KCNQ1

Summary

Gene Symbol: KCNQ1
Description: potassium voltage-gated channel subfamily Q member 1
Alias: ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS, potassium voltage-gated channel subfamily KQT member 1, IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1, kidney and cardiac voltage dependend K+ channel, potassium channel, voltage gated KQT-like subfamily Q, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1, slow delayed rectifier channel subunit, voltage-gated potassium channel subunit Kv7.1
Species: human

Top Publications

  1. pmc KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population
    Wenling Liu
    Cardiology Division, the People s Hospital of Peking University, Beijing, P R China
    Hum Mutat 20:475-6. 2002
  2. pmc Structural models for the KCNQ1 voltage-gated potassium channel
    Jarrod A Smith
    Department of Biochemistry, Vanderbilt University, Nashville, Tennessee 37232 8725, USA
    Biochemistry 46:14141-52. 2007
  3. doi Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
    Kazuki Yasuda
    Department of Metabolic Disorder, Research Institute, International Medical Center of Japan, Tokyo 162 8655, Japan
    Nat Genet 40:1092-7. 2008
  4. doi SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
    Hiroyuki Unoki
    Laboratory for Endocrinology and Metabolism, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230 0045, Japan
    Nat Genet 40:1098-102. 2008
  5. ncbi Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing
    Dipika Sharma
    Department of Internal Medicine, Division of Cardiovascular Medicine, University of California, Davis One Shields Avenue, TB 172 Davis, CA 95616, USA
    J Mol Cell Cardiol 37:79-89. 2004
  6. ncbi PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions
    Alessandra Matavel
    Cardiovascular Research Institute, Department of Medicine, University of Rochester, Rochester, NY, USA
    Channels (Austin) 4:3-11. 2010
  7. pmc A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes
    Toshihiko Ohshige
    Laboratory for Endocrinology andMetabolism, RIKEN Center for GenomicMedicine, Yokohama, Japan
    Diabetes Care 33:842-6. 2010
  8. ncbi Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk
    C Chouabe
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS, Sophia Antipolis, France
    Cardiovasc Res 45:971-80. 2000
  9. pmc 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
    Alena Stancakova
    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland
    Diabetes 58:2129-36. 2009
  10. ncbi Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population
    Laetitia Gouas
    INSERM U582, Institut de Myologie, IFR 14, UPMC, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Eur J Hum Genet 13:1213-22. 2005

Research Grants

  1. Factors that Initiate Arrhythamias in Long QT Syndrome
    Guy Salama; Fiscal Year: 2006
  2. Carlos G Vanoye; Fiscal Year: 2014
  3. High Throughput Screening for Chemical Modifiers of Long QT Syndrome
    David J Milan; Fiscal Year: 2013
  4. Development of Chemical Probes for KCNQ Potassium Channels
    Min Li; Fiscal Year: 2009
  5. Excitability mechanisms of neurocardiac regulation
    ALBERT E GLASSCOCK; Fiscal Year: 2012
  6. Heart and Muscle K+ Channels: Assembly and Regulation
    Gideon Koren; Fiscal Year: 2013
  7. ALBERT E GLASSCOCK; Fiscal Year: 2015
  8. Sanda Despa; Fiscal Year: 2015
  9. The role of dynamic changes in repolarization and calcium transients in Long QT r
    Bum Rak Choi; Fiscal Year: 2013
  10. Sex Differences in Molecular Heterogeneity of Cardiac Repolarization
    Glenna C L Bett; Fiscal Year: 2012

Detail Information

Publications252 found, 100 shown here

  1. pmc KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population
    Wenling Liu
    Cardiology Division, the People s Hospital of Peking University, Beijing, P R China
    Hum Mutat 20:475-6. 2002
    ..in ion channel genes including the cardiac sodium channel gene SCN5A, and potassium channel subunit genes KCNQ1, KCNH2, KCNE1, and KCNE2. Little information is available about LQTS mutations in the Chinese population...
  2. pmc Structural models for the KCNQ1 voltage-gated potassium channel
    Jarrod A Smith
    Department of Biochemistry, Vanderbilt University, Nashville, Tennessee 37232 8725, USA
    Biochemistry 46:14141-52. 2007
    Mutations in the human voltage-gated potassium channel KCNQ1 are associated with predisposition to deafness and various cardiac arrhythmia syndromes including congenital long QT syndrome, familial atrial fibrillation, and sudden infant ..
  3. doi Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
    Kazuki Yasuda
    Department of Metabolic Disorder, Research Institute, International Medical Center of Japan, Tokyo 162 8655, Japan
    Nat Genet 40:1092-7. 2008
    ..The most significant association was obtained with SNPs in KCNQ1, and dense mapping within the gene revealed that rs2237892 in intron 15 showed the lowest Pvalue (6...
  4. doi SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
    Hiroyuki Unoki
    Laboratory for Endocrinology and Metabolism, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230 0045, Japan
    Nat Genet 40:1098-102. 2008
    ..using 207,097 SNP markers in Japanese individuals with type 2 diabetes and unrelated controls, and identified KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) to be a strong candidate for conferring ..
  5. ncbi Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing
    Dipika Sharma
    Department of Internal Medicine, Division of Cardiovascular Medicine, University of California, Davis One Shields Avenue, TB 172 Davis, CA 95616, USA
    J Mol Cell Cardiol 37:79-89. 2004
    ..Mutations in several ion channel genes have been discovered in different families with LQTS: KCNQ1 (KVLQT1, LQT1), KCNH2 (HERG, LQT2), SCN5A (LQT3), KCNE1 (minK, LQT5), and KCNE2 (MiRP1, LQT6)...
  6. ncbi PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions
    Alessandra Matavel
    Cardiovascular Research Institute, Department of Medicine, University of Rochester, Rochester, NY, USA
    Channels (Austin) 4:3-11. 2010
    ..The most commonly inherited form of long-QT syndrome, LQT1, is due to mutations on the potassium channel gene KCNQ1, which forms one of the main repolarizing cardiac K(+) channels, IKs...
  7. pmc A single nucleotide polymorphism in KCNQ1 is associated with susceptibility to diabetic nephropathy in japanese subjects with type 2 diabetes
    Toshihiko Ohshige
    Laboratory for Endocrinology andMetabolism, RIKEN Center for GenomicMedicine, Yokohama, Japan
    Diabetes Care 33:842-6. 2010
    Genetic factors have been considered to contribute to the development and progression of diabetic nephropathy. The KCNQ1 gene (potassium voltage-gated channel, KQT-like subfamily, member 1) was originally identified as a strong ..
  8. ncbi Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk
    C Chouabe
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS, Sophia Antipolis, France
    Cardiovasc Res 45:971-80. 2000
    We report the functional expression of four KCNQ1 mutations affecting arginine residues and resulting in Romano-Ward (RW) and the Jervell and Lange-Nielsen (JLN) congenital long QT syndromes.
  9. pmc 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
    Alena Stancakova
    Department of Medicine, University of Kuopio and Kuopio University Hospital, Kuopio, Finland
    Diabetes 58:2129-36. 2009
    ..We investigated the effects of 18 confirmed type 2 diabetes risk single nucleotide polymorphisms (SNPs) on insulin sensitivity, insulin secretion, and conversion of proinsulin to insulin...
