關於 pkp2 gene mutation ，我們在網路上蒐集到這些相關的討論、資訊與評價

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

Mutations in PKP2 are most common ranging from 10 – 78 % in ARVC patients [6, 7]. The overall yield of a current generation genetic test for a ...

#12. PKP2

When this protein doesn't work properly, the heart can be weakened. Impact of PKP2 mutations. Individuals with a mutation in the PKP2 gene are ...

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

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

#14. Quantitative analysis of PKP2 and neighbouring genes in a ...

Most of the PKP2 mutations in our cohort resulted in a premature termination codon, which leads to nonsense-mediated decay and thereby ...

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

PKP2 TR mutations are the most common ARVC-related genetic variations, representing 52.5% of the total ARVC variants. They are responsible for ...

#16. 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 ...

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

“The cells with two mutated copies of PKP2 clearly exhibited reduced contractility and impaired desmosome assembly due to plakophilin-2 ...

#18. 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, ...

#19. Usefulness of Genetic Study by Next-generation Sequencing ...

The presence or absence of desmosomal mutations causing the disease and the ... The PKP2 gene mutation was associated with exclusively right ventricular ...

#20. The PKP2 gene homepage - Global Variome shared LOVD

Gene symbol, PKP2. Gene name, plakophilin 2. Chromosome, 12. Chromosomal band, p11. Imprinted, Unknown. Genomic reference, NG_009000.1.

#21. PKP2 Gene

COSMIC Cell Line Gene Mutation Profiles, cell lines with PKP2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.

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

Most of the ACM-linked pathogenic variants in the PKP2 gene have an ... Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy.

#23. Genetic Mutation Leads to AVCD - Stanford Health Care

Sassoubre had a mutation of the PKP2 gene, which normally makes a protein called plakophilin-2 found in heart muscle. In her case, however, ...

#24. [PDF] Identification of a PKP2 gene deletion in a family with ...

ARVC is a genetically determined disorder, usually caused by point mutations in components of the cardiac desmosome. Conventional mutation ...

#25. Plakophilin-2 gene mutation in Yunnan population with ...

Objective To study the desmosomal protein plakophilin-2(PKP2)gene mutation of arrhythmogenic right ventricular cardiomyopathy (ARVC) in different ...

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

It is conceivable that within certain patients and families, cardiomyopathy gene mutations may preferentially manifest with atrial rather ...

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

Next Generation Sequencing, new frame shift mutation, PKP2 gene, Russian family. Introduction. Arrhythmogenic right ventricular cardiomyopathy/dysplasia ...

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

In conclusion, 5 novel PKP2 mutations were identified in a cohort of ... Figure 1Scheme of PKP2 gene structure and position of mutations.

#29. PKP2 - Orphanet

Synonym(s) : Previous symbols and names : _; Type : gene with protein product ... Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ...

#30. 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 ...

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

PKP2 is an important desmosomal protein. Dominant mutations in PKP2 were reported in ~25–50% of patients with AC, suggesting that PKP2 is the ...

#32. 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 ...

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

In vitro mechanistic studies increasing wild-type or mutant PKP2 protein ... Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic ...

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

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

#35. PKP2 single gene test - Blueprint Genetics

PKP2 single gene test. Analysis methods. PLUS. Availability. Results in 3-4 weeks. Test code. S01429. CPT code *. 81406, 81406, 81479. Phenotype.

#36. Gene replacement therapy could help mend a broken heart ...

Given that PKP2 is the most common gene associated with arrhythmogenic cardiomyopathy, and that PKP2 mutations can lead to severe disease, new ...

#37. Genetic Variant Score and Arrhythmogenic Right Ventricular ...

... Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers ... among carriers of pathogenic or likely pathogenic PKP2 genetic variants.

#38. 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 ...

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

Heterozygous variants in the PKP2 gene, encoding the desmosomal protein plakopholin-2, ... Other compound heterozygous or homozygous mutations.

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

PKP2 Mutations in Sudden Death From Arrhythmogenic. Right Ventricular Cardiomyopathy (ARVC) and Sudden. Unexpected Death With Negative Autopsy (SUDNA).

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

How does a genetic mutation cause ARVD/C? · Plakophilin-2 (PKP2) · Desmoglein-2 (DSG2) · Desmocollin-2 (DSC2) · Desmoplakin (DSP) · Plakoglobin (JUP).

#42. 82109663.pdf - CORE

Heterozygous mutations in non-PKP 2 desmosomal genes occurred in 14 of ... contention that PKP2 is the major ARVC-causing gene,.

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

Often the pathogenesis is linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We extended investigations of the pathogenic PKP2 c.1162C ...

#44. Three-generation family with arrhythmogenic right ventricular ...

