Temat: "KCNQ1" - OpacWWW - Prolib Integro

Skocz do pozycji: 1.

Tytuł:: KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.
Autorzy:: González-Garrido A; Laboratorio de Enfermedades Mendelianas, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
López-Ramírez O; Instituto de Oftalmología Fundación de Asistencia Privada Conde de la Valenciana, I.A.P., Mexico City 06800, Mexico.
Cerda-Mireles A; Laboratorio de Enfermedades Mendelianas, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Navarrete-Miranda T; Laboratorio de Enfermedades Mendelianas, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Flores-Arenas AI; Laboratorio de Enfermedades Mendelianas, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Rojo-Domínguez A; Departamento de Ciencias Naturales, Universidad Autónoma Metropolitana, Unidad Cuajimalpa, Mexico City 05348, Mexico.
Arregui L; Departamento de Ciencias Naturales, Universidad Autónoma Metropolitana, Unidad Cuajimalpa, Mexico City 05348, Mexico.
Iturralde P; Departamento de Electrofisiología, Instituto Nacional de Cardiología 'Ignacio Chávez', Mexico City 14080, Mexico.
Antúnez-Argüelles E; Instituto de Genética, Universidad del Mar, Campus Puerto Escondido, Oaxaca 70985, Mexico.
Domínguez-Pérez M; Laboratorio de Genómica de Enfermedades Cardiovasculares, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Jacobo-Albavera L; Laboratorio de Genómica de Enfermedades Cardiovasculares, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Carnevale A; Laboratorio de Enfermedades Mendelianas, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Villarreal-Molina T; Laboratorio de Genómica de Enfermedades Cardiovasculares, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 12; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 12.
Typ publikacji:: Journal Article
MeSH Terms:: Arrhythmias, Cardiac*/genetics
Channelopathies*
KCNQ1 Potassium Channel*/genetics
Humans ; Alleles ; Cyclic AMP-Dependent Protein Kinases ; HEK293 Cells ; Phenotype

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Skocz do pozycji: 2.

Tytuł:: Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K Current, I Ks .
Autorzy:: Verkerk AO; Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Department of Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Wilders R; Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Apr 14; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 14.
Typ publikacji:: Journal Article
MeSH Terms:: Sinoatrial Node*/metabolism
KCNQ1 Potassium Channel*/genetics
KCNQ1 Potassium Channel*/metabolism
Animals ; Humans ; Colforsin/pharmacology ; HEK293 Cells ; Adrenergic Agents ; Action Potentials/physiology

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Skocz do pozycji: 3.

Tytuł:: Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Autorzy:: Sieliwonczyk E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium. .; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium. .
Alaerts M; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Simons E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Snyders D; Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Nijak A; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Vandendriessche B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Schepers D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Akdeniz D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Van Craenenbroeck E; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Cardiovascular Research, GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Knaepen K; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Rabaut L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Heidbuchel H; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Cardiovascular Research, GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Saenen J; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Cardiovascular Research, GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Labro AJ; Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
Loeys B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jan 31; Vol. 18 (1), pp. 23. Date of Electronic Publication: 2023 Jan 31.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: KCNQ1 Potassium Channel*/genetics
Long QT Syndrome*/genetics
Animals ; Cricetinae ; Alleles ; Belgium ; Cricetulus ; Humans ; Jervell-Lange Nielsen Syndrome/genetics

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Skocz do pozycji: 4.

Tytuł:: Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome.
Autorzy:: Karlova M; Faculty of Biology, Lomonosov Moscow State University, 119234 Moscow, Russia.
Abramochkin DV; Faculty of Biology, Lomonosov Moscow State University, 119234 Moscow, Russia.
Pustovit KB; Faculty of Biology, Lomonosov Moscow State University, 119234 Moscow, Russia.
Nesterova T; Institute of Immunology and Physiology, Ural Branch of Russian Academy of Sciences, 620049 Ekaterinburg, Russia.; Institute of Natural Sciences and Mathematics, Ural Federal University, 620075 Ekaterinburg, Russia.
Novoseletsky V; Faculty of Biology, Lomonosov Moscow State University, 119234 Moscow, Russia.; Biology Department, Shenzhen MSU-BIT University, Shenzhen 517182, China.
Loussouarn G; Nantes Université, CNRS, INSERM, l'institut du Thorax, F-44000 Nantes, France.
Zaklyazminskaya E; Petrovsky National Research Center of Surgery, 119991 Moscow, Russia.
Sokolova OS; Faculty of Biology, Lomonosov Moscow State University, 119234 Moscow, Russia.; Biology Department, Shenzhen MSU-BIT University, Shenzhen 517182, China.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Jul 19; Vol. 23 (14). Date of Electronic Publication: 2022 Jul 19.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: KCNQ1 Potassium Channel*/genetics
KCNQ1 Potassium Channel*/metabolism
Long QT Syndrome*/genetics
Aged ; Child, Preschool ; Heterozygote ; Humans ; Male ; Mutation ; Point Mutation