  10. ncbi Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population
    Laetitia Gouas
    INSERM U582, Institut de Myologie, IFR 14, UPMC, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Eur J Hum Genet 13:1213-22. 2005
    ..Neither allele nor haplotype frequencies of the 10 KCNQ1 SNPs showed a significant difference between the two groups...
  11. doi Kv7.1 surface expression is regulated by epithelial cell polarization
    Martin N Andersen
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, The Faculty of Health Sciences, University of Copenhagen, Denmark
    Am J Physiol Cell Physiol 300:C814-24. 2011
    ..1 is expressed in epithelial tissues where it plays a role in salt and water transport. Mutations in the kcnq1 gene can lead to long QT syndrome and deafness, and several mutations have been described as trafficking mutations...
  12. doi AMP-activated protein kinase downregulates Kv7.1 cell surface expression
    Martin N Andersen
    The Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, The Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, Copenhagen, Denmark
    Traffic 13:143-56. 2012
    ..In summary, 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...
  13. pmc Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population
    Zagaa Odgerel
    National Institute of Neurological Disorders and Stroke Infectious Diseases and Immunogenetics Section, National Institutes of Health, Bethesda, MD, USA
    J Diabetes 4:238-42. 2012
    ..In the present study, we evaluated a hypothesis that a North Asian population living in a geographic area with unusually harsh environmental conditions would develop unique genetic risks...
  14. pmc 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
    Ahmad S Amin
    Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Eur Heart J 33:714-23. 2012
    Heterozygous mutations in KCNQ1 cause type 1 long QT syndrome (LQT1), a disease characterized by prolonged heart rate-corrected QT interval (QTc) and life-threatening arrhythmias...
  15. doi Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel
    Stephen C Harmer
    William Harvey Heart Centre, Barts and the London School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK
    Biochem J 443:635-42. 2012
    The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome type 1) and result in a complete loss of I(Ks) channel function...
  16. doi LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1
    David Peroz
    INSERM, UMR915, Nantes, France
    J Biol Chem 284:5250-6. 2009
    Mutations in the potassium channel KCNQ1 that determine retention of the mutated proteins in the endoplasmic reticulum (ER) are associated with the autosomal dominant negative Romano-Ward LQT1 cardiac syndrome...
  17. pmc KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel
    N Tinel
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS UPR 411, 660 route des Lucioles, Sophia Antipolis, 06560 Valbonne, France
    EMBO J 19:6326-30. 2000
    Mutations in HERG and KCNQ1 (or KVLQT1) genes cause the life-threatening Long QT syndrome...
  18. pmc KCNQ1 gene polymorphisms are associated with lipid parameters in a Chinese Han population
    Zhong Chen
    Department of Cardiology, the Affiliated ZhongDa Hospital and Institute of Cardiovascular Disease of Southeast University, Nanjing 210009, PR China
    Cardiovasc Diabetol 9:35. 2010
    Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ1 are reported to be associated with type 2 diabetes mellitus (T2DM), possibly caused by a reduction in insulin secretion and higher ..
  19. ncbi Transcriptional activation by stimulating protein 1 and post-transcriptional repression by muscle-specific microRNAs of IKs-encoding genes and potential implications in regional heterogeneity of their expressions
    Xiaobin Luo
    Research Center, Montreal Heart Institute, Montreal, Canada
    J Cell Physiol 212:358-67. 2007
    In cardiac cells, KCNQ1 assembles with KCNE1 and forms a channel complex constituting the slow delayed rectifier current I(Ks). Expression of KCNQ1 and KCNE1 are regionally heterogeneous and changes with pathological states of the heart...
  20. pmc Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels
    Lioara Restier
    Nora Eccles Harrison Cardiovascular Research and Training Institute and Department of Physiology, University of Utah, Salt Lake City, UT 84112, USA
    J Physiol 586:4179-91. 2008
    ..I(Ks) channels are formed by coassembly of pore-forming KCNQ1 alpha-subunits and ancillary KCNE1 beta-subunits...
  21. ncbi Molecular basis of the long-QT syndrome associated with deafness
    I Splawski
    Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112, USA
    N Engl J Med 336:1562-7. 1997
  22. ncbi Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome
    F Y Shalaby
    Department of Cardiovascular Drug Discovery, Bristol Myers Squibb Pharmaceutical Research Institute, Princeton, NJ 08543 4000, USA
    Circulation 96:1733-6. 1997
    Mutations that map to the KvLQT1 gene on human chromosome 11 account for more than 50% of inherited long QT syndrome (LQTS)...
  23. ncbi A constitutively open potassium channel formed by KCNQ1 and KCNE3
    B C Schroeder
    Zentrum fur Molekulare Neurobiologie Hamburg, Hamburg University, Germany
    Nature 403:196-9. 2000
    Mutations in all four known KCNQ potassium channel alpha-subunit genes lead to human diseases. KCNQ1 (KvLQT1) interacts with the beta-subunit KCNE1 (IsK, minK) to form the slow, depolarization-activated potassium current I(Ks) that is ..
  24. ncbi Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome
    Michael J Ackerman
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
    Mayo Clin Proc 78:1479-87. 2003
    ..To determine the spectrum, frequency, and ethnic-specificity of channel variants in the potassium channel genes implicated in congenital long QT syndrome (LQTS) among healthy subjects...
  25. ncbi Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study
    Arne Pfeufer
    Institute of Human Genetics, Technical University Munich, Munich, Germany
    Circ Res 96:693-701. 2005
    ..Using a two-step design we analyzed 174 SNPs from the KCNQ1, KCNH2, KCNE1, and KCNE2 genes in 689 individuals from the population-based KORA study and 14 SNPs with results ..
  26. ncbi Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome
    Joerg Zehelein
    Universitatsklinikum Heidelberg, Innere Medizin III, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany
    J Biol Chem 281:35397-403. 2006
    ..the long QT syndrome linked with a profound hearing loss caused by mutations affecting both alleles of either the KCNQ1 or the KCNE1 gene...
  27. pmc The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes
    Gianina Panaghie
    Greenberg Division of Cardiology, Department of Medicine, Cornell University, Weill Medical College, New York, NY 10021, USA
    J Gen Physiol 129:121-33. 2007
    ..MinK slows the activation of channels formed with KCNQ1 alpha subunits to generate the voltage-dependent I(Ks) channel in human heart; MiRP1 and MiRP2 remove the voltage ..
  28. ncbi The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification
    Lia Crotti
    Section of Cardiology, Department of Lung, Blood and Heart, University of Pavia, Pavia, Italy
    Circulation 116:2366-75. 2007
    ..In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity...
  29. doi Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
    Carey Anne Eddy
    Cardiac Inherited Diseases Group CIDG, Auckland City Hospital Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 5:1275-81. 2008
    ..Large gene deletions and duplications can be missed with these methodologies...
  30. pmc Common variants at ten loci modulate the QT interval duration in the QTSCD Study
    Arne Pfeufer
    Institute of Human Genetics, Helmholtz Center Munich, Germany
    Nat Genet 41:407-14. 2009
    ..Four loci map near the monogenic long-QT syndrome genes KCNQ1, KCNH2, SCN5A and KCNJ2...
