Associated Papers
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2025
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM1_ESM.xlsx › ClinVar
Development of Personalized Therapeutic Strategies by Targeting Actionable Vulnerabilities in Metastatic and Chemotherapy-Resistant Breast Cancer PDXs.
Punzi S et al.
Cells, 2019
31216647 (PubMed )
Supplement: cells-08-00605-s001.zip › cells-502088-SI › TableS2.xlsx › EXOME-seq_PDXs
Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).
Li Y et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
Weeke P et al.
Journal of the American College of Cardiology, 2014
KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.
Li Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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