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#1. Plakophilin-2 Mutations Are the Major Determinant of Familial ...
Background— Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC).
#2. A novel PKP2 mutation and intrafamilial phenotypic variability ...
Heterozygous mutation in PKP2 gene, encoding Plakophilin-2, is the common cause of ARVC/D (7-9). More than 200 mutations in PKP2 gene have been reported so far, ...
#3. Pathogenic variants in plakophilin-2 gene (PKP2) are ...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins.
#4. Plakophilin-2 is required for transcription of genes that control ...
Despite clear evidence that mutations in this molecule can cause ARVC in humans, fundamental knowledge related to the biology of PKP2 in adult ...
#5. Stop-Gain Mutations in PKP2 Are Associated with a ... - PLOS
ARVC is mainly caused by pathogenic mutations in genes encoding desmosomal proteins: plakophilin-2 (PKP2), desmoplakin (DSP), desmocolin-2 ...
#6. Novel frame-shift mutation in PKP2 associated with ...
We report a case of newly diagnosed ARVC where genetic testing identified a novel familial frame-shift mutation in the PKP2 gene.
#7. Plakophilin‐2 Gene Therapy Prevents Arrhythmogenic Right ...
Studies of PKP2 ARVC populations suggest that a majority of mutations impact PKP2 protein levels via diverse mechanisms (nonsense mutation, ...
#8. Quantitative analysis of PKP2 and neighbouring genes in a ...
Aims. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit ...
#9. New Insight into the Variable Expression of Arrhythmogenic ...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy mostly caused by heterozygous desmosomal gene ...
#10. PKP2 - an overview | ScienceDirect Topics
Mutations in PKP2 are responsible for 9–43% of cases according to various studies and are considered the most common genetic cause of ARVC, although one ...
#11. Genetics of Arrhythmogenic Right Ventricular Dysplasia ...
Patients with ARVD/C are commonly found to have genetic abnormalities in the genes that encode for these desmosomal proteins. When there is a mutation in ...
#12. Entry - #609040 - ARRHYTHMOGENIC RIGHT ... - OMIM
... that this form of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is caused by heterozygous mutations in the PKP2 gene (602861), ...
#13. Arrhythmogenic right ventricular cardiomyopathy - MedlinePlus
Learn more about the genes associated with Arrhythmogenic right ventricular cardiomyopathy · DES · DSC2 · DSP · JUP · LMNA · PKP2 · RYR2 · TGFB3 ...
#14. Relationship between PKP2 gene mutation and ... - CAB Direct
The results showed that, the mutation rate of PKP2 gene in ARVC group was 29.27%, which was obviously higher than control group (0%) (p<0.05); 7 ...
#15. Usefulness of Genetic Study by Next-generation Sequencing ...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited ... The PKP2 gene mutation was associated with exclusively right ventricular damage ...
#16. Pleiotropic Phenotypes Associated With PKP2 Variants
Recently, alterations in the Pkp2 gene have been associated with different ... cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations.
#17. 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 ...
#18. Three-generation family with arrhythmogenic right ventricular ...
A mutation in plakophilin 2 (PKP 2) is a frequent cause for ARVC. We describe a new mutation in the PKP2 gene, the genotype-phenotype variation in this ...
#19. Function of a novel plakophilin-2 mutation in the abnormal ...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a desmosomal ... a mutation in the PKP-2 gene in a Chinese patient with ARVC (12).
#20. Update on Genes Associated with Arrhythmogenic ...
Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise. J Am Coll Cardiol.
#21. ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy
Approximately 40% of ARVC patients will have mutations in the DSP, PKP2, DSG2,. DSC2 or TMEM43 gene. Many cases of. ARVC are due to mutations in unknown genes.
#22. PKP2 Mutations in Sudden Death From Arrhythmogenic Right ...
as 70% of the mutations linked to familial ARVC are in the gene coding for plakophilin-2 (PKP2),14 a 98-kDa desmosomal protein.
#23. Decreased Expression of Plakophilin-2 and αT-Catenin in ...
Up to 60% of ARVC patients have mutations in genes that encode desmosomal ... Moreover, the mouse CTNNA3 and PKP2 transcript levels were analyzed using a ...
#24. Arrhythmogenic right ventricular cardiomyopathy: moving ... - JCI
These findings led in turn to the discovery of dominant mutations in the PKP2 gene in a large proportion of probands with ARVC and not only ...