  31. ncbi Mutations in the hminK gene cause long QT syndrome and suppress IKs function
    I Splawski
    Department of Human Genetics, University of Utah, Salt Lake City 84112, USA
    Nat Genet 17:338-40. 1997
    ..Recent physiological studies suggest that KCNE1 encodes beta-subunits (hminK) that co-assemble with KvLQT1 alpha-subunits to form the slowly activating delayed rectifier K+ (IKs) channel...
  32. ncbi Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome
    N Neyroud
    INSERM U153, Institut de Myologie, Hopital Pitie Salpetriere, Paris, France
    Circ Res 84:290-7. 1999
    The voltage-gated K+ channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear...
  33. ncbi Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits
    L Franqueza
    Department of Medicine, Division of Cardiology, University of Utah, Salt Lake City, Utah 84112, USA
    J Biol Chem 274:21063-70. 1999
    ..is an inherited disorder of cardiac repolarization caused by mutations in cardiac ion channel genes, including KVLQT1. In this study, the functional consequences of three long QT-associated missense mutations in KvLQT1 (R243C, W248R,..
  34. pmc A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly
    N Schmitt
    Institut fuer Neurale Signalverarbeitung, ZMNH, Martinistrasse 52, 20246 Hamburg, Germany
    EMBO J 19:332-40. 2000
    ..LQT patients suffer from syncopal episodes and high risk of sudden death. The KCNQ1 gene encodes KvLQT1 alpha-subunits, which together with auxiliary IsK (KCNE1, minK) subunits form IK(s) K(+) channels...
  35. ncbi Role of K(V)LQT1 in cyclic adenosine monophosphate-mediated Cl(-) secretion in human airway epithelia
    M Mall
    Universitäts Kinderklinik and Physiologisches Institut, Albert Ludwigs Universitat Freiburg, Freiburg, Germany
    Am J Respir Cell Mol Biol 23:283-9. 2000
    ..Cl(-) secretion was significantly inhibited by the chromanol 293B (10 micromol/liter), a specific inhibitor of K(V)LQT1 K(+) channels. Inhibition was increased after cAMP-dependent stimulation...
  36. ncbi Structural determinants of KvLQT1 control by the KCNE family of proteins
    Y F Melman
    Section of Molecular Cardiology, Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Biol Chem 276:6439-44. 2001
    b>KvLQT1 is a Shaker-like voltage-gated potassium channel that when complexed with minK (KCNE1) produces the slowly activating delayed rectifier I(ks)...
  37. ncbi Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel
    Steven O Marx
    Department of Pharmacology, Center for Molecular Cardiology, Department of Medicine, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
    Science 295:496-9. 2002
    ..Yotiao binds to hKCNQ1 by a leucine zipper motif, which is disrupted by an LQTS mutation (hKCNQ1-G589D). Identification of the hKCNQ1 macromolecular complex provides a mechanism for SNS modulation of cardiac APD through IKS...
  38. ncbi Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome
    Zhiqing Wang
    Department of Medicine Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 75:308-16. 2002
    ..Previously homozygous mutations in the potassium channel-encoding genes, KvLQT1 (alpha-subunit) and KCNE1 (beta-subunit), have been described in consanguineous families with JLNS...
  39. ncbi Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms
    Ling Ping Lai
    Institute of Pharmacology, National Taiwan University Hospital, Taipei, Taiwan
    J Hum Genet 50:490-6. 2005
    ..With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations)...
  40. ncbi Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population
    Paul A Brink
    Department of Internal Medicine, University of Stellenbosch, South Africa
    Circulation 112:2602-10. 2005
    ..We are investigating one such founder effect, originating in South Africa in approximately ad 1700 and segregating the same KCNQ1 mutation (A341V).
  41. pmc Interaction of KCNE subunits with the KCNQ1 K+ channel pore
    Gianina Panaghie
    Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, 520 East 70th Street, New York, NY 10021, USA
    J Physiol 570:455-67. 2006
    b>KCNQ1 alpha subunits form functionally distinct potassium channels by coassembling with KCNE ancillary subunits MinK and MiRP2. MinK-KCNQ1 channels generate the slowly activating, voltage-dependent cardiac IKs current...
  42. pmc Secondary structure of a KCNE cytoplasmic domain
    Jessica M Rocheleau
    Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    J Gen Physiol 128:721-9. 2006
    ..In KCNE1, this region is required for modulation of KCNQ1 K(+) channels to afford the slowly activating cardiac I(Ks) current...
  43. pmc Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
    Arthur J Moss
    Cardiology Division, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
    Circulation 115:2481-9. 2007
    Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I(Ks) cardiac potassium channel...
  44. pmc Kv7.1 (KCNQ1) properties and channelopathies
    David Peroz
    INSERM, U533, Nantes, F 44000, France
    J Physiol 586:1785-9. 2008
    b>KCNQ1 is the pore-forming subunit of a channel complex whose expression and function have been rather well characterized in the heart...
  45. pmc KCNQ1 and KCNE1 in the IKs channel complex make state-dependent contacts in their extracellular domains
    Xulin Xu
    Department of Physiology and Biophysics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298, USA
    J Gen Physiol 131:589-603. 2008
    b>KCNQ1 and KCNE1 (Q1 and E1) associate to form the slow delayed rectifier I(Ks) channels in the heart...
  46. doi Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model
    Hajime Nishio
    Department of Legal Medicine, Osaka Medical College, Takatsuki, Osaka, Japan
    Int J Legal Med 123:253-7. 2009
    We performed mutation analysis for genes implicated in long QT syndrome (KCNQ1, KCNH2, and SCN5A) in 17 sudden unexplained death autopsy cases...
  47. pmc Functional interactions between KCNE1 C-terminus and the KCNQ1 channel
    Jerri Chen
    Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY, USA
    PLoS ONE 4:e5143. 2009
    The KCNE1 gene product (minK protein) associates with the cardiac KvLQT1 potassium channel (encoded by KCNQ1) to create the cardiac slowly activating delayed rectifier, I(Ks)...
  48. pmc Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China
    Y Liu
    Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Graduate School of the Chinese Academy of Sciences, 294 Taiyuan Road, Shanghai, People s Republic of China
    Diabetologia 52:1315-21. 2009
    ..association studies have identified several novel type 2 diabetes susceptibility variants in intron 15 of the KCNQ1 gene...
  49. pmc A variant in the KCNQ1 gene predicts future type 2 diabetes and mediates impaired insulin secretion
    Anna Jonsson
    Department of Clinical Sciences, Diabetes and Endocrinology, Lund University, and Lund University Diabetes Centre, Malmo, Sweden
    Diabetes 58:2409-13. 2009
    ..association studies for type 2 diabetes in Japanese subjects have recently identified common variants in the KCNQ1 gene that are strongly associated with type 2 diabetes...
  50. pmc Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation
    Saumya Das
    Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Heart Rhythm 6:1146-53. 2009
    ..Mutations in several ion channel genes have been reported to cause rare cases of familial atrial fibrillation (AF)...
  51. pmc A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese
    Fuu Jen Tsai
    School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan
    PLoS Genet 6:e1000847. 2010
    ..06x10(-9); OR = 1.28; 95% CI = 1.18-1.39). We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest signal at rs2237895 (P = 9.65x10(-10); OR = 1.29, 95% CI = 1...
