Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
about
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathyMutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseasesTMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathySCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathyRecurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology.The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.Genetics of inherited cardiomyopathy.Clinical usefulness of immunohistochemistry for plakoglobin, N-cadherin, and connexin-43 in the diagnosis of arrhythmogenic right ventricular cardiomyopathy.Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.Gap junctions and arrhythmogenic cardiomyopathy.Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathyDesmosomes in the heart: a review of clinical and mechanistic analyses.Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasiaPrecision medicine approach to genetic cardiomyopathy.Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the TMEM43 p.Ser358Leu mutation.Quantitative Immunohistochemistry of Desmosomal Proteins (Plakoglobin, Desmoplakin and Plakophilin), Connexin-43, and N-cadherin in Arrhythmogenic Cardiomyopathy: An Autopsy Study.Plakoglobin immunolocalization as a diagnostic test for arrhythmogenic right ventricular cardiomyopathy.Luma is not essential for murine cardiac development and function.LUMA in cardiac development and function.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy
P2860
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P2860
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@ast
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@en
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@nl
type
label
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@ast
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@en
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@nl
prefLabel
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@ast
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@en
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@nl
P2093
P2860
P1433
P1476
Mutation analysis and evaluati ...... ht ventricular cardiomyopathy.
@en
P2093
A H Christensen
A Tybjaerg-Hansen
C B Andersen
P2860
P304
P356
10.1111/J.1399-0004.2011.01623.X
P577
2011-01-24T00:00:00Z