.. _KCNQ1: KCNQ1 ^^^^^ .. contents:: :local: General Information ******************* :Full gene name: potassium voltage-gated channel, KQT-like subfamily, member 1 :Entrez Gene ID: 3784 :Location: 11p15.5 :Synonyms: JLNS1, LQT, KVLQT1, Kv1.9, KCNA9, SQT2, RWS, LQT1, WRS, KCNA8, ATFB3, Kv7.1, ATFB1 :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +-----------+---------------+-----------+ | SNP | Distance (bp) | Direction | +===========+===============+===========+ | rs231362 | 0 | within | +-----------+---------------+-----------+ | rs2237892 | 0 | within | +-----------+---------------+-----------+ .. _KCNQ1 Gene summary: NCBI Summary ************ 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. [provided by RefSeq, Aug 2011] .. _OMIM ID 610980 : http://omim.org/entry/610980 .. _KCNQ1 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 610980 `_ .. _KCNQ1 Phenotype: NCBI Phenotypes *************** * Jervell and Lange-Nielson syndrome * Twelve type 2 \ ``diabetes``\ susceptibility loci identified through large-scale association analysis. * Beckwith-Wiedemann syndrome * Short qt syndrome 2 * Common variants at ten loci influence QT interval duration in the QTGEN Study. * Atrial fibrillation, familial, 3 * OMIM * A genome-wide association study confirms previously reported loci for type 2 \ ``diabetes``\ in Han Chinese. * Variants in KCNQ1 are associated with susceptibility to type 2 \ ``diabetes``\ mellitus. * Genome-wide association study of type 2 \ ``diabetes``\ in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. * Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 \ ``diabetes``\ in the Japanese population. * GTR * SNPs in KCNQ1 are associated with susceptibility to type 2 \ ``diabetes``\ in East Asian and European populations. * A genome-wide association study identifies protein quantitative trait loci (pQTLs). * Long QT syndrome 1 * Gene Reviews * Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. * Hundreds of variants clustered in genomic loci and biological pathways affect human height. * Several common variants modulate heart rate, PR interval and QRS duration. * Common variants at ten loci modulate the QT interval duration in the QTSCD Study. * NHGRI GWA Catalog * A genome-wide association study identifies susceptibility variants for type 2 \ ``diabetes``\ in Han Chinese. .. _KCNQ1 GO Term: Gene Ontology ************* * outward rectifier potassium channel activity * regulation of heart contraction * voltage-gated potassium channel complex * regulation of gene expression by genetic imprinting * voltage-gated potassium channel activity * sensory perception of sound * response to chemical stimulus * blood circulation * potassium ion export * negative regulation of \ ``insulin``\ secretion * muscle contraction * delayed rectifier potassium channel activity * basolateral plasma membrane * calmodulin binding * synaptic transmission * gene silencing * sarcolemma * zymogen granule membrane * regulation of membrane repolarization * plasma membrane .. _KCNQ1 Pathway: KEGG Pathways ************* * `Gastric acid secretion `_ * `Cholinergic synapse `_ * `Pancreatic secretion `_ * `Protein digestion and absorption `_ * `Vibrio cholerae infection `_ .. _KCNQ1 GeneRIF: GeneRIFs ******** * Affinity Capture-MS [`PMID 14743216`_] * The cumulative probability of cardiac events was significantly higher among S349W mutation carriers (58%) as compared with carriers of QTc-matched haploinsufficent missense (21%, P = 0.004) and nonsense (25%, P = 0.01) mutations [`PMID 20662986`_] * The effect of th anti-arrhythmic agent NIP-142 on the which underlies the slow component of the cardiac delayed rectifier potassium channel. [`PMID 21212535`_] * Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with torsades de pointes. [`PMID 17161064`_] * None of the SNPs of KCNQ1 were associated with atrial fibrillation phenotype. [`PMID 16563243`_] * KCNQ1 mutations are associated with long QT syndrome type 1. [`PMID 21810471`_] * MinK is an endocytic chaperone for KCNQ1. [`PMID 19202166`_] * despite the high degree of homology of the pore region among the various K(+) channels, KCNQ1 channels display significant structural and functional uniqueness. [`PMID 15226366`_] * findings suggest that altered charge-pair interactions within the voltage sensor module of KCNQ1 subunits may account for slowed I(Ks) deactivation induced by S140 or V141. [`PMID 18599533`_] * Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) [`PMID 20379614`_] * KCNQ1 SNPs, haplotypes and diplotypes are associated with type 2 \ ``diabetes``\ in Malaysian Malay subjects. [`PMID 22206064`_] * Changes of amino acid residue at the pore center of KCNQ1 may alter the channel function but this depends on the electrical charge or the size of amino acid residue. [`PMID 19056345`_] * S3 mutants of KCNQ1 cause LQTS predominantly through biophysical effects on the gating of I(Ks), but some mutants also show protein stability/trafficking defects, which explains why the kinetic gain-of-function mutation S209F causes LQT1. [`PMID 20421371`_] * KCNQ1 may play important physiological roles in the mammary epithelium, regulating cell volume and potentially mediating transepithelial K(+) secretion [`PMID 17596298`_] * The findings reveal, in vivo, Kcne-dependent alpha subunit polarized trafficking and the existence and consequences of potassium channel beta subunit remodeling. [`PMID 21084694`_] * Modeling of the adrenergic response of the human IKs current (hKCNQ1/hKCNE1) stably expressed in HEK-293 cells. [`PMID 18757482`_] * Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 19956635`_] * the S140G mutation in KCNQ1 is likely to initiate and maintain atrial fibrillation by reducing action potential duration and effective refractory period in atrial myocytes [`PMID 12522251`_] * Observational study of gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator) [`PMID 11743032`_] * These data implicate rs2237892 in KCNQ1 as a protective gene variant against premature coronary artery disease and any association of the 4 single nucleotide polymorphisms with type 2 \ ``diabetes``\ mellitus could not be replicated. [`PMID 19575309`_] * effect of KCNQ1 variants on type 2 \ ``diabetes``\ is mainly mediated through impaired B-cell function. [`PMID 19556355`_] * In chronic heart failure (CHF), the relative abundance of KCNE1 compared to KCNQ1 genes might contribute to the prolongation of QT interval through reducing the net outward current during the plateau of the action potential. [`PMID 17384445`_] * Calmodulin is a constitutive component of KCNQ1 K+ channels, the most commonly mutated long-QT syndrome (LQTS) locus. [`PMID 16556866`_] * Calmodulin binding to KCNQ1 is essential for correct channel folding and assembly and for conferring Ca(2+)-sensitive IKS-current stimulation, which prevents risk of ventricular arrhythmias. [`PMID 16556865`_] * Within KCNQ1 there was weak evidence for association between the minor allele of IVS12 +14T>C and increased QTc (P = 0.02) in myocardial sodium and potassium channel genes and QT interval duration in diabetics. [`PMID 19149796`_] * We propose that the KCNE2 TMD adopts an alpha-helical secondary structure with one face making intimate contact with the KCNQ1 pore domain, while the contacts with the KCNQ1 voltage-sensing domain appear more dynamic. [`PMID 17676362`_] * Report KCNQ1 mutations which alter slow potassium current, protein trafficking and interactions with KCNE1 resulting in long QT syndrome type 5. [`PMID 19907016`_] * LQT1 patients with transmembrane mutations are at higher risk of congenital LQTS-related cardiac events and have greater sensitivity