  52. pmc Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits
    Renjian Zheng
    Department of Medicine, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Biochem J 428:75-84. 2010
    Ion channel subunits encoded by KCNQ1 and KCNE1 produce the slowly activating K+ current (IKs) that plays a central role in myocardial repolarization...
  53. pmc Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population
    Xueyao Han
    Department of Endocrinology and Metabolism, Peking University People s Hospital, Peking University Diabetes Center, no 11, XiZhiMen South Street, Beijing, China
    BMC Med Genet 11:81. 2010
    ..genetic loci for type 2 diabetes (T2D); among these genes, CDKAL1, IGF2BP2, SLC30A8, CDKN2A/B, HHEX, FTO, TCF2, KCNQ1, and WFS1 are the most important...
  54. pmc KCNQ1 channels voltage dependence through a voltage-dependent binding of the S4-S5 linker to the pore domain
    Frank S Choveau
    INSERM, U915, Nantes F 44000, France
    J Biol Chem 286:707-16. 2011
    ..remains: how do voltage sensors (S4) regulate pore gating? Previous mutagenesis data obtained on the Kv channel KCNQ1 highlighted the critical role of specific residues in both the S4-S5 linker (S4S5(L)) and S6 C terminus (S6(T))...
  55. doi Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?
    Kathryn S Rice
    Green Lane Paediatric and Congenital Cardiac Services, Starship Children s Hospital, Auckland, New Zealand
    Heart Rhythm 8:551-4. 2011
    The potassium channel I(Ks), which is encoded by the KCNQ1 gene, is expressed in organ systems including the inner ear, kidneys, lungs, intestine, and stomach in addition to the heart...
  56. pmc KCNQ1 haplotypes associate with type 2 diabetes in Malaysian Chinese Subjects
    Riyadh Saif-Ali
    Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia E Mails Z A H L C S
    Int J Mol Sci 12:5705-18. 2011
    ..nucleotide polymorphisms (SNPs) and haplotypes of potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) with type 2 diabetes (T2D) in Malaysian Chinese subjects...
  57. ncbi KCNQ1 variants associate with type 2 diabetes in Malaysian Malay subjects
    Riyadh Saif-Ali
    Department of Molecular Medicine, Faculty of Medicine, University Malaya, Malaysia
    Ann Acad Med Singapore 40:488-92. 2011
    Type 2 diabetes (T2D) candidate gene: potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) was suggested by conducting a genome wide association study (GWAS) in Japanese population...
  58. pmc Allosteric gating mechanism underlies the flexible gating of KCNQ1 potassium channels
    Jeremiah D Osteen
    Department of Pharmacology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 109:7103-8. 2012
    b>KCNQ1 (Kv7.1) is a unique member of the superfamily of voltage-gated K(+) channels in that it displays a remarkable range of gating behaviors tuned by coassembly with different β subunits of the KCNE family of proteins...
  59. pmc The association between KCNQ1 gene polymorphism and type 2 diabetes risk: a meta-analysis
    Qiman Sun
    Liver Cancer Institute, Zhongshan Hospital, Fudan University, Shanghai, People s Republic of China
    PLoS ONE 7:e48578. 2012
    ..channel KQT-like sub-family, member 1) encodes a pore-forming subunit of a voltage-gated K(+) channel (KvLQT1) that plays a key role for the repolarization of the cardiac action potential as well as water and salt transport ..
  60. pmc Strong parent-of-origin effects in the association of KCNQ1 variants with type 2 diabetes in American Indians
    Robert L Hanson
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Phoenix, Arizona, USA
    Diabetes 62:2984-91. 2013
    ..genetic variants associated with type 2 diabetes, including those in KLF14 (rs4731702), MOB2 (rs2334499), and KCNQ1 (rs2237892, rs231362)...
  61. pmc Genetic variation in KCNQ1 associates with fasting glucose and beta-cell function: a study of 3,734 subjects comprising three ethnicities living in Singapore
    Jonathan T Tan
    Department of Endocrinology, Singapore General Hospital, Singapore
    Diabetes 58:1445-9. 2009
    The potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) has been found through a genome-wide association study to be a strong candidate for conferring susceptibility to type 2 diabetes in East Asian and European ..
  62. doi Contribution of long-QT syndrome genetic variants in sudden infant death syndrome
    Gilles Millat
    Laboratoire de Cardiogénétique Moléculaire, Centre de biologie et pathologie est, Hospices Civils de Lyon, Lyon, Bron Cedex, France
    Pediatr Cardiol 30:502-9. 2009
    ..After a standardized autopsy protocol, a blinded molecular screening of the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was performed on each case...
  63. pmc The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin release following an oral glucose load
    Johan Holmkvist
    Hagedorn Research Institute, Gentofte, Denmark
    PLoS ONE 4:e5872. 2009
    Polymorphisms in the potassium channel, voltage-gated, KQT-like subfamily, member 1 (KCNQ1) have recently been reported to associate with type 2 diabetes...
  64. pmc Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis
    Li Juan Ma
    Institut für Neurale Signalverarbeitung, Zentrum für Molekulare Neurobiologie, Universitat Hamburg, Hamburg, Germany
    Biophys J 100:885-94. 2011
    ..Here, we describe the peculiarities of the KCNQ1 gating process in parallel comparison to Shaker...
  65. pmc 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
    E J Parra
    Department of Anthropology, University of Toronto at Mississauga, 3359 Mississauga Road North, Mississauga, ON, Canada, L5L 1C6
    Diabetologia 54:2038-46. 2011
    ..The top signals observed in this meta-analysis were followed up in the Diabetes Genetics Replication and Meta-analysis Consortium (DIAGRAM) and DIAGRAM+ datasets...
  66. pmc IKs channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits
    Katarina J Ruscic
    Department of Biochemistry, Brandeis University, Waltham, MA 02454, USA
    Proc Natl Acad Sci U S A 110:E559-66. 2013
    ..I(Ks) channels are composed of KCNQ1 (Q1) pore-forming subunits that carry S4 voltage-sensor segments and KCNE1 (E1) accessory subunits...
  67. ncbi Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    Q Wang
    Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA
    Nat Genet 12:17-23. 1996
    ..Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia...
  68. ncbi Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel
    M C Sanguinetti
    Department of Medicine, Cardiology Division, University of Utah, Salt Lake City 84112, USA
    Nature 384:80-3. 1996
    ..We have previously used positional cloning techniques to define a new putative K+-channel gene, KVLQT1. Mutations in this gene cause long-QT syndrome, an inherited disorder that increases the risk of sudden death from ..
  69. ncbi A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    N Neyroud
    INSERM UR153, Groupe Hospitalier Pitié Salpérrière, Institut de Myologie, Paris, France
    Nat Genet 15:186-9. 1997
    ..Recombinants allowed us to map the JLN gene between D11S922 and D11S4146, to a 6-cM interval where KVLQT1, a potassium channel gene causing Romano-Ward (RW) syndrome, the dominant form of long QT syndrome, has been ..
