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in patients with type 2 diabetes, KCNQ1 rs163184 T>G variant was associated with a reduced glycaemic response to dipeptidylpeptidase-4 (zeige DPP4 Proteine) inhibitors( DPP4I)
A small subgroup of patients with mutations on both KCNQ1 alleles and prolonged QT intervals do not present with Deafness but appear to have a similar risk of cardiac events as Jervell and Lange-Nielsen syndrome patients.
3' Untranslated region SNPs are not acting as genetic modifiers in a large group of LQT1 patients.
This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS (zeige KCNE1 Proteine) and RWS. It adds to the scant worldwide literature of mutation studies in AR RWS.
Western blotting analysis combined with these pharmacological data suggest that long-term insulin (zeige INS Proteine) treatment augments KCNQ1/KCNE1 (zeige KCNE1 Proteine) currents by increasing KCNE1 (zeige KCNE1 Proteine) protein expression.
The KCNQ1 gene has been also associated with Dilated cardiomyopathy in patients carrying a genetic variant that provokes a loss of function of potassium cannel or auto-immune deficiency.
KCNQ1/KCNE1 channel does not require phosphatidylinositol-4,5-bisphosphate (PIP2) or phosphatidylinositol-4-phosphate for anterograde trafficking, but is heavily reliant on PIP2 for channel function once at the plasma membrane.
rs8234, in the KCNQ1 3' untranslated region was associated with joint processing speed and white matter impairments in schizophrenia.
DNA methylation (zeige HELLS Proteine) of KCNQ1 is likely to be on the causal pathway for type 2 diabetes in later life.
GWAS identified two known loci (TCF7L2 (zeige TCF7L2 Proteine) and KCNQ1) reaching genome-wide significance levels in Hispanic type 2 diabetes patients. Conditional analysis on known index single nucleotide polymorphisms (SNPs) indicated an additional independent signal at KCNQ1, represented by an African ancestry-specific variant, rs1049549.
the single KCNQ channel in Drosophila (dKCNQ) has similar electrophysiological properties to neuronal KCNQ2 (zeige KCNQ2 Proteine)/3
Data show that Drosophila KCNQ (dKCNQ) is a slowly activating and slowly-deactivating K(+) current open at sub-threshold potentials that has similar properties to neuronal KCNQ2 (zeige KCNQ2 Proteine)/3 with some features of the cardiac KCNQ1/KCNE1 (zeige KCNE1 Proteine).
A maternal contribution of KCNQ protein and/or mRNA is essential for early embryonic development
The enhanced sensitivity of KCNQ1 gain-of-function mutations for HMR (zeige NR4A1 Proteine)-1556 suggests the possibility of selective therapeutic targeting, and a potential proof of principle for genotype-specific treatment of this heritable arrhythmia.
There were substantial transmural gradients in Cav1.2, KChIP2, ERG, KvLQT1, Kir2.1, NCX1, SERCA2a and RyR2 at the mRNA and, in some cases, protein level-in every case the mRNA or protein was more abundant in the epicardium than the endocardium.
This study describes one physiological form of KCNQ1, depolarized voltage sensors with a closed pore in the absence of PIP2, and reveals a regulatory interaction between CaM and KCNQ1 that may explain CaM-mediated Long QT Syndrome.
KCNE1 (zeige KCNE1 Proteine)/KCNQ1 was expressed in Xenopus oocytes with and without beta-catenin (zeige CTNNB1 Proteine). Confocal microscopy revealed that beta-catenin (zeige CTNNB1 Proteine) enhanced the KCNE1 (zeige KCNE1 Proteine)/KCNQ1 protein abundance in the cell membrane.
results indicate that AMPK (zeige PRKAA2 Proteine) inhibits KCNQ1 activity by promoting Nedd4-2 (zeige NEDD4L Proteine)-dependent channel ubiquitination and retrieval from the plasma membrane.
S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels
characterize a new component of the early bioelectrical circuit: the potassium channel (zeige KCNAB2 Proteine) KCNQ1 and its accessory subunit KCNE1 (zeige KCNE1 Proteine)
Slow delayed rectifier potassium currents mediated by mutant KCNQ1(Y111C) or KCNQ1(L114P) are paradoxically reduced by serum- and glucocorticoid-inducible kinase 1.
phenylboronic acid (PBA) activates KCNQ1/KCNE1 (zeige KCNE1 Proteine) complexes
Collectively, the authors propose that Prmt1 (zeige PRMT1 Proteine)-dependent facilitation of KCNQ-phosphatidylinositol-4,5-bisphosphate interaction underlies the positive regulation of KCNQ activity by arginine methylation, which may serve as a key target for prevention of neuronal hyperexcitability and seizures.
we investigated the effects of KCNQ1 A340E, a loss-of-function mutant. J343 mice bearing KCNQ1 A340E demonstrated a much higher 24-h intake of electrolytes (potassium, sodium, and chloride). KCNQ1, therefore, is suggested to play a central role in electrolyte metabolism. KCNQ1 A340E, with the loss-of-function phenotype, may dysregulate electrolyte homeostasis
The electrophysiological effects of BACE1 (zeige BACE Proteine) on KCNQ1 reported here were independent of its enzymatic activity.
Loss of methylation at the Kcnq1 imprinted gDMD was strongly associated with trophoblast giant cell (TGC (zeige TGM2 Proteine)) expansion.
Data show that disruption of potassium voltage-gated channel, KQT-like subfamily Q, member1 (KCNQ1) results in increased expression of cyclin-dependent kinase inhibitor 1C (Cdkn1c (zeige CDKN1C Proteine)) only when the mutation is on the paternal allele.
S3 mutations in KCNQ1 cause diverse kinetic defects in I(Ks), affecting opening and closing properties, and can account for LQT1 (zeige ARFGAP1 Proteine) phenotypes.
Characterization of the imprinted Kcnq1 domain which contains a differentially methylated region in intron 11 of Kcnq1.
KCNQ1, KCNE2 (zeige KCNE2 Proteine), and SMIT1 (zeige SLC5A3 Proteine) form reciprocally regulating complexes that affect neuronal excitability.
low expression of KCNQ1 expression was significantly associated with poor overall survival.
Which participates in the allelic repression of Kcnq1.
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene.
IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1
, kidney and cardiac voltage dependend K+ channel
, potassium voltage-gated channel subfamily KQT member 1
, slow delayed rectifier channel subunit
, voltage-gated potassium channel subunit Kv7.1
, KCNQ-type K[+] channel
, Potassium voltage-gated channel subfamily KQT member 1
, potassium channel protein (KvLQT1)
, ventricular voltage-gated K+ channel pore-forming subunit KCNQ1
, KvLQT1 voltage-gated delayed rectifier potassium channel
, potassium voltage-gated channel, KQT-like subfamily, member 1
, potassium channel protein KCNQ1
, potassium voltage-gated channel, subfamily Q, member 1
, voltage gated potassium channel subunit
, KQT-like 1
, IKs producing slow voltage-gated potassium channel subunit alpha xKvLQT1
, Voltage-gated potassium channel subunit Kv7.1
, potassium channel protein