to sympathetic stimulation, as compared with patients with C-terminal mutations. [`PMID 15234419`_] * Stimulation by PKA and PKC can partially rescue LQT1 mutant KCNQ1 channels with weakened response to PIP(2) by strengthening channel interactions with PIP(2). [`PMID 19934648`_] * a mechanistic model of KCNQ1 channel function [`PMID 20940310`_] * the extracellular flank of the transmembrane helix of E1 is located between S1 and S6 on different subunits of Q1 (Q1 TM helics). [`PMID 19131515`_] * results suggest that T322M is a novel mutation that caused Romano-Ward syndrome with high intrafamilial variability in the heterozygous carriers and typical Jervell and Lange-Nielsen syndrome in the homozygous carriers within this Chinese family [`PMID 18400097`_] * no relationship of CDKAL1 and KCNQ1 polymorphisms to the earlier onset of type 2 \ ``diabetes``\ was observed [`PMID 21416855`_] * All KCNQ1 protein mutants shifted the voltage dependence of activation to the right and reduced the voltage dependence of deactivation kinetics. [`PMID 19590188`_] * Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 20581827`_] * The structural and functional changes related to the glycine to serine amino acid substitution in the S5 segment may also influence the activity of the whole KvLQT1 channel. [`PMID 20044973`_] * Two common intronic variants in KCNQ1 and SCN5A were associated with sudden cardiac death in individuals of European ancestry. [`PMID 20400777`_] * CNVs in KCNQ1 and KCNH2 explain around 3% of LQTS in patients with no point mutation in these genes. [`PMID 21185499`_] * The trafficking and targeting pattern of KCNQ1 can be influenced by its association with different KCNE subunits. [`PMID 20533308`_] * We confirmed the association of KCNQ1 with type 2 \ ``diabetes``\ in the population of mainland China [`PMID 19448982`_] * KCNQ1 was associated with type 2 \ ``diabetes``\ susceptibility in a Chinese population, possibly through its effect on beta cell function [`PMID 19308350`_] * A variant in intron 1 of the KCNQ1 gene (rs757092, +1.7 ms/allele) is associated with QT interval length. [`PMID 16253915`_] * Single nucleotide polymorphisms in KCNQ1 is associated with type 2 \ ``diabetes``\ . [`PMID 19798621`_] * A novel missense mutation in the KCNQ1 gene, KCNQ1 P320H, was identified in the hereditary long QT syndrome patient presenting with recurrent syncope and aborted sudden death triggered by physical stress and swimming. [`PMID 19540844`_] * Observational study of genetic testing. (HuGE Navigator) [`PMID 21063070`_] * Suggest that KCNE1 stabilizes KCNQ1 S4 segment in the resting state and slows the rate of transition to the active state, while KCNE3 stabilizes the S4 segment in the active state. [`PMID 17698596`_] * an association of KCNQ1 with diabetic complications [`PMID 22403629`_] * Genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 19305409`_] * Patient with a loss-of-function mutation in KCNQ1 and a loss-of-function polymorphism in KCNH2 is reported. Results suggest that a reduction of both IKr and IKs underlies the combined LQT1 and LQT2 phenotype. [`PMID 21164565`_] * the KCNQ1 rs2237895 minor allele associates with reduced \ ``insulin``\ release following an oral \ ``glucose``\ load [`PMID 19516902`_] * Data suggests that KCNE1 slows KCNQ1 activation by sitting on and restricting the movement of the S4-S5 linker that connects the voltage sensor to the pore domain. [`PMID 18611041`_] * KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in risk of type 2 \ ``diabetes``\ in the Chinese Northern Han population [`PMID 20512086`_] * Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [`PMID 20512086`_] * The increased risk for type 2 \ ``diabetes``\ associated with KCNQ1 genetic variration is likely to be caused by a reduction in \ ``insulin``\ secretion. [`PMID 19252135`_] * Long QT syndrome patients with mutations on the HERG gene have greater QT interval prolongation than patients with mutations of the KCNQ1 gene. [`PMID 16880338`_] * structural basis of KCNQ1 channel gating [`PMID 21059661`_] * Surface-expressed Kv7.1 channels are endocytosed and sent for degradation in lysosomes by an AMPK-mediated activation of Nedd4-2 during the initial phase of the MDCK cell polarization process. [`PMID 21957902`_] * PDE4D3, like protein kinase A and protein phosphatase 1, is recruited to the I(Ks) channel via AKAP-9 and contributes to its critical regulation by cAMP [`PMID 19218243`_] * no association between atrial fibrillation and single nucleotide polymorphisms [`PMID 17016049`_] * KCNE peptides differently modulate the voltage sensor in KCNQ1 K(+) channels. [`PMID 18079560`_] * The unmethylated Kcnq1 imprinting control region harbors bidirectional silencer activity and drives expression of an antisense RNA. [`PMID 15340049`_] * single nucleotide polymorphisms in KCNQ1 showed a significant association with gestational \ ``diabetes``\ mellitus in the Korean population [`PMID 20606385`_] * The results suggest that KCNQ1 is a new candidate gene for conferring susceptibility to diabetic nephropathy. [`PMID 20056949`_] * These findings indicate the importance of a putative pore helix-S5-S6 interaction for normal KCNQ1 channel deactivation and confirm its role in KCNQ1 inactivation. [`PMID 15649981`_] * Two novel deletion mutations and one novel polymorphism of KCNQ1 gene were identified among 6 Chinese families with congenital long QT syndrome(LQTS). [`PMID 14731347`_] * mRNA levels of all HERG1 and KCNQ1 isoforms were asymmetrically distributed within the heart, being more abundant in the right atria and ventricles relative to the left atria and ventricles [`PMID 18192214`_] * Torsades de pointes and episodes of syncope are very likely to be due to the KCNQ1 variant L203P found in this patient. [`PMID 21459285`_] * Based upon previous studies and the present results, it is concluded that both hKCNE4 and mKCNE4 have a drastic inhibitory impact on both hKCNQ1 and mKCNQ1 currents. [`PMID 15707997`_] * can function as a repolarization reserve when IKr, the rapid delayed rectifier, is reduced by disease or drug and can prevent excessive action potential prolongation and development of arrhythmogenic early afterdepolarizations [`PMID 16129795`_] * Single nucleotide polymorphism in KCNQ1 is associated with type II \ ``diabetes``\ . [`PMID 21261977`_] * KCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channel, KCNQ1. [`PMID 19077539`_] * When coexpressed with KCNE1, both mutants deactivate significantly slower than wild-type KCNQ1/KCNE1 channels. [`PMID 22250012`_] * Biochemical Activity [`PMID 20861072`_] * These results suggest that although it is expressed in nearly all taste bud cells, the function of KCNQ1 is not required for gross taste bud development or peripheral taste transduction pathways. [`PMID 19006182`_] * Specific KCNE4 domains responsible for the inhibitory effects on heterologously expressed KCNQ1 were identified. The KCNE4 C-terminus is critical for KCNQ1 modulation and physically interacts with KCNQ1. [`PMID 19029186`_] * This suggests that genetic determinants located in KCNQ1, KCNE1, KCNH2 and SCN5A influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular diseases. [`PMID 16132053`_] * NF-Y transcription factor as a crucial regulator of antisense promoter-mediated bidirectional silencing and the parent of origin-specific epigenetic marks at the Kcnq1 imprinting control region [`PMID 15459184`_] * The single heterozygous mutation in KCNQ1 may also cause Jervell-Lange-Nielsen syndrome. [`PMID 15924777`_] * expressed strongly in heart, skeletal muscle, and kidney, less in placenta, lung, and liver, and weakly