhythmogenic right ventricular cardiomyopathy. Likely pathogenic, MedGen:C0349788 Orphanet:ORPHA247 SNOMED CT:253528005 SNOMED CT:281170005, - ...

#39. Arrhythmogenic Right Ventricular Cardiomyopathy-Associated ...

A total of 327 P/LP desmosomal variants were identified in 322 unrelated ARVC probands. Of them, 88,4% were found in PKP2 (n=289), 5,2% in DSG2 ...

#40. Arrhythmogenic cardiomyopathy: Identification of desmosomal ...

Genetic screening of five desmosomal genes (DSG2, DSC2, JUP, PKP2, and DSP) in 23 patients with AC who underwent heart transplantation was ...

#41. Treatment modalities and prognosis of two arrhythmogenic ...

... ventricular cardiomyopathy patients with familial PKP2 mutations ... Arrhythmogenic right ventricular cardiomyopathy (ARVC) poses a ...

#42. Pkp2 (plakophilin 2) - Rat Genome Database

Located in adherens junction and intercalated disc. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and ...

#43. PKP2 | Test catalog - Invitae

The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205) and dilated cardiomyopathy ...

#44. ARVC (PKP2, DSG2, DSP, DSC2 and JUP genes - Orphanet

Molecular diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy - ARVC (PKP2, DSG2, DSP, DSC2 and JUP genes: mutation screening of the coding regions and ...

#45. PKP2 and DSG2 genetic variations in Latvian ... - ACARINDEX

Objective: The Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD-C) registry was established to determine the genetic background of ...

#46. Preliminary genealogical evidence for the Plakophilin-2 gene ...

Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a ... linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2).

#47. Clinical and Genetic Characterization of Patients with ...

Objectives: Arrhythmogenic right ventricular dysplasia/cardiomyopathy ... The purpose of this study was to examine a plakophilin-2 (PKP2) splice site ...

#48. Gene therapy composition and treatment of right ventricular ...

... prevent arrhythmogenic right ventricular cardiomyopathy (ARVC) by effecting the production of PKP2 protein by the cardiomyocytes of the human subject.

#49. New frameshift mutation found in PKP2 gene in ...

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) is a progressive myocardial disease that primarily affects the right ventricle.

#50. Clinical and Molecular Data Define a Diagnosis of ...

... Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation [2020] ... mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), ...

#51. Arrhythmogenic right ventricular cardiomyopathy: moving ... - JCI

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) is a ... mutations in the PKP2 gene in a large proportion of probands with ...

#52. Oxidized LDL‐dependent pathway as new pathogenic trigger ...

Arrhythmogenic cardiomyopathy (ACM) is hallmarked by ventricular ... By boosting oxLDL in a Pkp2 heterozygous knock-out mice through ...

#53. PKP2 - Curated Genes - ClinGen

Gene-Disease Validity · arrhythmogenic right ventricular cardiomyopathy · Arrhythmogenic Right Ventricular Cardiomyopathy GCEP · Definitive · 03/08/2018.

#54. Pleiotropic Phenotypes Associated With PKP2 Variants

Recently, alterations in thePkp2gene have been associated withdifferent inherited cardiac conditions including Arrythmogenic Cardiomyopathy (ACM orARVC), ...

#55. Medline ® Abstract for Reference 10 of 'Arrhythmogenic right ...

RESULTS Stable cardiac expression of mutant PKP2 (c.2203C>T), ... potential for study of the implication of diverse mutations in complex cardiomyopathies.

#56. Stop-Gain Mutations in PKP2 Are Associated with a Later Age ...

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a ... in 19 patients (13 in PKP2, 3 in DSG2, 2 in DSP, and 1 in DSC2).

#57. Plakophilin-2 Truncation Variants in Patients ... - Mayo Clinic

Background: Pathogenic variants in PKP2 cause arrhythmogenic right ventricular cardiomyopathy (ARVC). Recently, a cardiomyocyte-specific PKP2 knockout mouse ...

#58. PKP2 (plakophilin 2)

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 95. 24276085, 2014, The ...

#59. PKP2 - DECIPHER v11.15

Gene/disease association · Arrhythmogenic right ventricular cardiomyopathy Definitive; AD · Brugada syndrome 1 Disputed Evidence; AD · Catecholaminergic ...

#60. Variants in gene PKP2 - ClinVar Miner

Submitter pathogenic likely pathogenic uncertain significance likely benign benign Invitae 123 27 400 245 37 Color Health, Inc 16 4 305 202 26 GeneDx 74 27 88 99 79

#61. Arrhythmogenic Cardiomyopathy - Cohesion Phenomics

Genetics, Plakophilin (PKP2)- Individuals with mutations in PKP2 present at younger ages and are more likely to have malignant arrhythmias

#62. Mechanistic Insights and Therapeutic Approaches for ...

The desmosomal component plakophilin-2 (PKP2) is the most frequently mutated ... Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic ...

#63. PKP2 Gene | Encyclopedia MDPI

2. Health Conditions Related to Genetic Changes. 2.1. Arrhythmogenic right ventricular cardiomyopathy. More than 230 mutations in the PKP2 gene have been ...

#64. Pkp2 Mouse Gene Details | plakophilin 2

Phenotype data for mouse gene Pkp2. Discover Pkp2's significant phenotypes, expression, ... Left ventricular noncompaction cardiomyopathy, Left ventricular ...

#65. Genetic testing for arrhythmogenic cardiomyopathy (R133)

PKP2, DSP, DSG2, DSC2, and JUP are desmosomal genes and are established causes of autosomal dominant ARVC. The majority of variants of significance are point ...