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Skocz do pozycji: 5.

Tytuł:: KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.
Autorzy:: Song Y; Department of Cardiology, Peking University Third Hospital, 49 Huayuan North Road, Haidian District, Beijing, 100191, China.
Guo T; Beijing Lab for Cardiovascular Precision Medicine, Anzhen Hospital, Capital Medical University, Beijing, 100029, China.
Jiang Y; Department of Cardiology, The Second Affiliated Hospital of Zhengzhou University, Jingba Road, Zhengzhou, 450053, China.
Zhu M; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.
Wang H; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.
Lu W; Shenzhen Key Laboratory of Cardiovascular Disease, Fuwai Hospital Chinese Academy of Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, 518057, China.
Jiang M; Department of Cell Biology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China.
Qi M; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.
Lan F; Shenzhen Key Laboratory of Cardiovascular Disease, Fuwai Hospital Chinese Academy of Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, 518057, China. .
Cui M; Department of Cardiology, Peking University Third Hospital, 49 Huayuan North Road, Haidian District, Beijing, 100191, China. .; Pokaż więcej
Źródło:: Stem cell research & therapy [Stem Cell Res Ther] 2022 Jun 28; Vol. 13 (1), pp. 287. Date of Electronic Publication: 2022 Jun 28.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Human Embryonic Stem Cells*/metabolism
Human Embryonic Stem Cells*/pathology
KCNQ1 Potassium Channel*/deficiency
KCNQ1 Potassium Channel*/genetics
KCNQ1 Potassium Channel*/metabolism
Long QT Syndrome*/genetics
Long QT Syndrome*/metabolism
Long QT Syndrome*/pathology
Cell Line ; Humans ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology

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Skocz do pozycji: 6.

Tytuł:: CCIVR facilitates comprehensive identification of cis-natural antisense transcripts with their structural characteristics and expression profiles.
Autorzy:: Ohhata T; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan. .
Suzuki M; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
Sakai S; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
Ota K; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
Yokota H; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
Uchida C; Advanced Research Facilities & Services, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
Niida H; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
Kitagawa M; Department of Molecular Biology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Sep 15; Vol. 12 (1), pp. 15525. Date of Electronic Publication: 2022 Sep 15.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: KCNQ1 Potassium Channel*/genetics
RNA, Antisense*/genetics
RNA, Antisense*/metabolism
Promoter Regions, Genetic ; Transforming Growth Factor beta/metabolism

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Skocz do pozycji: 7.

Tytuł:: Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca Sensitivity of the Channel.
Autorzy:: Bauer CK; Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Horn D; Department of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin and Berlin Institute of Health, 13353 Berlin, Germany.
Laço MN; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, 3004-561 Coimbra, Portugal.
Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 5422031, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt.
Omar OM; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 5422031, Egypt.
Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Aug 26; Vol. 23 (17). Date of Electronic Publication: 2022 Aug 26.
Typ publikacji:: Journal Article
MeSH Terms:: KCNQ1 Potassium Channel*/genetics
Potassium Channels, Voltage-Gated*/genetics
Calmodulin/genetics ; Gain of Function Mutation ; Patch-Clamp Techniques

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Skocz do pozycji: 8.

