|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
An extensive single-family ACM cohort was assembled, revealing a pattern of coinheritance for R451G desmoplakin and the ACM phenotype.
|
31194698 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
|
30382575 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
DSP_Lys1581Glu and DSC2_p.Thr275Met were classified according to American College of Medical Genetics and Genomics consensus statement guidelines as pathogenic or likely pathogenic for arrhythmogenic cardiomyopathy in three patients (30%).
|
31024045 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Patients in Cluster 1 mainly carried desmosomal mutations (except for desmoplakin) and were subjected to transplantation at early age; this group was consistent with classical 'desmosomal cardiomyopathy'.
|
30945739 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Woolly hair, nail abnormalities and cardiomyopathy characterize patients with DSP variants, while elevated immunoglobulin E and food allergies are frequent in patients with DSG1 variants.
|
31037311 |
2019 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation.
|
30160835 |
2018 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In patients with BrS with midwall LGE there were no other features of cardiomyopathy at the time of CMR, but genetic testing and follow-up revealed a desmoplakin mutation in 1 patient and evolution of T-wave inversion throughout all precordial ECG leads in another.
|
27919765 |
2017 |
|
Cardiomyopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
|
27435932 |
2016 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin.
|
26604139 |
2016 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Dysregulation of DSP via loss-of-function (adult DSP csKO mice) and mutation (clinical case of a patient harbouring a pathogenic DSP variant) in mice and man, respectively, revealed that desmosomal dysregulation is associated with a primary phenotype of increased sinus pauses/dysfunction in the absence of cardiomyopathy.
|
27097650 |
2016 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy.
|
24825141 |
2014 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
DSP c.1339C>T is associated with an aggressive clinical phenotype of left-dominant arrhythmogenic cardiomyopathy and left ventricular non-compaction.
|
24938629 |
2014 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
|
23137101 |
2013 |
|
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
These findings suggest that this contiguous gene deletion contributes to both ARVD/C and BOFS, and that DSP haploinsufficiency may contribute to cardiomyopathy.
|
23307527 |
2013 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
|
21789513 |
2011 |
|
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy.
|
20738328 |
2011 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
These findings suggest DSP mutations as the aetiology of LAEB and cardiomyopathy as part of the phenotype.
|
20302578 |
2010 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Moreover, we demonstrated that the DES mutation p.R454W affects the localization of desmoplakin and plakophilin-2 at the intercalated disk, suggesting a link between desmosomal cardiomyopathies (mainly affecting the right ventricle) and cardiomyopathies caused by DES mutations.
|
20423733 |
2010 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
|
19924139 |
2010 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.
|
19178614 |
2009 |
|
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
|
16467215 |
2006 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16917092 |
2006 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
|
16628197 |
2006 |
|
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The results indicate that the association of desmoplakin with desmin depends on sequences within the linker region and C-terminal extremity of desmoplakin, where the B and C subdomains contribute to efficient binding; a potentially phosphorylatable serine residue in the C-terminal extremity of desmoplakin affects its association with desmin; the interaction of desmoplakin with non-filamentous desmin requires sequences contained within the desmin C-terminal rod portion and tail domain in yeast, whereas in in vitro binding studies the desmin tail is dispensable for association; and mutations in either the C-terminus of desmoplakin or the desmin tail linked to inherited cardiomyopathy seem to impair desmoplakindesmin interaction.
|
17105773 |
2006 |