in brain and blood cells. Electrophysiological study showed that KCNE4 modulates the activation of the KCNQ1 channel. [`PMID 12670483`_] * R231C missense mutation in KCNQ1 may predispose some families to long QT syndrome type 1 or familial atrial fibrillation. [`PMID 20850564`_] * differences in autonomic responses might modify clinical severity in long QT syndrome type 1 (LQT1) patients, those with KCNQ1 mutations and reduced I(Ks) [`PMID 18308161`_] * study concludes that AMPK is a potent regulator of KCNQ1/KCNE1 [`PMID 21231794`_] * phenylboronic acid (PBA) activates KCNQ1/KCNE1 complexes [`PMID 19156197`_] * Mutations in highly conserved amino acid residues in the KCNQ1 gene are asssociated with significant risk of cardiac events. [`PMID 19490272`_] * Observational study of gene-disease association. (HuGE Navigator) [`PMID 21070882`_] * In type-1 long-QT syndrome, mutations located in the transmembrane portion of the ion channel protein and the degree of ion channel dysfunction caused by the mutations are important independent risk factors influencing its clinical course. [`PMID 17470695`_] * We conclude that fenofibrate inhibits intestinal cAMP-stimulated Cl(-) secretion through a nongenomic mechanism that involves a selective inhibition of basolateral KCNQ1/KCNE3 channel complexes. [`PMID 17916649`_] * Suggest involvement of the KCNQ1-S6 region in cAMP-dependent stimulation of I(Ks), a process that is under strong dominant-negative control, suggesting that tetrameric KCNQ1 phosphorylation is required. Long-QT1 mutations disable this regulation. [`PMID 22095730`_] * Patients with C-loop missense mutations in the KCNQ1 channel exhibited a high risk for life-threatening events. Reduced channel activation after sympathetic activation can explain the increased clinical risk. [`PMID 22456477`_] * External acidification acts on homomeric and heteromeric KCNQ1 channels via multiple mechanisms to affect gating and maximum conductance. [`PMID 12482884`_] * Almost 300 mutations of KCNQ1 have been identified in patients and a vast majority of the described mutations are linked to the long QT syndrome [review] [`PMID 18174212`_] * the analysed region of the KVLQT1 gene is not commonly involved in pathogenesis of the long QT syndrome [`PMID 12080180`_] * That long QT syndrome mutations in KCNQ1 cause epilepsy reveals the dual arrhythmogenic potential of an ion channelopathy coexpressed in heart and brain and motivates a search for genetic diagnostic strategies [`PMID 20368164`_] * KCNE1 binds to the outer face of the KCNQ1 channel pore domain, modifies interactions between voltage sensor, S4-S5 linker and the pore domain, leading to structural modifications of the selectivity filter and voltage sensor domain. [`PMID 21691061`_] * results support several roles for KCNE1 C-terminus interaction with KCNQ1: regulation of channel assembly, open-state destabilization, and kinetics of channel deactivation [`PMID 19340287`_] * Reconstituted Complex [`PMID 11101505`_] * the rate-dependent biophysical properties of the LQT1 H258R mutant are counteracted by a dominant negative effect on channel trafficking [review] [`PMID 19913547`_] * These results indicate that the F275S KCNQ1 mutation leads to impaired polypeptide trafficking that in turn leads to reduction of channel ion currents and altered gating kinetics. [`PMID 19167356`_] * supports the involvement of voltage-gated K+ channel in cell proliferation [`PMID 16610241`_] * These results provide the novel information that epidermal growth factor receptor kinase, but not Src-family kinases, regulates the recombinant cardiac I(Ks) stably expressed in HEK 293 cells via phosphorylating KCNQ1 protein of the channel. [`PMID 20085748`_] * Report cardiac KCNQ1 gene mutations in sudden infant death syndrome. [`PMID 18596570`_] * Derlin-1 did not modify KCNQ1 expression level, and no interaction between endogenous KCNQ1 and Derlin-1 could be detected. [`PMID 19114714`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 19114714`_] * Affinity Capture-Western [`PMID 19114714`_] * comparison of clinical course of Caucasian & Japanese long QT type-1 patients matched for mutations in KCNQ1 gene;data indicate ethnic difference in clinical expression of LQTS can be due to difference in frequency of specific mutations in the populations [`PMID 18713323`_] * Syncope did not occur in patients with the C-terminal domain mutations up to the age of 6-9 years, but family members of patients with the C-terminal domain mutations had a history of syncope in their elementary school days. [`PMID 19261104`_] * a P448R polymorphism in KCNQ1 may have a role in long QT syndrome in Chinese patients [`PMID 15242738`_] * We demonstrated that 9.5% of cases diagnosed as SIDS carry functionally significant genetic variants in LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3). [`PMID 17210839`_] * Kcnq1 locus that regulates long range repression on the paternally derived p57Kip2 and Kcnq1 alleles in an imprinting domain that includes Igf2 and H19. This ICR appears to possess a unidirectional chromatin insulator function in somatic cells. [`PMID 11877438`_] * family pedigree analysis exposed the potentially lethal molecular substrate of a large KCNQ1 gene rearrangement in an untreated family member with apparently concealed LQT1 (normal QTc duration and asymptomatic). [`PMID 20920651`_] * Results describe the functional alterations caused by KCNQ1 mutations which were identified in compound heterozygous state in two patients with autosomal-recessive LQTS not accompanied by hearing loss. [`PMID 19825999`_] * common polymorphisms of LQTS-associated genes might modify arrhythmia susceptibility in potential gene carriers. [`PMID 11761407`_] * The identification and characterization of mutations in KCNQ1 specific to Jervell and Lange-Nielsen syndrome in a single family are reported. [`PMID 16987820`_] * rs2283228 and rs2237892 in KCNQ1 are associated with lipid metabolism in a middle-aged Chinese Han population [`PMID 20701788`_] * an I313K mutation within the selectivity filter of KCNQ1 results in a dominant-negative loss of channel function, leading to a long QT interval and subsequent syncope [`PMID 18266681`_] * KCNQ1-A341V single nucleotide polymorphism is associated with greater risk than that reported for large databases of long QT syndrome. [`PMID 16246960`_] * Single nucleotide polymorphism in KCNQ1 is associated with type 2 \ ``diabetes``\ . [`PMID 18991055`_] * A variant in intron 1 of the KCNQ1 gene (rs757092, +1.7 ms/allele) is associated with QT interval length. [`PMID 15746444`_] * A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation. [`PMID 15696484`_] * The researchers found evidence of KCNQ1 mutations in many individuals in a cohort of patients with long QT syndrome. [`PMID 19716085`_] * hydrophobic or aromatic residues involved in S6 transmembrane domain and the base of the pore helix of KCNQ1 [`PMID 15904893`_] * missense mutations in KCNQ1 and SCN5A in a case of congenital Long QT Syndrome [`PMID 12820704`_] * Affinity Capture-Western; Co-localization [`PMID 22024150`_] * Affinity Capture-Western [`PMID 22024150`_] * Affinity Capture-Western; Co-localization [`PMID 22024150`_] * KCNQ1 gene variants is associated with new-onset \ ``diabetes``\ in tacrolimus-treated renal-transplanted patients. [`PMID 21355884`_] * the effects of the G314S mutation on KCNQ1 were studied. [`PMID 19348785`_] * the newly reported mutation, guanine-to-adenosine at position 947 in the KCNQ1 gene, exhibits a dominant trait of long-QT syndrome-1 with complete penetrance [`PMID 20981542`_] * In Australians <35 years with a negative autopsy