Associated Papers
The emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.
Rajha HE et al.
Journal of Physiology and Biochemistry, 2026
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
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
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
Wang Y et al.
Plos One, 2013
Catecholaminergic polymorphic ventricular tachycardia.
Leenhardt A et al.
Circulation. Arrhythmia and Electrophysiology, 2012
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
Faggioni M et al.
Pediatric Cardiology, 2012
Calsequestrin 2 and arrhythmias.
Faggioni M et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2012
Genetic variability of RyR2 and CASQ2 genes in an Asian population.
Wong CH et al.
Forensic Science International, 2009
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
Laitinen PJ et al.
European Journal of Human Genetics : Ejhg, 2003