#25. Mechanistic Insights and Therapeutic Approaches for ...
ARVC is termed a “disease of the desmosome” as 30-60% of ARVC mutations ... plakophilin-2 (PKP2) is the most frequently mutated gene causal for ARVC and ...
#26. [PDF] Identification of a PKP2 gene deletion in a family with ...
Conventional mutation screening of ARVC genes fails to detect causative mutations in about 50% of index cases, suggesting a further genetic ...
#27. Genetic Variant Score and Arrhythmogenic Right Ventricular ...
Dive into the research topics of 'Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers'.
#28. Wide Spectrum of Desmosomal Mutations in Danish ...
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a lethal condition ... Genetic screening revealed a truncating PKP2 mutation (PKP2.
#29. Preliminary genealogical evidence for the Plakophilin-2 gene ...
Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a ... Probands and relatives were screened for the PKP2 c.1162C>T mutation using ...
#30. Arrhythmogenic Right Ventricular Cardiomyopathy-Associated ...
ARVC is a genetically determined cardiomyopathy caused mainly by rare ... desmosomal genes but should be limited to PKP2 mutation carriers.
#31. 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.
#32. Plakophilin-2 - Wikipedia
In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in ...
#33. Recurrent and founder mutations in the Netherlands ...
Mutations in the gene encoding the plakophilin-2 gene (PKP2) are detected in about 50% of ARVC/D patients. The p. Arg79X mutation in PKP2 has been ...
#34. Stop-Gain Mutations in PKP2 Are Associated with a Later Age ...
They all were screenedforPKP2, DSG2, DSC2, DSP, JUPandTMEM43genes. ... ARVC is mainly caused by pathogenic mutationsin genes encoding ...
#35. Familial Arrhythmogenic Cardiomyopathy: Clinical ... - MDPI
ARVC patients carry a genetic mutation [3], with the majority of genes coding ... For example, while pathogenic variants in PKP2 are usually ...
#36. 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.
#37. 82109663.pdf - CORE
Arrhythmogenic right ventricular cardiomyopathy, characterized by right ... Heterozygous mutations in non-PKP 2 desmosomal genes occurred in 14 of.
#38. Genetic Testing for Arrhythmogenic Right Ventricular ...
40% of ARVC has a genetic cause.4 Non-genetic causes include sarcoidosis and myocarditis.1 Mutations in the six common genes (DSC2, DSG2, DSP, JUP, PKP2, ...
#39. A large familial pathogenic Plakophilin-2 gene (PKP2 ...
Pathogenic mutations associated with arrhythmogenic right ventricular cardiomyopathy may manifest with isolated atrial phenotypes, potentially ...
#40. Arrhythmogenic Right Ventricular Cardiomyopathy - IMCRJ
The pathogenesis of ARVC is related to the mutation of the genes encoding ... Plakoglobin (JUP), Desmocollin 2 (DSC2), Plakophilin 2 (PKP2), ...
#41. Clinical phenotype and diagnosis of arrhythmogenic right ...
Fifty-three ARVC desmosomal gene mutation carriers (mean age 12.3 ± 3.9 years) were ... Screening for mutations in the plakophilin-2 (PKP2), ...
#42. Genotype-phenotype correlations in ARVC
Arrhythmogenic right ventricular cardiomyopathy is an unusual cardiomyopathy with ... The most commonly mutated ARVC gene is the PKP2 gene, ...
#43. Arrhythmogenic Right Ventricular Dysplasia (ARVD ... - Cureus
Plakoglobin is a key component of desmosomes and participates in maintaining tight cell-to-cell adhesions. The PKP-2 gene mutation is associated ...
#44. Mutations of Plakophilin-2 in Chinese With Arrhythmogenic ...
the majority of ARVD/C-causing genes encode desmosomal proteins. ... Figure 1Scheme of PKP2 gene structure and position of mutations.
#45. Stop-Gain Mutations in PKP2 Are Associated with a Later Age ...
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is ... Genetic analysis revealed a pathogenic mutation in 19 patients (13 ...
#46. Genetic Mutation Leads to AVCD - Stanford Health Care
... dangerous genetic mutation called ARVC, doctors at the Center for ... Sassoubre had a mutation of the PKP2 gene, which normally makes a ...
