The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, ... ... <看更多>
「pkp2 mutation」的推薦目錄：
pkp2 mutation 在 5318 - Gene ResultPKP2 plakophilin 2 [ (human)] - NCBI 的相關結果
PKP2 mutation in arrhythmogenic right ventricular dysplasia/cardiomyopathy(ARVD/C) correlates with earlier onset of symptoms and arrhythmia. ... <看更多>
pkp2 mutation 在 Plakophilin-2 - Wikipedia 的相關結果
Mutations in PKP2 have been associated with, have been shown to cause, and are considered common in arrhythmogenic right ventricular cardiomyopathy, which is ... ... <看更多>
pkp2 mutation 在 Phenotypic Variability of a Pathogenic PKP2 Mutation in an ... 的相關結果
Mutations in the PKP2 gene, whose gene–phenotype relationships are available in Online Mendelian Inheritance in Man as OMIM * 602861, ... ... <看更多>
pkp2 mutation 在 Pathogenic variants in plakophilin-2 gene (PKP2) are ... 的相關結果
ARVC patients with PKP2 mutation are less likely to present left ventricular involvement and heart failure symptoms. Combined endpoint of death ... ... <看更多>
pkp2 mutation 在 PKP2 - an overview | ScienceDirect Topics 的相關結果
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 ... ... <看更多>
pkp2 mutation 在 Stop-Gain Mutations in PKP2 Are Associated with a Later Age ... 的相關結果
Type of mutation. PKP2TR mutations are the most common ARVC-related genetic variations, representing 52.5% of the total ARVC variants. They are ... ... <看更多>
pkp2 mutation 在 Novel frame-shift mutation in PKP2 associated with ... 的相關結果
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 ... ... <看更多>
pkp2 mutation 在 Medline ® Abstract for Reference 46 of '致心律失常性右室心肌 ... 的相關結果
CONCLUSIONS Our study highlights the clinical relevance of PKP2 mutations in ARVD/C. Presence of a PKP2 mutation in ARVD/C correlates with earlier onset of ... ... <看更多>
pkp2 mutation 在 Plakophilin-2 is required for transcription of genes that control ... 的相關結果
Mutations in human PKP2 associate with a life-threatening arrhythmogenic cardiomyopathy, often of right ventricular predominance. Here, we use a ... ... <看更多>
pkp2 mutation 在 PKP2 Gene - GeneCards | PKP2 Protein | PKP2 Antibody 的相關結果
PKP2 (Plakophilin 2) is a Protein Coding gene. Diseases associated with PKP2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 and ... ... <看更多>
pkp2 mutation 在 Entry - *602861 - PLAKOPHILIN 2; PKP2 - OMIM 的相關結果
PLAKOPHILIN 2; PKP2. HGNC Approved Gene Symbol: PKP2. Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:32,790,755-32,896,777 (from NCBI). ... <看更多>
pkp2 mutation 在 A novel PKP2 mutation and intrafamilial phenotypic variability in ... 的相關結果
In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, ... ... <看更多>
pkp2 mutation 在 Clinical and Molecular Data Define a Diagnosis of ... - MDPI 的相關結果
Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by ... ... <看更多>
pkp2 mutation 在 The PKP2 gene homepage - Global Variome shared LOVD 的相關結果
Gene symbol, PKP2. Gene name, plakophilin 2. Chromosome, 12. Chromosomal band, p11. Imprinted, Unknown. Genomic reference, NG_009000.1. ... <看更多>
pkp2 mutation 在 Plakophilin‐2 Gene Therapy Prevents Arrhythmogenic Right ... 的相關結果
PKP2 homozygous mutant (PKP2 Hom) mice are viable at birth yet display adult hallmarks of ARVC including ventricular arrhythmias, right and left ... ... <看更多>
pkp2 mutation 在 New Insight into the Variable Expression of Arrhythmogenic ... 的相關結果
Plakophilin 2 (PKP2) is the major disease-causing gene, accounting for 50–90% of mutation-positive patients [1,2]. ... <看更多>
