Associated Papers
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
40265264 (PubMed )
Supplement: circcvg-2024-004896-s01.pdf
Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.
Rahimzadeh M et al.
Heart Failure Reviews, 2024
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ et al.
Nature Communications, 2022
36050321 (PubMed )
Supplement: 41467_2022_32821_MOESM4_ESM.xlsx › Data_12a
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
33176122 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_4
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.
Eicher JD et al.
Thrombosis and Haemostasis, 2017
Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis.
Aherrahrou Z et al.
Basic Research in Cardiology, 2016
Atlas of the clinical genetics of human dilated cardiomyopathy.
Haas J et al.
European Heart Journal, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1
Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.
Shao J et al.
Plos One, 2013
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.
Wang H et al.
American Journal of Human Genetics, 2010
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Hassel D et al.
Nature Medicine, 2009
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