  70. ncbi Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome
    T Tanaka
    Laboratory of Molecular Medicine, University of Tokyo, Japan
    Circulation 95:565-7. 1997
    ..Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far. We investigated mutations of these genes in LQTS families.
  71. pmc Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias
    C Chouabe
    Institut de Pharmacologie Moleculaire et Cellulaire, CNRS, 660 route des Lucioles, Sophia Antipolis, 06560 Valbonne, France
    EMBO J 16:5472-9. 1997
    Mutations in the delayed rectifier K+ channel subunit KvLQT1 have been identified as responsible for both Romano-Ward (RW) and Jervell and Lange-Nielsen (JLN) inherited long QT syndromes...
  72. ncbi Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome
    L Bianchi
    The Rammelkamp Center for Education and Research, MetroHealth Campus, Case Western Reserve University, 2500 MetroHealth Drive, Cleveland, OH 44109 1998, USA
    Hum Mol Genet 8:1499-507. 1999
    ..Mutations in the minK gene KCNE1 have been linked to the LQT5 variant of human long QT syndrome. MinK assembles with KvLQT1 to produce the slow delayed rectifier K+ current IKs and may assemble with HERG to modulate the rapid delayed ..
  73. ncbi Jervell and Lange-Nielsen syndrome: a Norwegian perspective
    L Tranebjaerg
    Department of Medical Genetics, University Hospital, Tromsø, Norway
    Am J Med Genet 89:137-46. 1999
    ..Nowhere is the prevalence so high as in Norway, where we estimate a prevalence of at least 1:200,000. The KCNQ1 and KCNE1 proteins coassemble in a potassium channel, and mutations in either the KCNQ1 gene or the KCNE1 gene ..
  74. ncbi Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    I Splawski
    Department of Human Genetics, Howard Hughes Medical Institute, Division of Cardiology, Salt Lake City, Utah, USA
    Circulation 102:1178-85. 2000
    ..Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2...
  75. ncbi Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias
    P J Schwartz
    Department of Cardiology, Policlinico S Matteo IRCCS and University of Pavia, Pavia, Italy
    Circulation 103:89-95. 2001
    ..Preliminary observations suggested that the conditions ("triggers") associated with cardiac events may in large part be gene specific...
  76. ncbi Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes
    Ping Yang
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tenn 37232, USA
    Circulation 105:1943-8. 2002
    ..We have previously identified functionally important DNA variants in genes encoding K+ channel ancillary subunits in 11% of an aLQTS cohort...
  77. pmc Modulation of homomeric and heteromeric KCNQ1 channels by external acidification
    Asher Peretz
    Department of Physiology and Pharmacology, Sackler Medical School, Tel Aviv University, Tel Aviv 69978, Israel
    J Physiol 545:751-66. 2002
    ..It consists of an assembly of two structurally distinct alpha and beta subunits called KCNQ1 and KCNE1, respectively...
  78. ncbi KCNQ1 gain-of-function mutation in familial atrial fibrillation
    Yi Han Chen
    Department of Cardiology, Tongji Hospital, and Institute of Medical Genetics, Tongji University, 399 Xin Cun Road, Shanghai 200065, People s Republic of China
    Science 299:251-4. 2003
    ..We studied a family with hereditary persistent AF and identified the causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome 11p15.5...
  79. ncbi Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome
    Wojciech Zareba
    Cardiology Unit of the Department of Medicine, Heart Research Follow Up Program, Box 653, University of Rochester Medical Center, Rochester, NY 14642, USA
    J Cardiovasc Electrophysiol 14:1149-53. 2003
    ..The aim of this study was to determine whether there is an association between the location of mutations in the KCNQ1 gene and cardiac events in LQT1 patients.
  80. ncbi [A novel KCNQ1 mutation in Chinese with congenital long QT syndrome]
    Lu Liang
    Capital Institute of Pediatrics, Beijing 100020, China
    Zhonghua Er Ke Za Zhi 41:724-7. 2003
    ..One of these genes, KCNQ1, encodes an alpha-subunit of cardiac slowly activated delayed rectifier potassium channel...
  81. ncbi Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients
    Aimee D C Paulussen
    Department of Pharmacogenomics, Johnson and Johnson Pharmaceutical Research and Development, Turnhoutseweg 30, Beerse, Belgium
    J Mol Med (Berl) 82:182-8. 2004
    ..Five cLQTS genes ( KCNH2, KCNQ1, SCN5A, KCNE1, KCNE2) were thoroughly screened for genetic variations in 32 drug-induced aLQTS patients with ..
  82. ncbi Compound mutations: a common cause of severe long-QT syndrome
    Peter Westenskow
    Department of Physiology, University of Utah, 95 South 2000 East, Salt Lake City, UT 84112 5000, USA
    Circulation 109:1834-41. 2004
    ..Although most LQTS individuals do not have cardiac events, significant phenotypic variability exists within families. Probands can be very symptomatic. The mechanism of this phenotypic variability is not understood...
  83. ncbi Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
    Chloe Bellocq
    Laboratoire de Physiopathologie et de Pharmacologie Cellulaires et Moléculaires, INSERM U533, Hotel Dieu, Nantes, France
    Circulation 109:2394-7. 2004
    ..The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genetically heterogeneous and can also be caused by mutation in the KCNQ1 gene.
  84. ncbi KCNQ1/KCNE1 channels during germ-cell differentiation in the rat: expression associated with testis pathologies
    Irini Tsevi
    Molecular Physiology Laboratory, Departament de Bioquimica i Biologia Molecular, Universitat de Barcelona, Barcelona, Spain
    J Cell Physiol 202:400-10. 2005
    b>KCNQ1/KCNE1 channels are responsible for the Jervell-Lange-Nielsen cardiac syndrome, which is also characterized by congenital deafness. KCNQ1/KCNE1 is crucial for K+ transport in the inner ear...
  85. ncbi hKCNE4 inhibits the hKCNQ1 potassium current without affecting the activation kinetics
    Morten Grunnet
    Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Biochem Biophys Res Commun 328:1146-53. 2005
    All five members of the KCNE beta-subunit family are capable of modulating the KCNQ1 potassium current. We have previously published that the murine variant of KCNE4 inhibits the human KCNQ1 current [J. Physiol. 542 (2002) 119]...
  86. ncbi Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    David J Tester
    Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 2:507-17. 2005
    ..The purpose of this study was to determine the spectrum and prevalence of cardiac channel mutations among a large cohort of consecutive, unrelated patients referred for long QT syndrome (LQTS) genetic testing...
  87. pmc Subunit interaction determines IKs participation in cardiac repolarization and repolarization reserve
    Jonathan Silva
    Cardiac Bioelectricity and Arrhythmia Center, Washington University, St Louis, MO 63130 4899, USA
    Circulation 112:1384-91. 2005
    ..The role of IKs, the slow delayed rectifier K+ current, in cardiac ventricular repolarization has been a subject of debate...
  88. ncbi Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice
    Carlo Napolitano
    Molecular Cardiology, IRCCS Fondazione S Maugeri Foundation, Pavia, Italy
    JAMA 294:2975-80. 2005
    ..In long QT syndrome (LQTS), disease severity and response to therapy vary according to the genetic loci. There exists a critical need to devise strategies to expedite genetic analysis...