at sudden death, nine DNA sequence variants were identified in the KCNQ1 gene. [`PMID 17544529`_] * Beta-blockers are widely used to prevent the lethal cardiac events associated with the long QT syndrome (LQTS), especially in KCNQ1-related LQTS (LQT1) patients. [`PMID 15028050`_] * ER quality control prevents minK-L51H/KvLQT1 complexes from trafficking to the plasma membrane, resulting in decreased I(Ks). [`PMID 14761891`_] * 2 of the 8 MiRP2 extracellular domain acidic residues (D54 and D55) are important for KCNQ1-MiRP2 constitutive activation. [`PMID 20040519`_] * regulation by PKA-dependent phosphorylation requires a macromolecular complex that includes PKA, PP1, and the targeting protein yotiao [`PMID 11799244`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 11799244`_] * Affinity Capture-Western [`PMID 11799244`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 11799244`_] * Affinity Capture-Western; Reconstituted Complex [`PMID 11799244`_] * provide a mechanistic basis for the pathogenesis of long QT syndrome caused by a splicing mutation in KCNQ1 [`PMID 17292394`_] * Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [`PMID 21063774`_] * first report of both Romano Ward and Jervell Lange Nielsen syndromes in siblings with the same KCNQ1 gene mutation [`PMID 20138589`_] * Variation in KCNQ1 is associated with therapeutic response to sulphonylureas in \ ``diabetes``\ mellitus type 2. [`PMID 21709633`_] * Characterization of a binding site for anionic phospholipids on KCNQ1. [`PMID 21084310`_] * Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing. [`PMID 20186784`_] * The researchers found an association between LQTS mutation KCNQ1-T587M and the potential for malignant phenotype in long Qt syndrome patients. [`PMID 19959132`_] * Long-term follow-up of a LQT1 family with two KCNQ1amino acid alterations in cis (V254M-V417M); the V254M mutation introduced into Xenopus oocytes reduced the IKs current, while the effect of the V417M variant was negligible [`PMID 14756674`_] * Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 15534720`_] * Polymorphisms within the KCNQ1 gene are associated with susceptibility Noise-induced hearing loss. [`PMID 16823764`_] * W248F KCNQ1 plus KCNE1 channels reconstitute hardly measurable I(Ks) currents in Jervell and Lange Nielsen syndrome [`PMID 18441444`_] * Identified is a KCNQ1 missense mutation, KCNQ1 S277L, in a patient presenting with recurrent syncope triggered by emotional stress (QTc=528ms). [`PMID 21241800`_] * Kcnq1 analysis shows that methylation occurs as a consequence of silencing [`PMID 12511562`_] * Data indicate that genetic variants near the KCNQ1 and MAF/WWOX genes are associated with reduced \ ``insulin``\ secretion, and the PTPRD genetic variant appears to be associated with progression to \ ``diabetes``\ in Han Chinese. [`PMID 21767287`_] * Functional assessment of a mutation in Kv7.1 identified in a proband with permanent atrial fibrillation and prolonged QT interval is reported. [`PMID 17997361`_] * KCNQ1 polymorphisms shown to be associated with increased risk for T2DM in the recent GWA study might also represent genetic factors contributing to the development of gestational gestational \ ``diabetes``\ in Koreans. [`PMID 19850681`_] * Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [`PMID 20889853`_] * External pH can modify current amplitude and biophysical properties of KCNQ1. KCNE subunits work as molecular switches by modulating the pH sensitivity of human KCNQ1. [`PMID 17310097`_] * splice acceptor site mutation (homozygously) in intron-1 (c.387 -5T>A) causes incomplete transcriptional aberration of the KCNQ1 gene, leaving 10% of the normal allele transcript intact, which restores the hearing function [`PMID 19027783`_] * Generate a closed-state model of the KCNQ1-KCNE1 cytoplasmic region where these protein-protein interactions are poised to slow activation gate opening. [`PMID 20479109`_] * Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [`PMID 20541041`_] * Six new mutations in the KCNQ1 gene: C2505734T, A2753831C in exons and C2505846A, G2753881A, T2755854C, T2755875G in introns. Detected intronic mutations in patients after MI were related to a worse clinical course and frequent occurrence of SCA [`PMID 18651418`_] * although hERG and KCNQ1 closely interact with each other, they form distinct hERG and KCNQ1 channels [`PMID 21844197`_] * LQT1 mutation M520R leads to ER-retention and dysfunctional trafficking of the mutant channel resulting in haploinsufficiency. [`PMID 17482572`_] * our study identified two novel mutations causing LQTS, the L187P mutation in KCNQ1 [`PMID 18808722`_] * We characterize molecular determinants of R-L3 interaction with KCNQ1 channels, use computer modeling to propose a mechanism for drug-induced changes in channel gating, & determine its effect on several long-QT syndrome-associated mutant KCNQ1 channels [`PMID 14576198`_] * We performed mutation analysis for genes implicated in long QT syndrome (KCNQ1, KCNH2, and SCN5A) in 17 sudden unexplained death autopsy cases. [`PMID 19198868`_] * Results demonstrate that K(V)7.1 surface expression is regulated by signaling mechanisms involved in epithelial cell polarization in particular signaling cascades involving protein kinase C and PI3K. [`PMID 21228319`_] * arrhythmia-associated mutations in HERG and KCNQ1 were preferentially found at evolutionarily conserved sites and unevenly distributed among functionally conserved domains [`PMID 18590565`_] * Our data thus implicate KCNQ1 as a \ ``diabetes``\ susceptibility gene in groups of different ancestries [`PMID 18711367`_] * we identified KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) to be a strong candidate for conferring susceptibility to type 2 \ ``diabetes``\ . [`PMID 18711366`_] * Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac events during pregnancy and without excess risk of miscarriage; their infants delivered by C-section because of fetal distress are extremely likely to also be mutation carriers [`PMID 17010804`_] * Misexpression of its modulatory wild-type beta-subunit XKCNE1 in the Xenopus embryo resulted in a striking alteration of the behavior of one type of embryonic stem cell: the pigment cell lineage of the neural crest. [`PMID 18931301`_] * Data found striking functional similarities due to mutations in KCNQ1 and NPPA genes which led to I(Ks) "gain-of-function", atrial AP shortening, and consequently altered calcium current as a common mechanism between diverse familial AF syndromes. [`PMID 19646991`_] * this study reveals the specific interaction between the KCNE1 C-terminus and the Kv7.1 dimeric coiled-coil helix C, thereby providing a simple means to guide assembly of the IKS channel complex. [`PMID 19521339`_] * The dominant-negative Y111C-KCNQ1 mutation, associated with a severe phenotype, presents with a low incidence of sudden cardiac death. [`PMID 20031635`_] * These results suggest that KCNE2 can functionally couple to KCNQ1 even in the presence of KCNE1. [`PMID 16631607`_] * both the voltage-dependence and kinetics of gating were found to depend on the relative densities of KCNQ1 and KCNE1, suggesting the heart rhythm may be regulated by the relative expression of the auxiliary subunit [`PMID 20962273`_] * patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupting SNPs, particularly exon 15 in KCNQ1. [`PMID 16818214`_] * Four novel KCNQ1 missense mutations were identified in long QT syndrome in China. [`PMID 12442276`_] * findings indicate that although functional rescue of LQT1 nonsense mutations is possible, it is dependent on the degree of readthrough achieved and the effect on