pkp2 mutation 在 PKP2 Mutations in Sudden Death From Arrhythmogenic Right ... 的相關結果
Mutation damage prediction was made using Mutation Taster, Polyphen and SIFT software. In 6 of the 25 ARVC samples, 6 PKP2 mutations were ... ... <看更多>
pkp2 mutation 在 Genetic Mutation Leads to AVCD - Stanford Health Care 的相關結果
Sassoubre had a mutation of the PKP2 gene, which normally makes a protein called plakophilin-2 found in heart muscle. In her case, however, ... ... <看更多>
pkp2 mutation 在 Usefulness of Genetic Study by Next-generation Sequencing ... 的相關結果
A pathogenic or probably pathogenic desmosomal mutation was detected in 26 of ... The PKP2 gene mutation was associated with exclusively right ventricular ... ... <看更多>
pkp2 mutation 在 Molecular disturbance underlies to arrhythmogenic ... 的相關結果
Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for >40% of all known mutations, generally causing a truncated protein. In a PKP2-truncated ... ... <看更多>
pkp2 mutation 在 Gene replacement therapy could help mend a broken heart ... 的相關結果
Given that PKP2 is the most common gene associated with arrhythmogenic cardiomyopathy, and that PKP2 mutations can lead to severe disease, new ... ... <看更多>
pkp2 mutation 在 Clinical and Genetic Characterization of Patients with ... 的相關結果
Conclusions: This founder mutation in PKP2 is predicted to lead to the ... suggesting that PKP2 mutations alone are not sufficient to cause disease, ... ... <看更多>
pkp2 mutation 在 Cardiac AAV:PKP2 Gene Therapy Reduces 的相關結果
~70K patients with PKP2 mutations in ... PKP2 Mutation is Associated with Reduction of Protein ... Loss of Desmosomes in PKP2-mutated Human Heart. ... <看更多>
pkp2 mutation 在 A large familial pathogenic Plakophilin-2 gene (PKP2 ... 的相關結果
It is conceivable that within certain patients and families, cardiomyopathy gene mutations may preferentially manifest with atrial rather ... ... <看更多>
pkp2 mutation 在 Analysis of cardiac-specific mutations of the cell-cell adhesion ... 的相關結果
Arrhythmogenic cardiomyopathy (AC) is one such disease that has been linked to various mutations in the desmosomal protein Plakophilin-2 (PKP2) and is ... ... <看更多>
pkp2 mutation 在 Relationship between PKP2 gene mutation and ... - CAB Direct 的相關結果
PKP2 gene mutation, single nucleotide polymorphism (SNP) loci genotype and allele frequencies were detected. ... PKP2 gene mutations were higher in patients with ... ... <看更多>
pkp2 mutation 在 Arrhythmogenic right ventricular cardiomyopathy due to a ... 的相關結果
Mutations in plakophilin-2 (PKP2), a desmosomal protein, have been reported to underlie familial ARVC. We report a novel ARVC PKP2 mutation and present the ... ... <看更多>
pkp2 mutation 在 Arrhythmogenic Cardiomyopathy - Cohesion Phenomics 的相關結果
Genetics, Plakophilin (PKP2)- Individuals with mutations in PKP2 present at younger ... the identification of the AC- causative mutation in an index case ... <看更多>
pkp2 mutation 在 SARS-CoV-2 protein Nsp1 alters actomyosin cytoskeleton and ... 的相關結果
Mutations in desmosomal Plakophilin-2 (PKP2) are the most prevalent drivers of arrhythmogenic cardiomyopathy (ACM) and a common cause of ... ... <看更多>
pkp2 mutation 在 New model yields promising gene therapy for heart condition 的相關結果
“The cells with two mutated copies of PKP2 clearly exhibited reduced contractility and impaired desmosome assembly due to plakophilin-2 ... ... <看更多>
pkp2 mutation 在 PKP2 - Truncated plakophilin-2 | Publications | UniProtKB 的相關結果
Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. Categories. Sequences, Disease & ... ... <看更多>
