Mutations 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 diseases

Mutations 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 diseases

Item
http://www.wikidata.org/entity/Q27024101
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular DisordersPlakophilin 2 affects cell migration by modulating focal adhesion dynamics and integrin protein expression.Plakophilin 3 mediates Rap1-dependent desmosome assembly and adherens junction maturation.Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)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.Striatins as plaque molecules of zonulae adhaerentes in simple epithelia, of tessellate junctions in stratified epithelia, of cardiac composite junctions and of various size classes of lateral adherens junctions in cultures of epithelia- and carcinoArrhythmogenic right ventricular cardiomyopathy coincided with the cardiac fibrosis in the inner muscle layer of the left ventricular wall in a boxer dogSequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.Arrhythmogenic right ventricular cardiomyopathy: an update on pathophysiology, genetics, diagnosis, and risk stratification.Desmosomes and extradesmosomal adhesive signaling contacts in pemphigus.Desmosomes in the heart: a review of clinical and mechanistic analyses.Overview of the Muscle Cytoskeleton.Gene Mutations Resulting in the Development of ARVC/D Could Affect Cells of the Cardiac Conduction System.Complement system modulation as a target for treatment of arrhythmogenic cardiomyopathy.
P2860

Mutations 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 diseases

Item
http://www.wikidata.org/entity/Q27024101
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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name
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
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Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
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Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
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type
label
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
@ast
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
@en
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
@nl
prefLabel
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
@ast
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
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Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
@nl
P1433
P1476
P2093
P2860
P2888
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P31
P3181
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P3181
P356
P1433
P1476
Mutations with pathogenic pote ...... or Naxos and Carvajal diseases
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P2093
P2860
P2888
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P921
P932