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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD et al.
Circulation, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R et al.
Human Mutation, 2019
Molecular determinants of co- and post-translational N-glycosylation of type I transmembrane peptides.
Malaby HL et al.
The Biochemical Journal, 2013
Trafficking of the IKs -complex in MDCK cells: site of subunit assembly and determinants of polarized localization.
David JP et al.
Traffic (copenhagen, Denmark), 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.
Bas T et al.
The Journal of Biological Chemistry, 2011
O-glycosylation of the cardiac I(Ks) complex.
Chandrasekhar KD et al.
The Journal of Physiology, 2011
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.
Ohno S et al.
Heart Rhythm, 2007
[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].
Mönnig G et al.
Zeitschrift Fur Kardiologie, 2002
A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.
Schulze-Bahr E et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
Tranebjaerg L et al.
American Journal of Medical Genetics, 1999
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
Bianchi L et al.
Human Molecular Genetics, 1999
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
Abbott GW et al.
Cell, 1999
KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
Schulze-Bahr E et al.
Nature Genetics, 1997