pkp2 mutation 在 Genotype-phenotype correlations in ARVC 的相關結果
The most commonly mutated ARVC gene is the PKP2 gene, ... (62%) to have a PKP2 mutation that those who did not meet the endpoint (26%). ... <看更多>
pkp2 mutation 在 Update on Genes Associated with Arrhythmogenic ... 的相關結果
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2 . Hum Mutat. 2006 Nov;27(11):1157-1157; 31. ... <看更多>
pkp2 mutation 在 LUMCi027-A-1 · Cell Line - hPSCreg 的相關結果
Sequencing data showing the presence of the heterozygous mutation in PKP2 c.2013delC (NM_004572.3; p.K672Rfs, NP_004563.2) in the LUMCi027-A. ... <看更多>
pkp2 mutation 在 PKP2 Gene | Encyclopedia MDPI 的相關結果
2. Health Conditions Related to Genetic Changes. 2.1. Arrhythmogenic right ventricular cardiomyopathy. More than 230 mutations in the PKP2 gene have been ... ... <看更多>
pkp2 mutation 在 ar ti cl e Mut at i on ofpl akophi lin 2 gene - MedNexus 的相關結果
( PKP2 ) i s an important component of the desmosome and. 1s dir ectl y i nvolved i n ... W| e identified 5 heterozygous PKP2 mutations in 6 of the. ... <看更多>
pkp2 mutation 在 Phenotypic Variability of a Pathogenic PKP2 Mutation ... - X-MOL 的相關結果
Background. Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated prevalence between 1:2000 to 1:5000 and is characterized by the ... ... <看更多>
pkp2 mutation 在 PKP2 的相關結果
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 ... ... <看更多>
pkp2 mutation 在 Penetrance of Mutations in Plakophilin-2 Among Families With ... 的相關結果
Male PKP2 mutation carriers were more likely to have structural and conduction abnormalities as determined by imaging studies, signal-averaged ... ... <看更多>
pkp2 mutation 在 Familial Arrhythmogenic Cardiomyopathy: Clinical ... - MDPI 的相關結果
ARVC patients carry a genetic mutation [3], with the majority of genes ... PKP2 mutations account for a significant proportion of ACM cases, ... ... <看更多>
pkp2 mutation 在 Stem Cell Reports 的相關結果
Loss-of-function mutations in PKP2, which encodes plakophilin-2, cause arrhythmogenic cardiomyopathy (AC). Restoration of. ... <看更多>
pkp2 mutation 在 Characterization of A Novel Mouse Model of Arrhythmogenic ... 的相關結果
Plakophilin-2 (PKP2) is the most mutated desmosomal gene; however, ... I hypothesized that neonatal PKP2 Hom mutant mice will represent a stage where early ... ... <看更多>
pkp2 mutation 在 Mutations of Plakophilin-2 in Chinese With Arrhythmogenic ... 的相關結果
In this study we aimed to determine the prevalence of PKP2 mutations in Chinese patients with ARVD/C and their phenotype characteristics. ... <看更多>
pkp2 mutation 在 Pkp2<tm1Wbm> Targeted Allele Detail MGI Mouse (MGI ... 的相關結果
Name: plakophilin 2; targeted mutation 1, Walter Birchmeier. MGI ID: MGI:3487374. Gene: Pkp2 Location: Chr16:16031209-16090576 bp, + strand Genetic ... ... <看更多>
pkp2 mutation 在 Mutation spectrum in PKP2 and DSG2 genes in Russian ... 的相關結果
Mutations in twelve genes cause ARVC. Mutations in PKP2 and DSG2 genes account 37-80% of cases. Mutation rate in those genes in Russian cohort had not been ... ... <看更多>
pkp2 mutation 在 Preliminary genealogical evidence for the Plakophilin-2 gene ... 的相關結果
Often the pathogenesis is linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We extended investigations of the pathogenic PKP2 c.1162C ... ... <看更多>
pkp2 mutation 在 ABSTRACTS - Heart 的相關結果
PLAKOPHILIN-2 MUTATION AND DESMOGLEIN-2. MUTATION IN SYMPTOMATIC CHINESE ... determine the prevalence of PKP2 and DSG2 mutations in Chinese. ... <看更多>