channel function of the amino acid substituted for the premature terminal codon [`PMID 22309168`_] * The Y111C/KCNQ1 mutation is a Swedish long QT syndrome founder mutation that was introduced in the northern population approximately 600 years ago. The Y111C/KCNQ1 founder population constitutes an important asset for future genetic and clinical studies. [`PMID 21129503`_] * Human KCNQ1 S140G is likely to be a causative mutation responsible for atrioventricular blocks. [`PMID 17467630`_] * novel compound heterozygous deletion/splicing error mutations in the KCNQ1 in a Korean family [`PMID 20890437`_] * Data suggest that KCNQ1-KCNE1 complexes interact intermittently with the actin cytoskeleton via the C-terminal region and this interaction may have a functional role. [`PMID 19940153`_] * KCNE4 directly associates with KCNQ1, and can co-associate together with KCNE1 in the same KCNQ1 complex to form a 'triple subunit' complex (KCNE1-KCNQ1-KCNE4). [`PMID 18279388`_] * A common variant in the KCNQ1 gene is associated with increased risk of future type 2 \ ``diabetes``\ in Scandinavians, because of its effect on \ ``insulin``\ secretion. [`PMID 19584308`_] * The researchers identified a family with lone atrial fibrillation caused by a mutation in the highly conserved S3 channel region of KCNQ1. [`PMID 19632626`_] * evidence that not only homozygous but also compound heterozygous mutations in KvLQT1 may cause Jervell and Lange-Nielsen syndrome in nonconsanguineous families [`PMID 12051962`_] * The peculiarities of the KCNQ1 gating process in parallel comparison to Shaker, are described. [`PMID 21320432`_] * Data suggest an imposed requirement for movements of multiple voltage sensors before KCNQ1/KCNE1 channel opening. [`PMID 21149716`_] * Co-activation of hKvLQT1 improves CaCC-mediated Cl- secretion in native CF airway epithelia, and may have a therapeutic effect in the treatment of CF lung disease. [`PMID 12612194`_] * Observational study of genotype prevalence and genetic testing. (HuGE Navigator) [`PMID 16414944`_] * findings together with the identification of several LQT1 mutations in the S6 C-terminus of KCNQ1 underscore the relevance of the S6 C-terminus region in KCNQ1 and IKs channel gating [`PMID 17932138`_] * model allows for widely varying gating behavior, depending on the relative strength of the opening transition, and suggests how KCNQ1 could be controlled by coassembly with different KCNE family members. [`PMID 22509038`_] * A cytoplasmic carboxy-terminal subunit interaction domain (sid) suffices to transfer assembly properties between KCNQ3 and KCNQ1. [`PMID 12524525`_] * Affinity Capture-Western [`PMID 12524525`_] * A woman with a mutation of the KCNQ1 gene was found to have long QT syndrome and primary hyperparathyroidism. [`PMID 17853647`_] * The unique S4 charge paucity of KCNQ1 facilitates its unique conversion to a leak channel by ancillary subunits such as MiRP2. [`PMID 17227916`_] * KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1. [`PMID 21118809`_] * Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 20879858`_] * Under heterozygous conditions, the expression of A341V+KCNQ1+KCNE1 reduced but did not abolish the electrophysiological changes observed in A341V+KCNE1. A dominant negative effect of A341V was also observed [`PMID 21854832`_] * The results show that KCNQ1 single nucleotide polymorphisms cause lower expression of 3'UTR in type 1 long QT [`PMID 22199116`_] * A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia. [`PMID 18580685`_] * In post-MI patients two two intronic polymorphisms, in KCNQ1, were detected. H558R was associated with an increase in QT dispersion at minimum and maximum heart rate and QT interval prolongation before premature ventricular beats [`PMID 18803136`_] * Common genetic variation in KCNQ1 is associated with \ ``insulin``\ secretion upon oral \ ``glucose``\ load in a German population at increased risk of type 2 \ ``diabetes``\ . [`PMID 19366866`_] * When reconstituted in Chinese hamster ovary cells, long-Qt syndrome KCNQ1 mutant channels showed complex gating defects without dominant negative effects or a relatively mild decreased current density. [`PMID 19843919`_] * Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 20628086`_] * interaction of MiRP2-72 with KCNQ1-338; and MinK-59,58 with KCNQ1-339, 340 [`PMID 16308347`_] * Pore mutants of HERG and KvLQT1 downregulate the reciprocal currents in stable cell lines. [`PMID 20833965`_] * although KCNE1 relies on KCNQ1 coassembly for more efficient cell surface expression, KCNE2 can independently traffic to the cell surface, thus becoming available for substituting KCNE1 in the IKs channel complex [`PMID 19372218`_] * postrepolarization refractoriness to I(Ks) (coassembly of KCNQ1 and KCNE1 )can promote wavebreak formation and fibrillatory conduction during pacing and sustained reentry and may have important implications in tachyarrhythmias [`PMID 17626898`_] * The researchers found an association between gene deletions and duplications in the KCNQ1 gene and the risk of long QT syndrome. [`PMID 18774102`_] * The components of the cardiac slow rectifier channel are discussed. [`PMID 17980676`_] * identification of secondary structure within the KCNE1 C-terminal domain provides structural scaffold to map protein-protein interactions with the pore-forming KCNQ1 subunit as well as the cytoplasmic regulatory proteins anchored to KCNQ1-KCNE complexes. [`PMID 17130521`_] * Cys145 can form disulfide bonds with 40C and 41C, but not E1 42C or 43C of the KCNE1 suggesting that E1 is located between S1, S4, and S6 of three separate Q1 subunits in the IKs channel complex [`PMID 18504315`_] * Expression of KCNQ1 and KCNE1 associated with early stages of spermatogenesis and with presence of undifferentiated healthy or neoplastic germ cells. KCNQ1/KCNE1 may be involved in K+ transport, probably during germ-cell development. [`PMID 15389592`_] * Results suggest that KCNQ1 genotype and biophysical phenotype analysis may be useful for risk stratification of LQT1 patients and suggest that slow channel activation is associated with an increased risk of cardiac events. [`PMID 21451124`_] * While assembly of KCNE1 with KCNQ1 does not require co-translation, functional KCNQ1-KCNE1 channels assemble early in the secretory pathway and reach the plasma membrane via vesicular trafficking. [`PMID 20139709`_] * Among KCNQ1 single mutation carriers, gastrin levels were normal and did not appear to be linked to the severity of clinical expression of long QT syndrome. [`PMID 21118729`_] * Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 20174558`_] * Study demonstrates a colse link beween single nucleotide polymorphisms in KCNQ1 and gestational diagetes mellitus. [`PMID 19714318`_] * 26 South African LQTS families all segregating the same KCNQ1 mutation (A341V) caused by a founder effect. The disease allele in all of these families descends from a common ancestor [`PMID 19880070`_] * mutational analysis in a family with Romano-Ward syndrome [`PMID 15511625`_] * Cell membrane stretch and cell volume sensitivity are independently regulated by KCNMB1 (BK) and KCNQ1 channels, respectively. [`PMID 19289549`_] * Observational study of genotype prevalence. (HuGE Navigator) [`PMID 17905336`_] * 7 of the missense mutations have profound pathological dominant-negative loss-of-function properties, confirming their likely disease-causing nature [`PMID 19808498`_] * data also identify F340 as a critical hub for KCNQ1 gating processes [`PMID 18567635`_] * analysis of data from 186 Jervell and Lange-Nielsen syndrome patients; most mutations (90.5%) are on the KCNQ1 gene; mutations