A mutation in plakophilin 2 ( PKP 2) is a frequent cause for ARVC. ... a new mutation in the PKP2 gene, the genotype-phenotype variation in ...

#45. Genetic testing in four Indian families with suspected Stick...

In addition to the mutation in the COL2A1 gene, a pathogenic heterozygous variant associated ... The proband harbored mutations in COL2A1 and PKP2 genes.

#46. Genetic Testing for Arrhythmogenic Right Ventricular ... - eviCore

ventricular involvement and PKP2 mutations more frequently associated with ... o Presence of a pathogenic gene mutation (considered a major criterion)2.

#47. ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy

have mutations in the DSP, PKP2, DSG2,. DSC2 or TMEM43 gene. Many cases of. ARVC are due to mutations in unknown genes. Molecular testing for ARVC consists.

#48. Indian Heart Journal - ScienceOpen

and 12 of plakophilin 2 (PKP2) gene in these patients. ... One patient had a splice site mutation in exon 12 of PKP2 gene and one patient died during ...

#49. Pleiotropic Phenotypes Associated With PKP2 ... - ReadCube

Recently, alterations in the Pkp2 gene have been associated with different ... sudden cardiac death,genetic mutation, cardiomyopathiesINTRODUCTIONThe recent ...

#50. Genotype-Phenotype Correlation: A Triple DNA Mutational ...

SS revealed two variants in the PKP2 gene, one was inherited from ... correlation; gene mutations in athletes. 1. Introduction.

#51. 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 ...

#52. Missense Mutations in Plakophilin-2 Cause Sodium Current ...

Can plakophilin-2 (PKP2) gene variants cause Brugada syndrome (BrS)?. Methods: Genetic analysis looking for PKP2 variants was performed in 200 ...

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

Twenty-six nonunique PKP2 variants were shared in these 230 AC ... other desmosomal genes but should be limited to PKP2 mutation carriers.

#54. High proportion of genetic cases in patients with advanced ...

identified a novel homozygous PKP2-gene mutation, which is associated with dilated cardiomyopathy. Material and methods. Study population.

#55. a case report: pkp2 gene c.1592t>g variation in homozygous

Genetic testing of the plakophilin 2 (PKP2) gene was ... development of ARVD is due to genetic mutations of desmosomal protein encoding genes (Corrado,.

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

About 30% of patients of Caucasian descent carry dominant mutations in the PKP2 gene. The majority of mutations result in aberrant or truncated protein ...

#57. Tenaya Therapeutics Receives Orphan Drug ... - Yahoo Finance

Mutations of the PKP2 gene can cause severe disease, including enlargement of the right ventricle in affected individuals, cardiac dysfunction, ...

#58. The human PKP2/plakophilin-2 gene is induced by Wnt/b

We also show that the PKP2 gene encoding the desmosomal protein ... mutations in both oncogenes and tumour suppressor genes.3,4.

#59. Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using ...

Patients were screened for genetic mutations, and outcomes over a median ... DCM patients with mutations in DSC2, DSG2, DSP, and PKP2, ...

#60. Wide Spectrum of Desmosomal Mutations in Danish ...

screened for mutations in all known desmosome genes (DSC2, DSG2, DSP, JUP, PKP2) and. TGFb3. Presence of genomic rearrangements was assessed by multiplex ...

#61. Arrhythmogenic Cardiomyopathy - Cohesion Phenomics

Genetics, Plakophilin (PKP2)- Individuals with mutations in PKP2 present at younger ... Disease Pathogenesis, The genes implicated in AC are components of ...

#62. Mutation spectrum in PKP2 and DSG2 genes in Russian ...

In 16 individuals screened for mutations in cardiac genes,. 12 variants were identified. ... Mutations in PKP2 and DSG2 genes account 37-80% of cases.

#63. Pkp2<tm1Wbm> Targeted Allele Detail MGI Mouse (MGI ...

Name: plakophilin 2; targeted mutation 1, Walter Birchmeier ; MGI ID: MGI:3487374 ; Gene: Pkp2 Location: Chr16:16031209-16090576 bp, + strand Genetic Position: ...

#64. ar ti cl e Mut at i on ofpl akophi lin 2 gene - MedNexus

Recent s t udi es have s hown that ARVC whi ch i s an inheritable genetic change resulls from ... W| e identified 5 heterozygous PKP2 mutations in 6 of the.

#65. PKP2 (plakophilin 2)

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 48 ...

#66. Plakophilin-2 truncating variants impair cardiac contractility by ...

proteins, of which the most commonly mutated gene is PKP2, which encodes the protein plakophilin-2 (PKP2) (3, 4).

#67. 搜索

Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated ... Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family ...

#68. 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, ...