pkp2 mutation 在 Wide Spectrum of Desmosomal Mutations in Danish ... - HAL 的相關結果
screened for mutations in all known desmosome genes (DSC2, DSG2, DSP, JUP, PKP2) and. TGFb3. Presence of genomic rearrangements was assessed ... ... <看更多>
pkp2 mutation 在 Arrhythmogenic Right Ventricular Cardiomyopathy: The Role ... 的相關結果
A mutation in PKP2 that compromises plakophilin's structure, however, can lead to instability of desmosomes and dissociation of myocytes from ... ... <看更多>
pkp2 mutation 在 HOPKINS STUDY ZEROES IN ON GENETIC ROOTS OF ... 的相關結果
A baker's dozen mutations in a gene called plakophilin-2 (PKP2) have been identified by Johns Hopkins scientists as the most likely origins ... ... <看更多>
pkp2 mutation 在 Generation of human induced pluripotent stem cell line ... 的相關結果
2013delC PKP2 mutation". Arrhythmogenic Cardiomyopathy (ACM) is a rare inherited heart muscle disease characterised by progressive fibro-fatty ... ... <看更多>
pkp2 mutation 在 PKP2 single gene test - Blueprint Genetics 的相關結果
We have incorporated a number of reference population databases and mutation databases including, but not limited, to 1000 Genomes Project, ... ... <看更多>
pkp2 mutation 在 Exercise Triggers ARVC Phenotype in Mice Expressing a ... 的相關結果
Stable cardiac expression of mutant PKP2 (c.2203C>T), encoding the R735X mutant ... The introduction of the PKP2 R735X mutation into mice resulted in an ... ... <看更多>
pkp2 mutation 在 ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy 的相關結果
Mutations in several different genes are known to cause ARVC: Approximately 40% of ARVC patients will have mutations in the DSP, PKP2, DSG2,. ... <看更多>
pkp2 mutation 在 Pleiotropic Phenotypes Associated With PKP2 Variants 的相關結果
Plakophilin-2 (PKP2) is a component of the desmosome complex and known for ... Phenotypic Variability of a Pathogenic PKP2 Mutation in an ... ... <看更多>
pkp2 mutation 在 File S1 - Stop-Gain Mutations in PKP2 Are Associated with a ... 的相關結果
File S1 - Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy. ... <看更多>
pkp2 mutation 在 Mutation overview page PKP2 - COSMIC 的相關結果
Genomic Mutation ID · COSV50725930 ; Legacy Identifier · COSM4714856 ; Gene name: PKP2 ; AA mutation: p.*882Rext*3 (Nonstop extension) ; CDS mutation. c.2644T>C ( ... ... <看更多>
pkp2 mutation 在 Plakophilin 2 is required for normal cardiac development 的相關結果
The researchers also found that pedigrees with clinical ARVC and confirmed PKP2 mutations display incomplete penetrance, possibly due to gender, ... ... <看更多>
pkp2 mutation 在 Function of a novel plakophilin-2 mutation in the abnormal ... 的相關結果
Given that mutations in desmosomal proteins, including desmin, desmoplakin, desmoglein, desmocollin, plakoglobin and plakophilin-2 (PKP-2), are ... ... <看更多>
pkp2 mutation 在 Treatment modalities and prognosis of two arrhythmogenic ... 的相關結果
... right ventricular cardiomyopathy patients with familial PKP2 mutations ... ARVC” patients with a familial heterozygous PKP2 mutation. ... <看更多>
pkp2 mutation 在 Arrhythmogenic Right Ventricular Cardiomyopathy-Associated ... 的相關結果
... not be extended tout court to the entire ARVC populations with other desmosomal genes but should be limited to PKP2 mutation carriers. ... <看更多>
pkp2 mutation 在 Impaired Excitation Contraction Coupling 的相關結果
ARVC with a PKP2 mutation is proarrhythmogenic through decreased Na currents but prolonged APD. • In contrast, increased Na currents prevent ... ... <看更多>
pkp2 mutation 在 Desmosomal COP9 regulates proteome degradation in ... - JCI 的相關結果