on the KCNE1 gene are associated with a more benign course [`PMID 17646758`_] * Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) [`PMID 16540748`_] * Genetic testing in this long-QT Syndrome population suggests a common KCNQ1 Leu266Pro founder effect [`PMID 19817925`_] * the hot spot KCNQ1-A341V predicts high clinical severity of long-QT syndrome independently of the ethnic origin of the families [`PMID 17984373`_] * 4 of 5 mutations in KCNQ1 that associate with gain-of-function KCNQ1 defects are predicted to share common interface in open state structure between S1 segment of voltage sensor in 1 subunit & both S5 segment & top of pore helix from another subunit. [`PMID 17999538`_] * KCNQ1 gene is imprinted in a tissue-specific manner, with preferential expression from the maternal allele in some tissues, excluding cardiac muscle. [`PMID 9020845`_] * Propose that the KCNQ1-KCNE1 channel directly interacts with microtubules and that this interaction plays a major role in coupling PKA-dependent phosphorylation of KCNQ1 with I(Ks) activation. [`PMID 18390900`_] * Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause Jervell and Lange-Nielsen syndrome (JLNS). [`PMID 14510661`_] * genetic perturbations in AKAP9 disrupt its binding to KCNQ1 and have a role in long-QT syndrome [`PMID 18093912`_] * Data show that KCNQ1 mRNA expression was increased and KCNQ5 decreased in the preterm preeclamptic women. [`PMID 21730298`_] * We conclude that tyrphostin A25 inhibits KCNQ1/KCNE1 current by lowering tyrosine phosphorylation on unidentified nonchannel protein(s) that directly or indirectly regulate the open probability of the KCNQ1 pore in a PIP(2)-independent manner. [`PMID 19139916`_] .. _PMID 14743216: http://www.ncbi.nlm.nih.gov/pubmed/14743216 .. _PMID 20662986: http://www.ncbi.nlm.nih.gov/pubmed/20662986 .. _PMID 21212535: http://www.ncbi.nlm.nih.gov/pubmed/21212535 .. _PMID 17161064: http://www.ncbi.nlm.nih.gov/pubmed/17161064 .. _PMID 16563243: http://www.ncbi.nlm.nih.gov/pubmed/16563243 .. _PMID 21810471: http://www.ncbi.nlm.nih.gov/pubmed/21810471 .. _PMID 19202166: http://www.ncbi.nlm.nih.gov/pubmed/19202166 .. _PMID 15226366: http://www.ncbi.nlm.nih.gov/pubmed/15226366 .. _PMID 18599533: http://www.ncbi.nlm.nih.gov/pubmed/18599533 .. _PMID 20379614: http://www.ncbi.nlm.nih.gov/pubmed/20379614 .. _PMID 22206064: http://www.ncbi.nlm.nih.gov/pubmed/22206064 .. _PMID 19056345: http://www.ncbi.nlm.nih.gov/pubmed/19056345 .. _PMID 20421371: http://www.ncbi.nlm.nih.gov/pubmed/20421371 .. _PMID 17596298: http://www.ncbi.nlm.nih.gov/pubmed/17596298 .. _PMID 21084694: http://www.ncbi.nlm.nih.gov/pubmed/21084694 .. _PMID 18757482: http://www.ncbi.nlm.nih.gov/pubmed/18757482 .. _PMID 19956635: http://www.ncbi.nlm.nih.gov/pubmed/19956635 .. _PMID 12522251: http://www.ncbi.nlm.nih.gov/pubmed/12522251 .. _PMID 11743032: http://www.ncbi.nlm.nih.gov/pubmed/11743032 .. _PMID 19575309: http://www.ncbi.nlm.nih.gov/pubmed/19575309 .. _PMID 19556355: http://www.ncbi.nlm.nih.gov/pubmed/19556355 .. _PMID 17384445: http://www.ncbi.nlm.nih.gov/pubmed/17384445 .. _PMID 16556866: http://www.ncbi.nlm.nih.gov/pubmed/16556866 .. _PMID 16556865: http://www.ncbi.nlm.nih.gov/pubmed/16556865 .. _PMID 19149796: http://www.ncbi.nlm.nih.gov/pubmed/19149796 .. _PMID 17676362: http://www.ncbi.nlm.nih.gov/pubmed/17676362 .. _PMID 19907016: http://www.ncbi.nlm.nih.gov/pubmed/19907016 .. _PMID 15234419: http://www.ncbi.nlm.nih.gov/pubmed/15234419 .. _PMID 19934648: http://www.ncbi.nlm.nih.gov/pubmed/19934648 .. _PMID 20940310: http://www.ncbi.nlm.nih.gov/pubmed/20940310 .. _PMID 19131515: http://www.ncbi.nlm.nih.gov/pubmed/19131515 .. _PMID 18400097: http://www.ncbi.nlm.nih.gov/pubmed/18400097 .. _PMID 21416855: http://www.ncbi.nlm.nih.gov/pubmed/21416855 .. _PMID 19590188: http://www.ncbi.nlm.nih.gov/pubmed/19590188 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 20044973: http://www.ncbi.nlm.nih.gov/pubmed/20044973 .. _PMID 20400777: http://www.ncbi.nlm.nih.gov/pubmed/20400777 .. _PMID 21185499: http://www.ncbi.nlm.nih.gov/pubmed/21185499 .. _PMID 20533308: http://www.ncbi.nlm.nih.gov/pubmed/20533308 .. _PMID 19448982: http://www.ncbi.nlm.nih.gov/pubmed/19448982 .. _PMID 19308350: http://www.ncbi.nlm.nih.gov/pubmed/19308350 .. _PMID 16253915: http://www.ncbi.nlm.nih.gov/pubmed/16253915 .. _PMID 19798621: http://www.ncbi.nlm.nih.gov/pubmed/19798621 .. _PMID 19540844: http://www.ncbi.nlm.nih.gov/pubmed/19540844 .. _PMID 21063070: http://www.ncbi.nlm.nih.gov/pubmed/21063070 .. _PMID 17698596: http://www.ncbi.nlm.nih.gov/pubmed/17698596 .. _PMID 22403629: http://www.ncbi.nlm.nih.gov/pubmed/22403629 .. _PMID 19305409: http://www.ncbi.nlm.nih.gov/pubmed/19305409 .. _PMID 21164565: http://www.ncbi.nlm.nih.gov/pubmed/21164565 .. _PMID 19516902: http://www.ncbi.nlm.nih.gov/pubmed/19516902 .. _PMID 18611041: http://www.ncbi.nlm.nih.gov/pubmed/18611041 .. _PMID 20512086: http://www.ncbi.nlm.nih.gov/pubmed/20512086 .. _PMID 19252135: http://www.ncbi.nlm.nih.gov/pubmed/19252135 .. _PMID 16880338: http://www.ncbi.nlm.nih.gov/pubmed/16880338 .. _PMID 21059661: http://www.ncbi.nlm.nih.gov/pubmed/21059661 .. _PMID 21957902: http://www.ncbi.nlm.nih.gov/pubmed/21957902 .. _PMID 19218243: http://www.ncbi.nlm.nih.gov/pubmed/19218243 .. _PMID 17016049: http://www.ncbi.nlm.nih.gov/pubmed/17016049 .. _PMID 18079560: http://www.ncbi.nlm.nih.gov/pubmed/18079560 .. _PMID 15340049: http://www.ncbi.nlm.nih.gov/pubmed/15340049 .. _PMID 20606385: http://www.ncbi.nlm.nih.gov/pubmed/20606385 .. _PMID 20056949: http://www.ncbi.nlm.nih.gov/pubmed/20056949 .. _PMID 15649981: http://www.ncbi.nlm.nih.gov/pubmed/15649981 .. _PMID 14731347: http://www.ncbi.nlm.nih.gov/pubmed/14731347 .. _PMID 18192214: http://www.ncbi.nlm.nih.gov/pubmed/18192214 .. _PMID 21459285: http://www.ncbi.nlm.nih.gov/pubmed/21459285 .. _PMID 15707997: http://www.ncbi.nlm.nih.gov/pubmed/15707997 .. _PMID 16129795: http://www.ncbi.nlm.nih.gov/pubmed/16129795 .. _PMID 21261977: http://www.ncbi.nlm.nih.gov/pubmed/21261977 .. _PMID 19077539: http://www.ncbi.nlm.nih.gov/pubmed/19077539 .. _PMID 22250012: http://www.ncbi.nlm.nih.gov/pubmed/22250012 .. _PMID 20861072: http://www.ncbi.nlm.nih.gov/pubmed/20861072 .. _PMID 19006182: http://www.ncbi.nlm.nih.gov/pubmed/19006182 .. _PMID 19029186: http://www.ncbi.nlm.nih.gov/pubmed/19029186 .. _PMID 16132053: http://www.ncbi.nlm.nih.gov/pubmed/16132053 .. _PMID 15459184: http://www.ncbi.nlm.nih.gov/pubmed/15459184 .. _PMID 15924777: http://www.ncbi.nlm.nih.gov/pubmed/15924777 .. _PMID 12670483: http://www.ncbi.nlm.nih.gov/pubmed/12670483 .. _PMID 20850564: http://www.ncbi.nlm.nih.gov/pubmed/20850564 .. _PMID 18308161: http://www.ncbi.nlm.nih.gov/pubmed/18308161 .. _PMID 21231794: http://www.ncbi.nlm.nih.gov/pubmed/21231794 .. _PMID 19156197: http://www.ncbi.nlm.nih.gov/pubmed/19156197 .. _PMID 19490272: http://www.ncbi.nlm.nih.gov/pubmed/19490272 .. _PMID 21070882: http://www.ncbi.nlm.nih.gov/pubmed/21070882 .. _PMID 17470695: http://www.ncbi.nlm.nih.gov/pubmed/17470695 .. _PMID 17916649: http://www.ncbi.nlm.nih.gov/pubmed/17916649 .. _PMID 22095730: http://www.ncbi.nlm.nih.gov/pubmed/22095730 .. _PMID 22456477: http://www.ncbi.nlm.nih.gov/pubmed/22456477 .. _PMID 12482884: http://www.ncbi.nlm.nih.gov/pubmed/12482884 .. _PMID 18174212: http://www.ncbi.nlm.nih.gov/pubmed/18174212 .. _PMID 12080180: http://www.ncbi.nlm.nih.gov/pubmed/12080180 .. _PMID 20368164: http://www.ncbi.nlm.nih.gov/pubmed/20368164 .. _PMID 21691061: http://www.ncbi.nlm.nih.gov/pubmed/21691061 .. _PMID 19340287: http://www.ncbi.nlm.nih.gov/pubmed/19340287 .. _PMID 11101505: http://www.ncbi.nlm.nih.gov/pubmed/11101505 .. _PMID 19913547: http://www.ncbi.nlm.nih.gov/pubmed/19913547 .. _PMID 19167356: http://www.ncbi.nlm.nih.gov/pubmed/19167356 .. _PMID 16610241: http://www.ncbi.nlm.nih.gov/pubmed/16610241 .. _PMID 20085748: http://www.ncbi.nlm.nih.gov/pubmed/20085748 .. _PMID 18596570: http://www.ncbi.nlm.nih.gov/pubmed/18596570 .. _PMID 19114714: http://www.ncbi.nlm.nih.gov/pubmed/19114714 .. _PMID 18713323: http://www.ncbi.nlm.nih.gov/pubmed/18713323 .. _PMID 19261104: http://www.ncbi.nlm.nih.gov/pubmed/19261104 .. _PMID 15242738: http://www.ncbi.nlm.nih.gov/pubmed/15242738 .. _PMID 17210839: http://www.ncbi.nlm.nih.gov/pubmed/17210839 .. _PMID 11877438: http://www.ncbi.nlm.nih.gov/pubmed/11877438 .. _PMID 20920651: http://www.ncbi.nlm.nih.gov/pubmed/20920651 .. _PMID 19825999: http://www.ncbi.nlm.nih.gov/pubmed/19825999 .. _PMID 11761407: http://www.ncbi.nlm.nih.gov/pubmed/11761407 .. _PMID 16987820: http://www.ncbi.nlm.nih.gov/pubmed/16987820 .. _PMID 20701788: http://www.ncbi.nlm.nih.gov/pubmed/20701788 .. _PMID 18266681: http://www.ncbi.nlm.nih.gov/pubmed/18266681 .. _PMID 16246960: http://www.ncbi.nlm.nih.gov/pubmed/16246960 .. _PMID 18991055: http://www.ncbi.nlm.nih.gov/pubmed/18991055 .. _PMID 15746444: http://www.ncbi.nlm.nih.gov/pubmed/15746444 .. _PMID 15696484: http://www.ncbi.nlm.nih.gov/pubmed/15696484 .. _PMID 19716085: http://www.ncbi.nlm.nih.gov/pubmed/19716085 .. _PMID 15904893: http://www.ncbi.nlm.nih.gov/pubmed/15904893 .. _PMID 12820704: http://www.ncbi.nlm.nih.gov/pubmed/12820704 .. _PMID 22024150: http://www.ncbi.nlm.nih.gov/pubmed/22024150 .. _PMID 21355884: http://www.ncbi.nlm.nih.gov/pubmed/21355884 .. _PMID 19348785: http://www.ncbi.nlm.nih.gov/pubmed/19348785 .. _PMID 20981542: http://www.ncbi.nlm.nih.gov/pubmed/20981542 .. _PMID 17544529: http://www.ncbi.nlm.nih.gov/pubmed/17544529 .. _PMID 15028050: http://www.ncbi.nlm.nih.gov/pubmed/15028050 .. _PMID 14761891: http://www.ncbi.nlm.nih.gov/pubmed/14761891 .. _PMID 20040519: http://www.ncbi.nlm.nih.gov/pubmed/20040519 .. _PMID 11799244: http://www.ncbi.nlm.nih.gov/pubmed/11799244 .. _PMID 17292394: http://www.ncbi.nlm.nih.gov/pubmed/17292394 .. _PMID 21063774: http://www.ncbi.nlm.nih.gov/pubmed/21063774 .. _PMID 20138589: http://www.ncbi.nlm.nih.gov/pubmed/20138589 .. _PMID 21709633: http://www.ncbi.nlm.nih.gov/pubmed/21709633 .. _PMID 21084310: http://www.ncbi.nlm.nih.gov/pubmed/21084310 .. _PMID 20186784: http://www.ncbi.nlm.nih.gov/pubmed/20186784 .. _PMID 19959132: http://www.ncbi.nlm.nih.gov/pubmed/19959132 .. _PMID 14756674: http://www.ncbi.nlm.nih.gov/pubmed/14756674 .. _PMID 15534720: http://www.ncbi.nlm.nih.gov/pubmed/15534720 .. _PMID 16823764: http://www.ncbi.nlm.nih.gov/pubmed/16823764 .. _PMID 18441444: http://www.ncbi.nlm.nih.gov/pubmed/18441444 .. _PMID 21241800: http://www.ncbi.nlm.nih.gov/pubmed/21241800 .. _PMID 12511562: http://www.ncbi.nlm.nih.gov/pubmed/12511562 .. _PMID 21767287: http://www.ncbi.nlm.nih.gov/pubmed/21767287 .. _PMID 17997361: http://www.ncbi.nlm.nih.gov/pubmed/17997361 .. _PMID 19850681: http://www.ncbi.nlm.nih.gov/pubmed/19850681 .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 17310097: http://www.ncbi.nlm.nih.gov/pubmed/17310097 .. _PMID 19027783: http://www.ncbi.nlm.nih.gov/pubmed/19027783 .. _PMID 20479109: http://www.ncbi.nlm.nih.gov/pubmed/20479109 .. _PMID 20541041: http://www.ncbi.nlm.nih.gov/pubmed/20541041 .. _PMID 18651418: http://www.ncbi.nlm.nih.gov/pubmed/18651418 .. _PMID 21844197: http://www.ncbi.nlm.nih.gov/pubmed/21844197 .. _PMID 17482572: http://www.ncbi.nlm.nih.gov/pubmed/17482572 .. _PMID 18808722: http://www.ncbi.nlm.nih.gov/pubmed/18808722 .. _PMID 14576198: http://www.ncbi.nlm.nih.gov/pubmed/14576198 .. _PMID 19198868: http://www.ncbi.nlm.nih.gov/pubmed/19198868 .. _PMID 21228319: http://www.ncbi.nlm.nih.gov/pubmed/21228319 .. _PMID 18590565: http://www.ncbi.nlm.nih.gov/pubmed/18590565 .. _PMID 18711367: http://www.ncbi.nlm.nih.gov/pubmed/18711367 .. _PMID 18711366: http://www.ncbi.nlm.nih.gov/pubmed/18711366 .. _PMID 17010804: http://www.ncbi.nlm.nih.gov/pubmed/17010804 .. _PMID 18931301: http://www.ncbi.nlm.nih.gov/pubmed/18931301 .. _PMID 19646991: http://www.ncbi.nlm.nih.gov/pubmed/19646991 .. _PMID 19521339: http://www.ncbi.nlm.nih.gov/pubmed/19521339 .. _PMID 20031635: http://www.ncbi.nlm.nih.gov/pubmed/20031635 .. _PMID 16631607: http://www.ncbi.nlm.nih.gov/pubmed/16631607 .. _PMID 20962273: http://www.ncbi.nlm.nih.gov/pubmed/20962273 .. _PMID 16818214: http://www.ncbi.nlm.nih.gov/pubmed/16818214 .. _PMID 12442276: http://www.ncbi.nlm.nih.gov/pubmed/12442276 .. _PMID 22309168: http://www.ncbi.nlm.nih.gov/pubmed/22309168 .. _PMID 21129503: http://www.ncbi.nlm.nih.gov/pubmed/21129503 .. _PMID 17467630: http://www.ncbi.nlm.nih.gov/pubmed/17467630 .. _PMID 20890437: http://www.ncbi.nlm.nih.gov/pubmed/20890437 .. _PMID 19940153: http://www.ncbi.nlm.nih.gov/pubmed/19940153 .. _PMID 18279388: http://www.ncbi.nlm.nih.gov/pubmed/18279388 .. _PMID 19584308: http://www.ncbi.nlm.nih.gov/pubmed/19584308 .. _PMID 19632626: http://www.ncbi.nlm.nih.gov/pubmed/19632626 .. _PMID 12051962: http://www.ncbi.nlm.nih.gov/pubmed/12051962 .. _PMID 21320432: http://www.ncbi.nlm.nih.gov/pubmed/21320432 .. _PMID 21149716: http://www.ncbi.nlm.nih.gov/pubmed/21149716 .. _PMID 12612194: http://www.ncbi.nlm.nih.gov/pubmed/12612194 .. _PMID 16414944: http://www.ncbi.nlm.nih.gov/pubmed/16414944 .. _PMID 17932138: http://www.ncbi.nlm.nih.gov/pubmed/17932138 .. _PMID 22509038: http://www.ncbi.nlm.nih.gov/pubmed/22509038 .. _PMID 12524525: http://www.ncbi.nlm.nih.gov/pubmed/12524525 .. _PMID 17853647: http://www.ncbi.nlm.nih.gov/pubmed/17853647 .. _PMID 17227916: http://www.ncbi.nlm.nih.gov/pubmed/17227916 .. _PMID 21118809: http://www.ncbi.nlm.nih.gov/pubmed/21118809 .. _PMID 20879858: http://www.ncbi.nlm.nih.gov/pubmed/20879858 .. _PMID 21854832: http://www.ncbi.nlm.nih.gov/pubmed/21854832 .. _PMID 22199116: http://www.ncbi.nlm.nih.gov/pubmed/22199116 .. _PMID 18580685: http://www.ncbi.nlm.nih.gov/pubmed/18580685 .. _PMID 18803136: http://www.ncbi.nlm.nih.gov/pubmed/18803136 .. _PMID 19366866: http://www.ncbi.nlm.nih.gov/pubmed/19366866 .. _PMID 19843919: http://www.ncbi.nlm.nih.gov/pubmed/19843919 .. _PMID 20628086: http://www.ncbi.nlm.nih.gov/pubmed/20628086 .. _PMID 16308347: http://www.ncbi.nlm.nih.gov/pubmed/16308347 .. _PMID 20833965: http://www.ncbi.nlm.nih.gov/pubmed/20833965 .. _PMID 19372218: http://www.ncbi.nlm.nih.gov/pubmed/19372218 .. _PMID 17626898: http://www.ncbi.nlm.nih.gov/pubmed/17626898 .. _PMID 18774102: http://www.ncbi.nlm.nih.gov/pubmed/18774102 .. _PMID 17980676: http://www.ncbi.nlm.nih.gov/pubmed/17980676 .. _PMID 17130521: http://www.ncbi.nlm.nih.gov/pubmed/17130521 .. _PMID 18504315: http://www.ncbi.nlm.nih.gov/pubmed/18504315 .. _PMID 15389592: http://www.ncbi.nlm.nih.gov/pubmed/15389592 .. _PMID 21451124: http://www.ncbi.nlm.nih.gov/pubmed/21451124 .. _PMID 20139709: http://www.ncbi.nlm.nih.gov/pubmed/20139709 .. _PMID 21118729: http://www.ncbi.nlm.nih.gov/pubmed/21118729 .. _PMID 20174558: http://www.ncbi.nlm.nih.gov/pubmed/20174558 .. _PMID 19714318: http://www.ncbi.nlm.nih.gov/pubmed/19714318 .. _PMID 19880070: http://www.ncbi.nlm.nih.gov/pubmed/19880070 .. _PMID 15511625: http://www.ncbi.nlm.nih.gov/pubmed/15511625 .. _PMID 19289549: http://www.ncbi.nlm.nih.gov/pubmed/19289549 .. _PMID 17905336: http://www.ncbi.nlm.nih.gov/pubmed/17905336 .. _PMID 19808498: http://www.ncbi.nlm.nih.gov/pubmed/19808498 .. _PMID 18567635: http://www.ncbi.nlm.nih.gov/pubmed/18567635 .. _PMID 17646758: http://www.ncbi.nlm.nih.gov/pubmed/17646758 .. _PMID 16540748: http://www.ncbi.nlm.nih.gov/pubmed/16540748 .. _PMID 19817925: http://www.ncbi.nlm.nih.gov/pubmed/19817925 .. _PMID 17984373: http://www.ncbi.nlm.nih.gov/pubmed/17984373 .. _PMID 17999538: http://www.ncbi.nlm.nih.gov/pubmed/17999538 .. _PMID 9020845: http://www.ncbi.nlm.nih.gov/pubmed/9020845 .. _PMID 18390900: http://www.ncbi.nlm.nih.gov/pubmed/18390900 .. _PMID 14510661: http://www.ncbi.nlm.nih.gov/pubmed/14510661 .. _PMID 18093912: http://www.ncbi.nlm.nih.gov/pubmed/18093912 .. _PMID 21730298: http://www.ncbi.nlm.nih.gov/pubmed/21730298 .. _PMID 19139916: http://www.ncbi.nlm.nih.gov/pubmed/19139916 .. _KCNQ1 Pubmed: PubMed Articles *************** *Recent articles:* * Osteen JD et al. "Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels." Proc Natl Acad Sci U S A. 2012 May 1;109(18):7103-8. `PMID 22509038`_ * Harmer SC et al. "Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel." Biochem J. 2012 May 1;443(3):635-42. `PMID 22309168`_ * Barsheshet A et al. "Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome." Circulation. 