Associated Papers
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E et al.
Journal of Cardiovascular Translational Research, 2023
37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations
Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.
Pohl GM et al.
Frontiers in Cardiovascular Medicine, 2023
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
Moreau A et al.
Clinical and Translational Medicine, 2021
Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Wada Y et al.
Molecular Genetics & Genomic Medicine, 2017
The genetic background of arrhythmogenic right ventricular cardiomyopathy.
Ohno S
Journal of Arrhythmia, 2016
Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.
Ravikumar KE et al.
Bmc Bioinformatics, 2015
Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.
Castellsagué J et al.
Embo Molecular Medicine, 2015
25810463 (PubMed )
Supplement: emmm0007-0608-sd2.xlsx › MPNST-SP-002_SNV
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S10.xls › Supp_Table_10
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull B et al.
Circulation. Cardiovascular Genetics, 2013
In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
Gaertner A et al.
Plos One, 2012
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
Gehmlich K et al.
Cardiovascular Research, 2011
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