#66. Genotype-phenotype correlation in arrhythmogenic right ...

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly ... we found PKP2 genotype to be more arrhythmic than DSC2/DSG2/DSP or ...

#67. Actionable secondary findings in arrhythmogenic right ...

data were analysed for pathogenic variants in the five selected ARVC (arrhythmogenic right ventricle cardiomyopathy) genes (DSC2, DSG2,. DSP, PKP2, TMEM43) ...

#68. PKP2 and DSG2 genetic variations in Latvian ... - RSU

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients · Field of Science* · Publication Type*.

#69. ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a progressive cardiac disorder caused by fatty ... have mutations in the DSP, PKP2, DSG2,.

#70. Truncating plakophilin-2 mutations in arrhythmogenic ...

BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac ... heterozygous for a PKP2 nonsense mutation, developed severe heart failure and ...

#71. Plakophilin-2 mutations as a cause of arrhythmogenic right ...

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a ... Plakophilin-2 (PKP2), a desmosomal protein, interacts with plakoglobin.

#72. PKP2 single gene test - Blueprint Genetics

Dilated Cardiomyopathy (DCM) Panel · Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel · Cardiomyopathy Panel · Comprehensive Cardiology Panel ...

#73. Digitala Vetenskapliga Arkivet - DiVA

Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.

#74. Genetic predisposition study of heart failure and its ...

Heart failure (HF) is a clinical condition distinguished by structural and ... Plakophilin 2 (PKP2) gene mutations are prevalent [79].

#75. Plakophilin-2 Truncation Variants in Patients Clinically ...

Pathogenic variants in PKP2 cause arrhythmogenic right ventricular cardiomyopathy (ARVC). Recently, a cardiomyocyte-specific PKP2 knockout mouse model ...

#76. Role of PKP2 in epicardial structure and function - Mario Delmar

Mutations in PKP2 associate with about 50% of cases of arrhythmogenic right ventricular cardiomyopathy (ARVC) of known genetic origin.

#77. 1599 - Genomic testing for the diagnosis of heritable ... - MSAC

Diagnostic genetic testing of affected individuals: Characterisation of germline gene variants for inherited cardiomyopathies, in patients ...

#78. Arrhythmogenic right ventricular cardiomyopathy presenting ...

1840delC in the PKP2 gene, causing protein truncation, diagnostic for ARVC. The father is a gene carrier, exhibiting only the ECG abnormalities. His extended ...

#79. Mutations of Plakophilin-2 in Chinese With Arrhythmogenic ...

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited ... Cardiomyopathy/PKP2 Mutations in Chinese With ARVD/C ...

#80. Contribution of exome sequencing for genetic diagnostic in ...

... Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2.

#81. Arrhythmogenic left ventricular cardiomyopathy - Heart (BMJ)

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart muscle disease characterised ... such as plakophilin (PKP2), desmoplakin (DSP), desmoglein (DSG2) and ...

#82. A CASE REPORT: PKP2 GENE C.1592T>G VARIATION IN ...

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy. Early recognition and follow up of this disease can reduce ...

#83. Search Human Diseases - PKP2 - MalaCards

P, ARR023, Arrhythmogenic Right Ventricular Dysplasia, Familial, 9, 48, 75.499. 2. ARR042, Arrhythmogenic Right Ventricular Cardiomyopathy, 61, 47.206.

#84. Tenaya bags $75M from stock sale as it prepares to put a ...

TN-201 addresses genetic hypertrophic cardiomyopathy caused by ... right ventricular cardiomyopathy caused by plakophilin 2 (PKP2) gene mutations.

#85. Current Concepts in Arrhythmogenic Cardiomyopathy, Second ...

Upper panels: M-mode echocardiogram images are presented of LV and RV in control (left), PKP2-cKO hearts at 21 DPI (middle), and 42 DPI (right).

#86. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

The PKP2 protein encoded by the PKP2 gene is the most common autosomal dominant mutations found in ARVC/D, and its prevalence can range from 7% ...

#87. Clinical Cardiogenetics - 第 95 頁 - Google 圖書結果

The cardiomyopathy of Carvajal syndrome was thought to have a ... mutations in the PKP2 gene are the most frequently observed in classic ARVD/C. Figure 6.3 ...

#88. Current Concepts in Arrhythmogenic Right Ventricular ...

In particular, we explored the relationship between PKP2 and the ... Studies 24 Current Concepts in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.

#89. Cardiomyopathy: What Is It, Types, Causes, Symptoms ...

Cardiomyopathy is a type of disease related to your heart muscle. It affects how your heart pumps blood. Some types are inherited and others ...

#90. Arrhythmogenic Cardiomyopathy (AC and ARVC)

Arrhythmogenic cardiomyopathy (AC) is a rare inherited heart muscle condition that causes irregular heart rhythms (arrhythmias) at a higher rate than other ...

#91. Arrhythmogenic RV Cardiomyopathy/Dysplasia: Recent Advances

[37] created a null mutation of the plakophilin-2 (PKP2) gene by homologous recombination in embryonic stem cells whereby an early stop of PKP2 translation ...

#92. Sudden Cardiac Death and Channelopathies

TABLE 1 | PKP2 variants reported in ClinVar related to different cardiac ... ACM 83 110 66 31 19 4 2 CV phenotype Cardiomyopathy HCM 6 2 1 1 1 DCM 1 ...

#93. Recent Advances in Stem Cells: From Basic Research to ...

D307H) 2012 [112] ular tachycardia DCM Cardiomyopathies TNTT2 p.R173W Fibroblast Sun et al., ... A324fsX335) PKP2 2013 [118] cardiomyopathy c.A148_151 (p.