  89. ncbi The long QT syndrome family of cardiac ion channelopathies: a HuGE review
    Stephen M Modell
    Department of Health Management and Policy, University of Michigan School of Public Health, University of Michigan Medical System, Ann Arbor, MI 48109 2029, USA
    Genet Med 8:143-55. 2006
    ..The "family" concept of syndromes has been applied to the multiple LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation and slowed ventricular repolarization...
  90. ncbi Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations
    Liora Shamgar
    Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Circ Res 98:1055-63. 2006
    ..IKS K+ channel plays a major role in repolarizing the cardiac action potential and consists of the assembly of KCNQ1 and KCNE1 subunits...
  91. ncbi The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population
    Zhiyu Zeng
    Center for Arrhythmia Diagnosis and Treatment, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Cardiology 108:97-103. 2007
    ..We investigated the association between AF and the single nucleotide polymorphisms (SNPs) of genes KCNQ1, KCNE1 and KCNE4 associated with this channel...
  92. ncbi Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
    Marianne Arnestad
    Institute of Forensic Medicine, University of Oslo, Oslo, Norway
    Circulation 115:361-7. 2007
    ..Given the importance and potential implications of these observations, we performed a study to more accurately quantify the contribution to SIDS of LQTS gene mutations and rare variants...
  93. pmc KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel
    Koichi Nakajo
    Division of Biophysics and Neurobiology, Department of Molecular Physiology, National Institute for Physiological Sciences, Okazaki, Aichi, 444 8585, Japan
    J Gen Physiol 130:269-81. 2007
    b>KCNQ1 is a voltage-dependent K(+) channel whose gating properties are dramatically altered by association with auxiliary KCNE proteins...
  94. ncbi KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval
    Alicia Lundby
    Danish National Research Foundation Centre for Cardiac Arrhythmia, Department of Biomedical Sciences, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Heart Rhythm 4:1532-41. 2007
    Atrial fibrillation (AF) and long QT syndrome (LQTS) are cardiac arrhythmia disorders that have been related to dysfunction of the voltage-gated potassium channel subunit Kv7.1 encoded by the KCNQ1 gene.
  95. pmc KCNE peptides differently affect voltage sensor equilibrium and equilibration rates in KCNQ1 K+ channels
    Jessica M Rocheleau
    Department of Biochemistry and Molecular Pharmacology, University of Massachusetts, Worcester, MA 01605, USA
    J Gen Physiol 131:59-68. 2008
    b>KCNQ1 voltage-gated K(+) channels assemble with the family of KCNE type I transmembrane peptides to afford membrane-embedded complexes with diverse channel gating properties...
  96. pmc Mutation of an A-kinase-anchoring protein causes long-QT syndrome
    Lei Chen
    Department of Pharmacology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 104:20990-5. 2007
    ..receptor (betaAR) activation, requires assembly of AKAP9 (Yotiao) with the I(Ks) potassium channel alpha subunit (KCNQ1)...
  97. doi Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia
    Yu Zhang
    Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
    Ann Noninvasive Electrocardiol 13:180-90. 2008
    ..We hypothesized that specific single nucleotide polymorphisms in cardiac ion channels were associated with cardiac rhythm disturbance in the Chinese population...
  98. doi A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact
    Laura Arbour
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Genet Med 10:545-50. 2008
    ..Hereditary long QT syndrome is named for a prolonged QT interval reflecting predisposition to ventricular arrhythmias and sudden death. A high rate in a remote, northern Canadian First Nations community was brought to attention...
  99. pmc Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel
    Congbao Kang
    Department of Biochemitry, Vanderbilt University, Nashville, Tennessee 37232, USA
    Biochemistry 47:7999-8006. 2008
    KCNE1 is a single-span membrane protein that modulates the voltage-gated potassium channel KCNQ1 (K V7...
  100. doi Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
    K E Berge
    Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet Radiumhospitalet Medical Centre, Oslo, Norway
    Scand J Clin Lab Invest 68:362-8. 2008
    Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome...
  101. doi An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome
    Zahurul A Bhuiyan
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    Prog Biophys Mol Biol 98:319-27. 2008
    ..JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes. Both disorders could cause Long QT syndrome either without deafness (RWs), or with deafness (JLNs)...

Research Grants65

  1. Factors that Initiate Arrhythamias in Long QT Syndrome
    Guy Salama; Fiscal Year: 2006
    ..of cardiac function by autonomic activity, the effects of intra-cardiac reflex responses and their role in LQT-related arrhythmias...
  2. Carlos G Vanoye; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): The human KCNQ1 voltage-gated potassium channel is modulated by interactions with an accessory subunit, KCNE1, a process that is essential for healthy cardiac and auditory function...
  3. High Throughput Screening for Chemical Modifiers of Long QT Syndrome
    David J Milan; Fiscal Year: 2013
    ..Because LQT patients are often young at presentation they bear the risk and morbidity of multiple ICD generator changes and ..
  4. Development of Chemical Probes for KCNQ Potassium Channels
    Min Li; Fiscal Year: 2009
    ..The KCNQ (or Kv7) channel family includes five members: KCNQ1 to KCNQ5...
  5. Excitability mechanisms of neurocardiac regulation
    ALBERT E GLASSCOCK; Fiscal Year: 2012
    ..potassium channel knockout mouse model, which exhibits cardiac defects despite minimal cardiac expression;and 2) a Kcnq1 potassium channel missense mutation mouse model, which exhibits cardiac defects associated with co-expression in ..
  6. Heart and Muscle K+ Channels: Assembly and Regulation
    Gideon Koren; Fiscal Year: 2013
    ..SCD through the application of innovative technology and the novel use of new genetic models of long QT syndrome 1 (LQT1)...
  7. ALBERT E GLASSCOCK; Fiscal Year: 2015
    ..potassium channel knockout mouse model, which exhibits cardiac defects despite minimal cardiac expression;and 2) a Kcnq1 potassium channel missense mutation mouse model, which exhibits cardiac defects associated with co-expression in ..
  8. Sanda Despa; Fiscal Year: 2015
    ..when it was found that AnkB loss- of-function mutations generate human long QT syndrome type 4 (LQT4), the only LQT produced by alterations in a protein other than an ion channel...
  9. The role of dynamic changes in repolarization and calcium transients in Long QT r
    Bum Rak Choi; Fiscal Year: 2013
    ..We propose to use novel transgenic rabbit models of long QT syndrome (LQT1 and LQT2) created by Dr...
  10. Sex Differences in Molecular Heterogeneity of Cardiac Repolarization
    Glenna C L Bett; Fiscal Year: 2012
    ..The alpha subunits of IKr and IKs are HERG and KCNQ1 respectively...
  11. Gary A Lorigan; Fiscal Year: 2016
    ..of the membrane-bound KCNE1 protein;(2) elucidate the binding mechanism of KCNE1 with the C-terminal domain of the KCNQ1 K+ channel;(3) identify structural/binding differences in disease-causing long QT syndrome (LQTS) E1 and Q1 ..
  12. Carmen W Dessauer; Fiscal Year: 2016
    ..Mutations that disrupt interactons between the IKs channel subunit (KCNQ1) and the scaffolding protein Yotiao give rise to Long-QT syndrome...