#47. Tenaya Therapeutics to Present Preclinical Data on TN-401 ...
Mutations of the PKP2 gene are the leading genetic cause of ARVC and can result in severe disease, including significant arrhythmia and ...
#48. 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.
#49. Cardiac Sympathetic Dysfunction in Genotyped Patients with ...
Patients with arrhythmogenic right ventricular cardiomyopathy ... Mutations in the gene encoding for plakophilin-2 (PKP-2) are the most ...
#50. Treatment modalities and prognosis of two arrhythmogenic ...
Keywords: Arrhythmogenic right ventricular cardiomyopathy, gene-phenotype, implantable cardiac devices implantation, PKP2 mutation, ...
#51. PKP2 Gene - GeneCards | PKP2 Protein | PKP2 Antibody
Diseases associated with PKP2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 and Arrhythmogenic Right Ventricular Cardiomyopathy. Among its ...
#52. Arrhythmogenic Right Ventricular Cardiomyopathy: The Role ...
We aim herein to identify causative gene mutations, present advancements in ... PKP2 is by far the most frequently involved gene in ARVC.
#53. Gene therapy composition and treatment of right ventricular ...
PKP2 is one among several genes which form part of the desmosomal protein complex and where mutations leading to ARVC have been identified.
#54. Genetic testing in four Indian families with suspected Stick...
4 was associated with ARVC, the patients and the father were advised relevant medical consultation. The PKP2 gene encodes the protein, plakophilin-2, that links ...
#55. Spectrum of desmosomal gene variations in patients ... - Elpub
disease are associated with desmosomal gene mutations. Aim. To study the prevalence of desmosomal forms of ARVC and to analyze variations in the PKP2, DSG2, ...
#56. Mutations in desmoglein-2 gene are associated with ...
METHODS AND RESULTS: In a series of 80 unrelated ARVC probands, 26 carried a mutation in DSP (16%), PKP2 (14%), and transforming growth factor-beta3 (2.5%) ...
#57. Missense Mutations in Plakophilin-2 Cause Sodium Current ...
The authors concluded that a PKP2 mutation can cause BrS. Perspective: Mutations known to cause ARVC are located most often in the PKP2 gene and ...
#58. Manuscript - ARVC Mutation Calling.pdf - DukeSpace
The overall yield of mutations among ARVC cases was 58% versus 16% in controls. ... rare causes of ARVC, the 3 desmosomal genes PKP2, DSP,.
#59. 32.13 Arrhythmogenic right ventricular cardiomyopathy: genetics
Indeed, two recent studies identified three gross deletions of the PKP2 gene in ARVC cases. 55,56 Other genetic causes of the disease may include mutations ...
#60. ADVANCES IN GENETICS: DOMINANT FORMS
The first identified ARVC/D gene in a dominant form was ryanodine receptor-2, ... and splice site mutations. ARVD9. 12p11.2. PKP2. Cell-cell adhesion.
#61. High proportion of genetic cases in patients with advanced ...
mogenic right ventricular cardiomyopathy (ARVC) [9] and genes coding for components of ... identified a novel homozygous PKP2-gene mutation, ...
#62. Genetic predisposition study of heart failure and its ...
Variants induce ARVC in genes that code for desmosomal proteins in almost 50% of all cases. Plakophilin 2 (PKP2) gene mutations are ...
#63. The genetic architecture of Plakophilin 2 cardiomyopathy
ventricular cardiomyopathy (ARVC).9,10 The PKP2 protein is part of ... myopathy/dysplasia-associated mutations from background genetic noise ...
#64. 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 ...
#65. Genetic Variant Score and Arrhythmogenic Right Ventricular ...
Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy. Phenotype in Plakophilin-2 Mutation Carriers. Svensson, Anneli; Platonov, Pyotr ...
#66. Arrhythmogenic right ventricular cardiomyopathy gene identified
Because mutations causing ARVC have been identified in PKP2 , plakoglobin, and desmoplakin, ARVC may be considered as a disease of the ...
#67. Actionable secondary findings in arrhythmogenic right ...
The ACMG recommended the return of pathogenic variants in five of these ARVC genes: DSC2, DSG2, DSP, PKP2 and TMEM43. Importantly, variants are less likely to ...
#68. 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 ...
#69. Exercise Triggers ARVC Phenotype in Mice Expressing a ...
