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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants. , Rinné S., Int J Mol Sci. January 10, 2023; 24 (2):
Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels. , Edmond MA., Elife. June 1, 2022; 11
Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels. , Zou X., Front Physiol. January 1, 2022; 13 902224.
Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness. , Oertli A., Int J Mol Sci. January 23, 2021; 22 (3):
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I. , Maghera J., Epilepsia Open. December 1, 2020; 5 (4): 562-573.
Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state. , Taylor KC., Elife. February 25, 2020; 9
ML277 specifically enhances the fully activated open state of KCNQ1 by modulating VSD-pore coupling. , Hou P., Elife. July 22, 2019; 8
Deconstruction of an African folk medicine uncovers a novel molecular strategy for therapeutic potassium channel activation. , De Silva AM., Sci Adv. November 14, 2018; 4 (11): eaav0824.
Ancient and modern anticonvulsants act synergistically in a KCNQ potassium channel binding pocket. , Manville RW., Nat Commun. September 21, 2018; 9 (1): 3845.
Direct neurotransmitter activation of voltage-gated potassium channels. , Manville RW., Nat Commun. May 10, 2018; 9 (1): 1847.
Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening. , Hou P., Nat Commun. November 23, 2017; 8 (1): 1730.
Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome. , Adams DS ., J Physiol. June 15, 2016; 594 (12): 3245-70.
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. , Steffensen AB., Sci Rep. January 12, 2015; 5 10009.
Semicircular canal morphogenesis in the zebrafish inner ear requires the function of gpr126 (lauscher), an adhesion class G protein-coupled receptor gene. , Geng FS., Development. November 1, 2013; 140 (21): 4362-74.
Rab GTPases are required for early orientation of the left- right axis in Xenopus. , Vandenberg LN., Mech Dev. January 1, 2013; 130 (4-5): 254-71.
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1. , Aidery P., Gene. December 10, 2012; 511 (1): 26-33.
KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue. , Nakajo K., J Gen Physiol. November 1, 2011; 138 (5): 521-35.
State-dependent electrostatic interactions of S4 arginines with E1 in S2 during Kv7.1 activation. , Wu D., J Gen Physiol. June 1, 2010; 135 (6): 595-606.
Selective interaction of syntaxin 1A with KCNQ2: possible implications for specific modulation of presynaptic activity. , Regev N., PLoS One. August 13, 2009; 4 (8): e6586.
Discovery of a novel activator of KCNQ1- KCNE1 K channel complexes. , Mruk K., PLoS One. January 1, 2009; 4 (1): e4236.
Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. , Henrion U., Cell Physiol Biochem. January 1, 2009; 24 (1-2): 11-6.
Modulation of potassium channel function confers a hyperproliferative invasive phenotype on embryonic stem cells. , Morokuma J., Proc Natl Acad Sci U S A. October 28, 2008; 105 (43): 16608-13.
KCNQ1 and KCNE1 in the IKs channel complex make state-dependent contacts in their extracellular domains. , Xu X., J Gen Physiol. June 1, 2008; 131 (6): 589-603.
S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels. , Haitin Y., PLoS One. April 9, 2008; 3 (4): e1935.
KCNQ1 and KCNE1 K+ channel components are involved in early left- right patterning in Xenopus laevis embryos. , Morokuma J., Cell Physiol Biochem. January 1, 2008; 21 (5-6): 357-72.
Upregulation of KCNE1 induces QT interval prolongation in patients with chronic heart failure. , Watanabe E., Circ J. April 1, 2007; 71 (4): 471-8.
KCNE3 truncation mutants reveal a bipartite modulation of KCNQ1 K+ channels. , Gage SD., J Gen Physiol. December 1, 2004; 124 (6): 759-71.
External barium affects the gating of KCNQ1 potassium channels and produces a pore block via two discrete sites. , Gibor G., J Gen Physiol. July 1, 2004; 124 (1): 83-102.
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. , Huang L., Cardiovasc Res. September 1, 2001; 51 (4): 670-80.