Genetic mutations in desmosomal genes resulting in the ... For Pkp2 IVS10-1 G>C mutant mice, a mixture of Pkp2 IVS10-1 G>C cRNA, ssODNs, ... ... <看更多>
pkp2 mutation 在 Atlas of Cardiac Genetic Variation - PKP2 in ARVC 的相關結果
The role of rare variants in PKP2 as causative mutations in Arrhythmogenic Right Ventricular Cardiomyopathy is described below. By comparing the frequency ... ... <看更多>
pkp2 mutation 在 Genetic Testing for Arrhythmogenic Right Ventricular ... 的相關結果
ARVC Known Familial Mutation Analysis 81403. ARVC Panel (5 or more genes) ... ventricular involvement and PKP2 mutations more frequently associated with. ... <看更多>
pkp2 mutation 在 Ventricular Arrhythmias and Sudden Cardiac Death: Mechanism, ... 的相關結果
10 No PKP2 mutation PKP2 mutation Non inducible inducible P<0.01 I n d u c i b i l it y o n a n E P s t u d y P e r c e n t a g e f r e e o f I C D f i ring ... ... <看更多>
pkp2 mutation 在 Three-generation family with arrhythmogenic right ventricular ... 的相關結果
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 ... ... <看更多>
pkp2 mutation 在 New frameshift mutation found in PKP2 gene in ... 的相關結果
Keywords: arrhythmogenic right ventricular cardiomyopathy/dysplasia, sudden cardiac death,. Next Generation Sequencing, new frame shift mutation, PKP2 gene, ... ... <看更多>
pkp2 mutation 在 CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and ... 的相關結果
Causal mutations were identified in genes encoding for proteins of the desmosomes, predominantly plakophilin-2 (PKP2) and desmoglein-2 ... ... <看更多>
pkp2 mutation 在 Compound and Digenic Heterozygosity Contributes to ... - CORE 的相關結果
We identified 21 variants in plakophilin-2 (PKP2) in 38 of 198 probands (19%), ... Heterozygous mutations in non-PKP 2 desmosomal genes occurred in 14 of. ... <看更多>
pkp2 mutation 在 PKP2 | Test catalog - Invitae 的相關結果
The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205) and dilated cardiomyopathy (DCM) ... ... <看更多>
pkp2 mutation 在 Clinical and Molecular Data Define a Diagnosis of ... - ProQuest 的相關結果
Plakophilin-2 (PKP2) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and ... ... <看更多>
pkp2 mutation 在 Distinguishing Arrhythmogenic Right Ventricular ... - DukeSpace 的相關結果
Among the mutation-positive ARVC cases, 78.4% of the mutations localized to PKP2, 2.7% to. DSP, 13.5% to DSG2, 3.6% to DSC2, 0.9% to JUP, and. 0.9% to TMEM43. A ... ... <看更多>
pkp2 mutation 在 The Challenges of Diagnosis and Treatment of ... - IMR Press 的相關結果
Even more difficult is disease classification when different mutations of the ... the LV in a patient with PKP2 mutation, detected by serial ECG recordings ... ... <看更多>
pkp2 mutation 在 Actionable secondary findings in arrhythmogenic right ... 的相關結果
causal variants being located in PKP2 (45–73% of all causal variants) which encodes ... Invariant from Tolerated), PolyPhen-2, Mutation Taster and MAPP. ... <看更多>
pkp2 mutation 在 UvA-DARE (Digital Academic Repository) 的相關結果
Background: Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). ... <看更多>
pkp2 mutation 在 Recombinant Human Plakophilin-2(PKP2) ,partial - Cusabio 的相關結果
Uniprot No. Q99959. Alternative Names. ARVD 9; ARVD9; PKP 2; PKP2; PKP2_HUMAN; Plakophilin-2; Plakophilin2. Species ... ... <看更多>
pkp2 mutation 在 Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia ... 的相關結果
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene · Summary and Pricing · Clinical Features and Genetics · Citations · Ordering/Specimens ... ... <看更多>