2012 Apr 24;125(16):1988-96. `PMID 22456477`_ * van Vliet-Ostaptchouk JV et al. "Common variants in the type 2 diabetes KCNQ1 gene are associated with impairments in insulin secretion during hyperglycaemic glucose clamp." PLoS One. 2012;7(3):e32148. `PMID 22403629`_ * Krzystanek K et al. "Deubiquitylating enzyme USP2 counteracts Nedd4-2-mediated downregulation of KCNQ1 potassium channels." Heart Rhythm. 2012 Mar;9(3):440-8. `PMID 22024150`_ * Amin AS et al. "Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner." Eur Heart J. 2012 Mar;33(6):714-23. `PMID 22199116`_ * Chan PJ et al. "Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1." J Gen Physiol. 2012 Feb;139(2):135-44. `PMID 22250012`_ * Heijman J et al. "Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1." Circ Res. 2012 Jan 20;110(2):211-9. `PMID 22095730`_ * Andersen MN et al. "AMP-activated protein kinase downregulates Kv7.1 cell surface expression." Traffic. 2012 Jan;13(1):143-56. `PMID 21957902`_ * Saif-Ali R et al. "KCNQ1 variants associate with type 2 diabetes in Malaysian Malay subjects." Ann Acad Med Singapore. 2011 Nov;40(11):488-92. `PMID 22206064`_ .. _PMID 22403629: http://www.ncbi.nlm.nih.gov/pubmed/22403629 .. _PMID 22250012: http://www.ncbi.nlm.nih.gov/pubmed/22250012 .. _PMID 22095730: http://www.ncbi.nlm.nih.gov/pubmed/22095730 .. _PMID 22456477: http://www.ncbi.nlm.nih.gov/pubmed/22456477 .. _PMID 22024150: http://www.ncbi.nlm.nih.gov/pubmed/22024150 .. _PMID 22509038: http://www.ncbi.nlm.nih.gov/pubmed/22509038 .. _PMID 22309168: http://www.ncbi.nlm.nih.gov/pubmed/22309168 .. _PMID 22206064: http://www.ncbi.nlm.nih.gov/pubmed/22206064 .. _PMID 21957902: http://www.ncbi.nlm.nih.gov/pubmed/21957902 .. _PMID 22199116: http://www.ncbi.nlm.nih.gov/pubmed/22199116 *Top Pubmed articles linked to gene KCNQ1 matching any search term:* * Lim XL et al. "KCNQ1 SNPS and susceptibility to diabetic nephropathy in East Asians with type 2 diabetes." Diabetologia. 2012 Sep;55(9):2402-6. `PMID 22696034`_ * Iwata M et al. "Genetic risk score constructed using 14 susceptibility alleles for type 2 diabetes is associated with the early onset of diabetes and may predict the future requirement of insulin injections among Japanese individuals." Diabetes Care. 2012 Aug;35(8):1763-70. `PMID 22688542`_ * Yu W et al. "Association between KCNQ1 genetic variants and obesity in Chinese patients with type 2 diabetes." Diabetologia. 2012 Jul 13;. `PMID 22790062`_ * Rosengren AH et al. "Reduced Insulin Exocytosis in Human Pancreatic β-Cells With Gene Variants Linked to Type 2 Diabetes." Diabetes. 2012 Jul;61(7):1726-33. `PMID 22492527`_ * Linder K et al. "Allele summation of diabetes risk genes predicts impaired glucose tolerance in female and obese individuals." PLoS One. 2012;7(6):e38224. `PMID 22768041`_ * van Vliet-Ostaptchouk JV et al. "Correction: Common Variants in the Type 2 Diabetes KCNQ1 Gene Are Associated with Impairments in Insulin Secretion During Hyperglycaemic Glucose Clamp." PLoS One. 2012;7(6). `PMID 22723821`_ * Salem KA et al. "Shortening and intracellular Ca2+ in ventricular myocytes and expression of genes encoding cardiac muscle proteins in early onset type 2 diabetic Goto-Kakizaki rats." Exp Physiol. 2012 May 11;. `PMID 22581745`_ * Kapoor S et al. "Beyond Diabetes Mellitus: Close Pathological Association of Mutations of the KCNQ1 Gene with Other Systemic Disorders." Ann Acad Med Singapore. 2012 May;41(5):233. `PMID 22760723`_ * Winkler C et al. "Lack of association of type 2 diabetes susceptibility genotypes and body weight on the development of islet autoimmunity and type 1 diabetes." PLoS One. 2012;7(4):e35410. `PMID 22558147`_ * Campbell DD et al. "Amerind ancestry, socioeconomic status and the genetics of type 2 diabetes in a Colombian population." PLoS One. 2012;7(4):e33570. `PMID 22529894`_ * Tavira B et al. "KCNQ1 gene variants and risk of new-onset diabetes in tacrolimus-treated renal-transplanted patients." Clin Transplant. 2011 May-Jun;25(3):E284-91. `PMID 21355884`_ * Dobríková M et al. "[Relationship of the CDKAL1 and KCNQ1 gene polymorphisms to the age at diagnosis of type 2 diabetes in the Slovakian population]." Vnitr Lek. 2011 Feb;57(2):155-8. `PMID 21416855`_ * Been LF et al. "Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: a study of 3,310 subjects from India and the US." BMC Med Genet. 2011 Jan 24;12:18. `PMID 21261977`_ * Kwak SH et al. "Polymorphisms in KCNQ1 are associated with gestational diabetes in a Korean population." Horm Res Paediatr. 2010;74(5):333-8. `PMID 20606385`_ * Voight BF et al. "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet. 2010 Jul;42(7):579-89. `PMID 20581827`_ * Ohshige T et al. "A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes." Diabetes Care. 2010 Apr;33(4):842-6. `PMID 20056949`_ * Tan JT et al. "Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore." J Clin Endocrinol Metab. 2010 Jan;95(1):390-7. `PMID 19892838`_ * Stancáková A et al. "Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men." Diabetes. 2009 Sep;58(9):2129-36. `PMID 19502414`_ * Takeuchi F et al. "Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population." Diabetes. 2009 Jul;58(7):1690-9. `PMID 19401414`_ * Tan JT et al. "Genetic variation in KCNQ1 associates with fasting glucose and beta-cell function: a study of 3,734 subjects comprising three ethnicities living in Singapore." Diabetes. 2009 Jun;58(6):1445-9. `PMID 19252135`_ .. _PMID 19502414: http://www.ncbi.nlm.nih.gov/pubmed/19502414 .. _PMID 19892838: http://www.ncbi.nlm.nih.gov/pubmed/19892838 .. _PMID 22696034: http://www.ncbi.nlm.nih.gov/pubmed/22696034 .. _PMID 22529894: http://www.ncbi.nlm.nih.gov/pubmed/22529894 .. _PMID 19401414: http://www.ncbi.nlm.nih.gov/pubmed/19401414 .. _PMID 20606385: http://www.ncbi.nlm.nih.gov/pubmed/20606385 .. _PMID 20056949: http://www.ncbi.nlm.nih.gov/pubmed/20056949 .. _PMID 21416855: http://www.ncbi.nlm.nih.gov/pubmed/21416855 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 21355884: http://www.ncbi.nlm.nih.gov/pubmed/21355884 .. _PMID 22492527: http://www.ncbi.nlm.nih.gov/pubmed/22492527 .. _PMID 22790062: http://www.ncbi.nlm.nih.gov/pubmed/22790062 .. _PMID 19252135: http://www.ncbi.nlm.nih.gov/pubmed/19252135 .. _PMID 21261977: http://www.ncbi.nlm.nih.gov/pubmed/21261977 .. _PMID 22760723: http://www.ncbi.nlm.nih.gov/pubmed/22760723 .. _PMID 22581745: http://www.ncbi.nlm.nih.gov/pubmed/22581745 .. _PMID 22723821: http://www.ncbi.nlm.nih.gov/pubmed/22723821 .. _PMID 22558147: http://www.ncbi.nlm.nih.gov/pubmed/22558147 .. _PMID 22768041: http://www.ncbi.nlm.nih.gov/pubmed/22768041 .. _PMID 22688542: http://www.ncbi.nlm.nih.gov/pubmed/22688542