#69. One Patient, Two Cardiomyopathies - SciELO

Genetic analysis found a heterozygous mutation on the PKP2 gene (p.Thr50Serfs*61), a pathogenic variant associated with arrhythmogenic RV ...

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

PKP2 is a protein found in the intercalated discs of cardiac desmosomes, intercellular mechanical junctions [144]. Furthermore, these protein ...

#71. Clinical and Molecular Data Define a Diagnosis ... - Agris (FAO)

Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in ... S183N mutation was found in a patient affected by Brugada syndrome (BS), ...

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

In around 50% of index patients, a genetic predisposition is demonstrated. ... Conclusions: This founder mutation in PKP2 is predicted to lead to the ...

#73. PKP2 | Test catalog - Invitae

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

#74. Circulation on Twitter: "#OriginalResearch Mutations of PKP2 ...

#OriginalResearch Mutations of PKP2 gene leads to the development of #ARVC via activation of the DNA damage response by disrupting the ...

#75. Missense Mutations in Plakophilin-2 Can Cause Brugada ...

We searched for PKP2 variants in genomic DNA of 200 patients with BrS diagnosis, no signs of AC, and no mutations in BrS-related genes SCN5A, CACNa1c, ...

#76. Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 disease

# Gene Type Significance ClinVarId dbSNP ID 1 PKP2 INDEL Pathogenic 239956 rs878854710 2 PKP2 DEL Pathogenic 254051 3 PKP2 DEL Pathogenic 417386

#77. tnya-ex991_6.htm

Presented preclinical data supporting both TN-201 and PKP2 gene therapy programs ... Mutations due to the PKP2 gene are the leading genetic cause of ARVC, ...

#78. CLINICAL CASE OF NON-COMPACTION ...

CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATION.

#79. A Rare Desmoglein-2 Gene Mutation in Arrhythmogenic Right ...

mutations in the transforming growth factor beta-3 (TGFB3), DSP, and PKP2 genes, and out of the 54 probands studied, DSG2 mutation had been ...

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

Here we report a patient with a clinical diagnosis of ARVC who was found to have a new frame shift mutation in the PKP2 gene through molecular genetic testing ...

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

Invariant from Tolerated), PolyPhen-2, Mutation Taster and MAPP. ... associated genes: PKP2, DSC2, DSG2, DSP and TMEM43. (Figure 2). In a first filter step ...

#82. 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, insertion/deletion ...

#83. Identification of a PKP2 gene deletion in a family with ... - ebsco

Conventional mutation screening of ARVC genes fails to detect causative mutations in about 50% of ... As no point mutations in PKP2 gene were identified.

#84. Advising a cardiac disease gene positive yet phenotype ...

Alongside the complete cardiac evaluation, genetic testing may be proposed ... that plakophilin-2 (PKP2) is the predominant gene mutation (31% of patients), ...

#85. PKP2 | Homo sapiens gene - Alliance of Genome Resources

Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic ...

#86. 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 ...

#87. Tenaya Therapeutics Receives Orphan Drug Designation from

Mutations of the PKP2 gene can cause severe disease, ... PKP2 mutations are the most common genetic cause of ARVC, estimated to represent ...

#88. Stem Cell Reports - Article

Loss-of-function mutations in PKP2, which encodes plakophilin-2, ... Adeno-associated virus-mediated gene replacement of PKP2 recovered.

#89. Tenaya Therapeutics Receives Orphan ... - StreetInsider.com

Mutations of the PKP2 gene can cause severe disease, ... PKP2 mutations are the most common genetic cause of ARVC, estimated to represent ...

#90. Cardiac Genetic Mutation May Not Always Predict Heart Disease

Researchers at Penn Medicine and Geisinger find only 5 percent of patients with a mutation of the TTN gene have dilated cardiomyopathy, ...

#91. PKP2 | Gene - VarSome

PKP2 | Gene results | VarSome, the Human Genomics Community.

#92. Tenaya Therapeutics Receives O - GuruFocus.com

Mutations of the PKP2 gene can cause severe disease, ... initiate a global non-interventional study of ARVC PKP2 gene mutation carriers by ...

#93. 2022-11-28 | NDAQ:TNYA | Press Release - Stockhouse

Mutations of the PKP2 gene can cause severe disease, ... initiate a global non-interventional study of ARVC PKP2 gene mutation carriers by ...

#94. Tenaya Therapeutics Receives Orphan Drug Designation

Mutations of the PKP2 gene can cause severe disease, ... initiate a global non-interventional study of ARVC PKP2 gene mutation carriers by ...

#95. Logic and Critical Thinking in the Biomedical Sciences: ...

A form of arrhythmogenic right ventricular cardiomyopathy/dysplasia is caused by a heterozygous mutations in the PKP2 gene, which encodes plakophilin-2, ...