Stable cardiac expression of mutant PKP2 (c.2203C>T), encoding the R735X mutant protein, was achieved 4 weeks after a single AAV9-R735X ...
#70. Medline ® Abstract for Reference 10 of 'Arrhythmogenic right ...
... evaluated the impact of exercise on ARVC cardiac manifestations in mice after adeno-associated virus (AAV)-mediated gene delivery of mutant human PKP2, ...
#71. A combinatorial oligogenic basis for the phenotypic plasticity ...
Notably, LPVs in the DSP and PKP2 genes, which are known genes for ARVC, ... ends of the phenotypic spectrum of the cardiac response to genetic mutations.
#72. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia ...
Arrhythmogenic Right Ventricular Cardiomyopathy /Dysplasia via the PKP2 Gene ... However, if full gene Sanger sequencing is desired for STAT turnaround time, ...
#73. Desmin Mutations and Arrhythmogenic Right Ventricular ...
We screened 91 ARVC index cases (53 negative for mutations in desmosomal genes and an additional 38 carrying desmosomal gene mutations) for ...
#74. Tenaya bags $75M from stock sale as it prepares to put a ...
... while TN-401 is another gene therapy targeted at genetic arrhythmogenic right ventricular cardiomyopathy caused by plakophilin 2 (PKP2) gene mutations.
#75. Stop-gain mutations in PKP2 are associated with a later age of onset ...
Up to 60% of ARVC patients carry at least one mutation in one of these genes [9]. Genetic series have reported that 30%–40% carry a pathogenic mutation in the ...
#76. ARVC – Arrhythmogenic Right Ventricular Cardiomyopathy
If a specific genetic mutation has been identified as the cause of ARVC in an individual, family members can be tested for this same mutation with a blood ...
#77. Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Mutations in genes encoding desmosomal proteins (which are important in cell to cell adhesion) play a key role the pathogenesis.
#78. Arrhythmogenic Right Ventricular Dysplasia (ARVD) - LITFL.com
Autosomal dominant genetic disorder of myocardium in which there is fatty ... ARVD causes symptoms due to ventricular ectopic beats or ...
#79. Visions of Cardiomyocyte: Fundamental Concepts of Heart Life ...
ARVC is caused by mutations in genes encoding desmosomal proteins such as ... ARVC hiPSC-CMs harboring a plakophilin 2 (PKP2) gene mutation mimicked the ...
#80. Compendium on Cardiomyopathies - Basics, Therapeutics, and ...
Sensitive and Specific markers of PKP2 and plakoglobin mutation carriers in ARVC ... Mutations in this gene are the cause of ARVC and also DCM [65, 66].
#81. Textbook of Echocardiography - 第 827 頁 - Google 圖書結果
Most patients (50%) diagnosed with ARVC carry a pathogenic mutation in desmosomal genes, including desmoplakin (DSP), plakophilin-2 (PKP2), desmoglein-2 ...
#82. Cardiovascular Genetics and Genomics for the Cardiologist
Table 4.2 summarizes related loci and identified gene mutations in various types of ARVC. Cardiac ryanodine receptor 2 mutations Mutation in RyR2 has been ...
#83. J Wave Syndromes: Brugada and Early Repolarization Syndromes
The ARVC phenotype usually occurs during adolescence or young adulthood and is preceded by a clinically “concealed phase” during which DS-gene mutation ...
#84. Braunwald's Heart Disease E-Book: A Textbook of ...
Whether distinct mutations in these genes are associated with clinical expression is unknown. Disease Mechanism Experimental models of ARVD indicate that ...
#85. Handbook of Clinical Adult Genetics and Genomics: A ...
Overview Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized ... The most common gene implicated is PKP2, which codes for plakophilin 2.
#86. International Review of Cytology: A Survey of Cell Biology
Furthermore, PKP2 mutations were reported with almost identical clinical ... of ARVC by examining their levels and localization in the different genetic ...
#87. Oxford Desk Reference: Cardiology - 第 383 頁 - Google 圖書結果
Genetic testing Mode of inheritance is predominantly AD with a reduced ... (DSG2) and plakophilin-2 (PKP2) each cause 10–40% of ARVC/D. • AD mutations in ...
pkp2 gene mutation arvc 在 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 的推薦與評價
Mutations in genes encoding desmosomal proteins (which are important in cell to cell adhesion) play a key role the pathogenesis. ... <看更多>