A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
about
Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathyGenetics of Human and Canine Dilated CardiomyopathyRare variant mutations identified in pediatric patients with dilated cardiomyopathyHistological and ultrastructural abnormalities in murine desmoglein 2-mutant heartsComprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathyNovel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?Desmoglein 2 mutant mice develop cardiac fibrosis and dilation.Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.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 carcinoCell-cell connection to cardiac diseaseMutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced CardiomyopathyLoss of flotillin expression results in weakened desmosomal adhesion and Pemphigus vulgaris-like localisation of desmoglein-3 in human keratinocytesGenetic evaluation of dilated cardiomyopathy.Myofilament dysfunction as an emerging mechanism of volume overload heart failure.Clinical and Molecular Comparison of Pediatric and Adult Reverse Remodeling With Ventricular Assist Devices.Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.Desmosomes at a glanceGenomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.A promoter polymorphism -945C>G in the connective tissue growth factor in heart failure patients with mechanical circulatory support: a new marker for bridge to recovery?
P2860
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P2860
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
description
2008 nî lūn-bûn
@nan
2008 թուականին հրատարակուած գիտական յօդուած
@hyw
2008 թվականին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@ast
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@en
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@nl
type
label
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@ast
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@en
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@nl
prefLabel
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@ast
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@en
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@nl
P2093
P3181
P1476
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy
@en
P2093
Anette Richter
Bernhard Maisch
Bettina Erdmann
Cemil Ozcelik
Christian Geier
Jens Buttgereit
Matthias J Posch
Maximilian G Posch
Rainer Dietz
Sabine Pankuweit
P3181
P356
10.1016/J.YMGME.2008.06.005
P407
P577
2008-08-03T00:00:00Z