Associated Papers
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
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J et al.
Heart (british Cardiac Society), 2020
32451364 (PubMed )
Supplement: heartjnl-2020-316913supp001.pdf
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.
Li J et al.
Gut, 2020
31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › All_Somatic_mutations__CRC_
Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.
Schumacher D et al.
Plos Genetics, 2019
30925167 (PubMed )
Supplement: pgen.1008076.s013.xlsx › S8_Table
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.
Lane CM et al.
Heart Rhythm, 2018
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
Chen P et al.
Neural Plasticity, 2016
An LQTS6 MiRP1 mutation suppresses pacemaker current and is associated with sinus bradycardia.
Nawathe PA et al.
Journal of Cardiovascular Electrophysiology, 2013
An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.
Sand PG et al.
Genes, 2010
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
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