Associated Papers
Coupling of USP10 de-ubiquitination and chaperone-mediated autophagy causes cardiac sodium channel degradation and cardiac arrhythmias.
Xiong H et al.
Cardiovascular Research, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
Postmortem genetic analysis of 17 sudden cardiac deaths identified nonsense and frameshift variants in two cases of arrhythmogenic cardiomyopathy.
Takahashi Y et al.
International Journal of Legal Medicine, 2023
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.
Alsaloum M et al.
Journal of Neurophysiology, 2021
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM9_ESM.xlsx › merge_mutation_filt_pair_contro
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
33914752 (PubMed )
Supplement: pone.0249997.s006.xlsx › Pubmed
Identification of rare variants in cardiac sodium channel β4-subunit gene SCN4B associated with ventricular tachycardia.
Yang Q et al.
Molecular Genetics and Genomics : Mgg, 2019
Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4-subunit SCN4B with atrial fibrillation.
Xiong H et al.
Annals of Human Genetics, 2019
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