Associated Papers
Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.
Chamoieva A et al.
Journal of Personalized Medicine, 2026
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
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
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Fine mapping of candidate effector genes for heart rate.
Ramírez J et al.
Human Genetics, 2024
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
Relevance of KCNJ5 in Pathologies of Heart Disease.
Meyer KM et al.
International Journal of Molecular Sciences, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Recurrence of Primary Aldosteronism 10 Years After Left Adrenalectomy for Aldosterone-Producing Adenoma: A Case Report.
Kong L et al.
Frontiers in Endocrinology, 2021
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
From astrocytoma to glioblastoma: a clonal evolution study.
Yang F et al.
Febs Open Bio, 2020
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Nishimura M et al.
Bmc Medical Genetics, 2017
Genetics of primary hyperaldosteronism.
Dutta RK et al.
Endocrine-related Cancer, 2016
A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.
Kuppusamy M et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Association of the KCNJ5 gene with Tourette Syndrome and Attention-Deficit/Hyperactivity Disorder.
Gomez L et al.
Genes, Brain, and Behavior, 2014
Genetic variation in the parasympathetic signaling pathway in patients with reflex syncope.
Holmegard HN et al.
Genetics and Molecular Research : Gmr, 2013
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
Xekouki P et al.
Endocrine-related Cancer, 2012
Expression and mutations of KCNJ5 mRNA in Japanese patients with aldosterone-producing adenomas.
Taguchi R et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
The single nucleotide polymorphisms of Kir3.4 gene and their correlation with lone paroxysmal atrial fibrillation in Chinese Han population.
Zhang C et al.
Heart, Lung & Circulation, 2009
Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit.
Calloe K et al.
Biochemical and Biophysical Research Communications, 2007
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005