pkp2 mutation 在 New frameshift mutation found in PKP2 gene in ... 的相關結果
The PKP2 gene encodes a protein, plakophi-lin-2, which is involved in desmosome formation. Desmosomes are major components of intercellular interactions and are ... ... <看更多>
pkp2 mutation 在 Requirement of plakophilin 2 for heart morphogenesis and ... 的相關結果
Mutations of plakoglobin in humans (Naxos disease) and in mice have been reported ... We generated a null mutation of the plakophilin 2 gene by homologous ... ... <看更多>
pkp2 mutation 在 Cardiac MRI in Diagnosis, Clinical Management, and Prognosis ... 的相關結果
Two studies have found a prevalence of mutations in PKP2 of approximately 44% among patients with ARVC/D [19,37]. Typically carriers of the PKP2 mutation ... ... <看更多>
pkp2 mutation 在 Genetic analysis in a large cohort of unrelated consecutive ... 的相關結果
To date, mutations in 7 genes, including 5 encoding desmosomal proteins, ... Mutation screening in four desmosomal protein genes (PKP2, DSP, DSG2 and DSC2) ... ... <看更多>
pkp2 mutation 在 Clinical Cardiogenetics - 第 83 頁 - Google 圖書結果 的相關結果
Thus, PKP2 appears to be a relatively commonly mutated gene in ARVD/C patients, ... the incidence of PKP2 mutations in a broader population may be lower. ... <看更多>
pkp2 mutation 在 Molekulargenetische Charakterisierung von Plakophilin-2 ... 的相關結果
Mutations in PKP2 have been found in about 45 % of ARVC cases. Most of the mutations lead to premature stop codons predicting truncated proteins ... ... <看更多>
pkp2 mutation 在 PKP2 - Orphanet 的相關結果
Liste de maladies. Mutation germinale causale dans Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à droite ORPHA:293910 ... ... <看更多>
pkp2 mutation 在 Clinical Cardiogenetics - 第 109 頁 - Google 圖書結果 的相關結果
Table 6.3 Mutated genes with concurrent type of arrhythmogenic cardiomyopathy (ACM) ... See text for other abbreviations a family with a PKP2 mutation, ... ... <看更多>
pkp2 mutation 在 rocket pharmaceuticals, inc. - The Market Screener 的相關結果
Mutations in the PKP2 gene comprise the most frequent genetically identified etiology of familial ACM. PKP2 encodes for the protein Plakophilin- ... ... <看更多>
pkp2 mutation 在 Principles and Practice of Clinical Cardiovascular Genetics 的相關結果
(2004) first showed that mutations in plakophilin-2 (PKP2) are a major cause of ... a systematic evaluation of PKP2 mutation carriers and their families. ... <看更多>
pkp2 mutation 在 Tenaya Therapeutics Reports First Quarter 2023 Financial 的相關結果
TN-401 – Gene Therapy for PKP2-Associated Arrhythmogenic Right ... for the potential treatment of ARVC caused by PKP2 genetic mutations and ... ... <看更多>
pkp2 mutation 在 Tenaya Therapeutics Reports Fi - GuruFocus.com 的相關結果
TN-401 – Gene Therapy for PKP2-Associated Arrhythmogenic Right ... for the potential treatment of ARVC caused by PKP2 genetic mutations and ... ... <看更多>
pkp2 mutation 在 Tenaya Therapeutics Inc (TNYA) PT Lowered to $23 at ... 的相關結果
... mutations in 3Q23, and IND filing for its 2nd GT, TN-401 in arrhythmogenic right ventricular cardiomyopathy (ARVC) with PKP2 mutations ... ... <看更多>
pkp2 mutation 在 Stem Cells and Cardiovascular Diseases - 第 249 頁 - Google 圖書結果 的相關結果
Among them, the most common mutations occur in the PKP2 gene (Calkins and Marcus, ... The PKP2 mutant hiPSC-CMs exhibit reduced localization of desmosomal ... ... <看更多>
pkp2 mutation 在 Plakophilin-2 Mutations Are the Major Determinant of Familial ... 的相關結果
Background— Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). ... <看更多>