  13. Gideon Koren; Fiscal Year: 2016
    ..of innovative technology, computer modeling and the use of new genetic models of long QT syndrome type 1and type 2 (LQT1 and LQT2)...
  14. Delayed Rectifier K Channel Biogenesis is Unveiled in Models of Long QT Syndrome
    Brian P Delisle; Fiscal Year: 2012
    ..Most congenital LQT syndrome patients have mutations in either the KCNQ1 or KCNH2 (human ether a-go-go- related) genes, which encode the voltage-gated K+ channel 1-subunits Kv7.1 and Kv11...
  15. Structure-function Analysis of KCNE Interactions with Cardiac Channels KCNQ1 &HE
    Thomas V McDonald; Fiscal Year: 2013
    ..Our preliminary studies indicate that C-termini of KCNEs and KCNQ1 channels physically and functionally interact to alter channel deactivation rates and voltage-dependence of ..
  16. Gail A Robertson; Fiscal Year: 2014
    ..The long-term goals of this work are to uncover determinants of inherited and acquired long QT syndrome (LQT), and to make advances that will ultimately allow more drugs to be developed while protecting those at risk from ..
  17. Neural Circulatory Control in the Long QT Syndrome
    Virend Somers; Fiscal Year: 2006
    ..are explained by mutations in cardiac ion channel genes, the commonest known mutations being classified as LQT1, LQT2, and LQT3. The degree of QT prolongation is an independent risk factor for cardiac events...
  18. MULTI-ANALYTE WAVEGUIDE IMMUNOSENSING
    JAMES HERRON; Fiscal Year: 2002
    ..LQTS has been linked to genetic polymorphisms in four genes (KVLQT1,HERG, SCN5A & KCNE1) that encode for cardiac ion channels...
  19. TUMOR SUPPRESSORS AND IMPRINTING AT CHROMOSOME 11P155
    Michael Higgins; Fiscal Year: 2000
    ..Three BWS rearrangement breakpoints and a rhabdoid tumor breakpoint have been shown to disrupt the Long QT (KVLQT1) gene...
  20. LONG QT SYNDROME:EMOTIONAL TRIGGERS OF CARDIAC EVENTS
    Richard Lane; Fiscal Year: 2005
    ..In Study #2, 200 LQTS patients (100 LQT1 and 100 LQT2; each group balanced for gender) will be studied for three consecutive days during which momentary ..
  21. Ca Handling & Arrhythmias Associated with LQT Syndrome
    KENNETH LAURITA; Fiscal Year: 2005
    ..The long term objectives of this study are to determine the mechanistic relationship between abnormal intracellular calcium handling and arrhythmias associated with LQTS (i.e. TdP). ..
  22. TARGETING HERG: A MOUSE MODEL OF THE LONG QT SYNDROME
    Barry London; Fiscal Year: 2002
    ..HERG subunits interact in-vitro with IsK (minK), a K+ channel beta-subunit that coassembles with KvLQT1 to form the cardiac current IKs. It is not known whether HERG mutations affect currents other than IKr...
  23. Molecular Mechanisms of Cardiac Arrhythmias
    Qing Wang; Fiscal Year: 2005
    ..We focus on two arrhythmic disorders: long-QT syndrome (LQT) and idiopathic ventricular fibrillation (IVF), both of which cause sudden death in the young, otherwise healthy, ..
  24. LONG QT SYNDROME - A GENETIC APPROACH
    Mark Keating; Fiscal Year: 1991
    The long QT syndrome (LQT) is a dominantly inherited disorder chacterized by delayed cardiac repolarization, recurrent ventricular tachycardia, syncope and sudden death...
  25. COURTNEY MICHELLE CAMPBELL; Fiscal Year: 2015
    ..will investigate the cellular consequences of a slow delayed rectifier current (IKs) gain-of-function mutation in KCNQ1 (S140G) linked with familial AF and to explore how the genetic risk is modified by oxidative stress, a common and ..
  26. Mechanism and functional role of AKAP79/150 in M current control and excitability
    Mark S Shapiro; Fiscal Year: 2010
    ..In this project, we will study which KCNQ1-5 subunits are targets of AKAP79/150, and which Gq/11-coupled receptors of sympathetic and nodose ganglia neurons (..
  27. Study of Ventricular Repolarization in Long QT Syndrome
    Wojciech Zareba; Fiscal Year: 2004
    ..clinical manifestation between LQT1 and LQT2 types caused by mutations of two different potassium channel genes (KVLQT1 and HERG, respectively)...
  28. Modifiers of Potassium Channel Function and Expression
    GAIL ROBERTSON; Fiscal Year: 2005
    ..Of the HIPs, Tara alone interacts with another cardiac ion channel protein, KvLQT1, in binary yeast two-hybrid assays, but none interacts with Shaker...
  29. William R Kobertz; Fiscal Year: 2016
    ..This proposal investigates KCNQ1-KCNE K+ channel complexes that enable potassium ingress into the endolymph, maintain salt and water homeostasis in ..
  30. ANASTASIOS TZINGOUNIS; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): The KCNQ channel family includes five genes, known as Kcnq1-5...
  31. INTERCELLULAR COMMUNICATION AND IMPULSE PROPAGATION
    JOSE S JALIFE; Fiscal Year: 2010
    ..1 (KCNJ2) and the delayed rectifier HERG (KCHN2) and KyLQT1 (KCNQ1)/mink (KCNE1) modify the ability of cardiac electrical waves to propagate through non-homogeneous cardiac muscle ..
  32. Geoffrey W Abbott; Fiscal Year: 2015
    ..5 (IK,slow1). We also defined a new role for KCNE1, as an endocytic chaperone of the KCNQ1 a subunit, and found that both KCNE1 and KCNE2 can influence the a subunit composition of functional Kv channels...
  33. Coeli M B Lopes; Fiscal Year: 2016
    ..expression via KCNE1(S102) phosphorylation in cardiomyocytes leading to APD prolongation, 2) develop KCNE1 and KCNQ1 based peptides that specifically inhibit IKs internalization, 3) determine the contribution of cPKC mediated IKs ..
  34. Markov Models of Potassium Channel Gating
    Randall L Rasmusson; Fiscal Year: 2012
    ..4, Kv4.3, KvLQT1 and HERG gating based on known and hypothesized structure-function relationships and voltage clamp data...
  35. Investigating the role of CaBP1 in KCNQ4 channel modulation
    KEITH ERIC BRYAN; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The voltage-gated KCNQ1-5 (Kv7.1-7...
  36. Leslie S Satin; Fiscal Year: 2016
    ..whether the dual oscillator accounts for the oscillatory properties of normal human islets or a mouse lacking KCNQ1, a putative beta cell potassium channel linked to T2DM;Aim 4)...
  37. William R Kobertz; Fiscal Year: 2014
    ..and calmodulin bound to peptides, we will generate quaternary structures of the differently calcified KCNQ4- and KCNQ1/KCNE1-calmodulin complexes...
  38. MOLECULAR DETERMINANTS OF POTASSIUM CHANNEL DRUG BLOCK
    Dirk Snyders; Fiscal Year: 2003
    ..5, kv4.2, herg, kvlqt1)...
  39. Gender-Differences in Cardiac Repolarization/Arrhythmias
    Guy Salama; Fiscal Year: 2005
    ..Female rabbits have longer APDs and QT intervals than males and a greater vulnerability to LQT-related arrhythmias...
  40. Isabelle Deschenes; Fiscal Year: 2014
    ..In fact, similar to channelopathies such as Long QT (LQT) or Brugada Syndrome (BrS) which are autosomal dominant diseases, these more common arrhythmias also display ..
  41. MOLECULAR BASIS FOR Kv CHANNEL HETEROGENEITY IN THE HEART
    Gea Ny Tseng; Fiscal Year: 2010
    ..The IKs channel consists of at least two components: KCNQ1 channel and KCNE1 auxiliary subunit...
  42. KCNQ Channels and Vasoconstrictor Signal Transduction
    Kenneth L Byron; Fiscal Year: 2013
    ....
  43. Gea Ny Tseng; Fiscal Year: 2015
    ..The focus of this proposal is the slow delayed rectifier (IKs) channel. IKs has 2 major components: pore-forming KCNQ1 channel and auxiliary KCNE1 subunits...
  44. Steve A N Goldstein; Fiscal Year: 2015
    ..The three aims focus on operation of two important channels formed by the same pore-forming Kv subunit (Kv7.1 = KCNQ1 = Q1) and two different MiRPs (MinK = E1 and MiRP2 = E3). The study addresses questions at the core of physiology...
  45. REGULATION OF HEPATIC INSULIN EXTRACTION
    Kenneth S Polonsky; Fiscal Year: 2013
    ..We propose to study the T2DM-associated genes KCNJ11, TCF7L2, KCNQ1, CDKAL1, IGF2BP2 and SLC30A8 since it appears that diabetes-associated variants in these genes increase T2DM risk ..
  46. Jason L Poulos; Fiscal Year: 2014
    ....
  47. Imprinted genes as risk and early detection markers for breast cancer
    Karin B Michels; Fiscal Year: 2010
    ..human genome, and all its imprinted genes govern placental and fetal growth (PHLDA2, SLC22A18, CDKN1C, KCNQ1DN, KCNQ1, IGF2 and H19)...
  48. Human Tryptophanyl-tRNA Synthetase-A Functional Analysis
    Jerry Johnson; Fiscal Year: 2006
    ..The tryptophan specific enzyme (WRS) from mammals is unique in that it is also an autophosphorylating protein kinase...
  49. The Genetic Basis of Atrial Fibrillation
    Dawood Darbar; Fiscal Year: 2009
    ..that AF can be a heritable disorder with loci mapped to chromosomes 10 and 6 and an AF-causing mutation in KCNQ1 gene. The candidate has identified multiple extended families with familial AF...
  50. SCOR IN SUDDEN CARDIAC DEATH
    Robert Lux; Fiscal Year: 2004
    ..He will identify new mutations underlying the hereditary long QT syndrome (LQT) and idiopathic ventricular fibrillation (IVF), both of which are caused by ion channel dysfunction during ..
  51. LKS AND LKUR IN GRANULOSA CELLS
    Lisa Freeman; Fiscal Year: 2003
    ..slow delayed rectifier K+ current, and those of the slow K+ currents associated with co-expression of min-K and KvLQT1, the channel proteins that associate to form functional Ks channels; 2) Compare the properties of granulosa cell ..
  52. MOLECULAR MECHANISMS OF HERG POTASSIUM CHANNEL FUNCTION
    Peter Spector; Fiscal Year: 2001
    ..Block of IKr by certain medications causes long QT syndrome (LQT). The human IKr channel is encoded by the gene HERG, mutations in which are associated with inherited LQT...
  53. Nine mega-pixel digital mammography display workstation
    Jasjit Suri; Fiscal Year: 2003
    ..The main components of the RWS include the main computer, the graphics adapter cars, the software drivers for the graphics cards, and the main ..
  54. MinK-related peptides(MiRPs): structure and function
    Steve Goldstein; Fiscal Year: 2004
    ..In the heart and ear, Mink assembles with KCNQ1 to form Iks channels...
  55. MEMBRANE CURRENTS IN CARDIAC MUSCLE
    Arthur Brown; Fiscal Year: 2003
    ..currents and may be useful as a chaperone to rescue misprocessed mutants; and 4) study the interactions between KvLQT1 and minK during processing using misprocessed mutants linked to hereditary long QT syndrome (hLQTS) as probes...
  56. NEURAL MECHANISMS OF VENTRICULAR ELECTRICAL REMODELING
    Philip Adamson; Fiscal Year: 2003
    ..One, well defined, is LQT1, the variant of the long QT syndrome with mutations affecting the Iks current...
  57. CARDIAC POTASSIUM CHANNEL SUBUNITS AND SUDDEN DEATH
    Martin Tristani Firouzi; Fiscal Year: 2002
    ..Mutations in the gene KVLQT1 cause the most common form of inherited LQT...
  58. Analysis of Imprinting Control of H19/Igf2 and Kcnq1
    Nora Engel; Fiscal Year: 2009
    ..will test whether transcription of Kcnq1ot, an imprinted antisense non-coding RNA produced from exon 10 of Kcnq1, is required to maintain the imprinting at this locus by inserting a polyadenylation site in the Kcnq1ot1 gene...
  59. Inherited Ion Channel Defects in Arrhythmias
    AUGUSTUS GRANT; Fiscal Year: 2005
    ..The functional effects of many LQT mutations are not well understood from their heterologous expression...
  60. LONG QT SYNDROME--GENETIC STUDIES
    Arthur Moss; Fiscal Year: 2002
    ..the four known ion channels accounting for 50 percent of LQTS; 3) screen probands and family members for known LQT gene mutations to expand the number of identified carriers and; 4) to explore for modifier-gene loci in families ..
  61. THERAPUTIC TRIAL IN PATIENTS WITH LQTS 3 GENE MUTATION
    Arthur Moss; Fiscal Year: 2002
    ..The significance of this work relates to the future use of molecular therapeutics to treat ion-channel disorders associated with congenital and acquired cardiac repolarization disorders. ..
  62. THROMBOGENIC FACTORS AND RECURRENT CORONARY EVENTS
    Arthur Moss; Fiscal Year: 2003
    ..abstract_text> ..
  63. CYTOSOLIC REGULATION OF INNER EAR ION TRANSPORT
    A PHILINE WANGEMANN; Fiscal Year: 2007
    ..in stria vascularis Under Specific Aim 2, we will detelmine the subunit composition of the potassium channels KCNQ1 in strial marginal cells, KCNQ4 in outer hair cells and KCNJ10 in strial intermediate cells These potassium ..
  64. K+ channel protein complexes in auditory biology
    WILLIAM KOBERTZ; Fiscal Year: 2009
    ..The KCNQ1-KCNE1 K+ channel complex is the exclusive mechanism for endolymphatic K+ secretion into the cochlear duct...
  65. Barany Society XXII Regular Meeting, Seattle, WA USA
    GEORGE GATES; Fiscal Year: 2002
    ..e., hair cell regeneration vs. development of a vestibular prosthesis. Younger scientists will have the opportunity to present their own work in either the platform or poster session. ..