Tytuł:: Mutation-Specific Differences in Kv7.1 ( KCNQ1 ) and Kv11.1 ( KCNH2 ) Channel Dysfunction and Long QT Syndrome Phenotypes.
Autorzy:: Kekenes-Huskey PM; Department of Cell and Molecular Physiology, Stritch School of Medicine, Loyola University Chicago, Maywood, IL 60153, USA.
Burgess DE; Department of Physiology, College of Medicine, University of Kentucky, Lexington, KY 40536, USA.
Sun B; Department of Pharmacology, Harbin Medical University, Harbin 150081, China.
Bartos DC; Agios Pharmaceuticals, Cambridge, MA 02139, USA.
Rozmus ER; Department of Physiology, College of Medicine, University of Kentucky, Lexington, KY 40536, USA.
Anderson CL; Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI 53705, USA.
January CT; Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI 53705, USA.
Eckhardt LL; Cellular and Molecular Arrythmias Program, Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, Madison, WI 53705, USA.
Delisle BP; Department of Physiology, College of Medicine, University of Kentucky, Lexington, KY 40536, USA.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Jul 02; Vol. 23 (13). Date of Electronic Publication: 2022 Jul 02.
Typ publikacji:: Journal Article; Review
MeSH Terms:: KCNQ1 Potassium Channel*/genetics
Romano-Ward Syndrome*/genetics
ERG1 Potassium Channel/genetics ; Electrocardiography ; Humans ; Mutation ; Phenotype

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Skocz do pozycji: 9.

Tytuł:: Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels K v 7.1 and K v 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.
Autorzy:: Lubberding AF; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Juhl CR; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Skovhøj EZ; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kanters JK; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Mandrup-Poulsen T; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Torekov SS; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Pokaż więcej
Źródło:: Acta physiologica (Oxford, England) [Acta Physiol (Oxf)] 2022 Mar; Vol. 234 (3), pp. e13781. Date of Electronic Publication: 2022 Jan 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Diabetes Mellitus, Type 2*/genetics
ERG1 Potassium Channel*/genetics
Hyperinsulinism*/genetics
Hypoglycemia*/genetics
Insulin-Secreting Cells*/metabolism
KCNQ1 Potassium Channel*/genetics
KCNQ1 Potassium Channel*/metabolism
Long QT Syndrome*/genetics
Long QT Syndrome*/metabolism
Genome-Wide Association Study ; Humans ; Mutation

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Skocz do pozycji: 10.

Tytuł:: KCNQ1 and lymphovascular invasion are key features in a prognostic classifier for stage II and III colon cancer.
Autorzy:: Uil SH; Department of Surgery, Spaarne Gasthuis, Boerhaavelaan 22, 2035 RC, Haarlem, The Netherlands.
Coupé VMH; Department of Epidemiology and Data Science, Amsterdam University Medical Center, de Boelelaan 1089a, 1081 HV, Amsterdam, The Netherlands.
Bril H; Department of Pathology, Spaarne Gasthuis, Boerhaavelaan 22, 2035 RC, Haarlem, The Netherlands.
Meijer GA; Department of Pathology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.
Fijneman RJA; Department of Pathology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands. .
Stockmann HBAC; Department of Surgery, Spaarne Gasthuis, Boerhaavelaan 22, 2035 RC, Haarlem, The Netherlands.; Pokaż więcej
Źródło:: BMC cancer [BMC Cancer] 2022 Apr 08; Vol. 22 (1), pp. 372. Date of Electronic Publication: 2022 Apr 08.
Typ publikacji:: Journal Article
MeSH Terms:: Colonic Neoplasms*/pathology
KCNQ1 Potassium Channel*/metabolism
Disease-Free Survival ; Humans ; Neoplasm Invasiveness/pathology ; Neoplasm Staging ; Prognosis ; Retrospective Studies

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Skocz do pozycji: 11.

Tytuł:: shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
Autorzy:: Cócera-Ortega L; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Wilders R; Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Kamps SC; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Fabrizi B; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Huber I; The Sohnis Family Laboratory for Cardiac Electrophysiology and Regenerative Medicine, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa 3109601, Israel.
van der Made I; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
van den Bout A; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
de Vries DK; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Gepstein L; The Sohnis Family Laboratory for Cardiac Electrophysiology and Regenerative Medicine, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa 3109601, Israel.
Verkerk AO; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Pinto YM; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Tijsen AJ; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Apr 06; Vol. 23 (7). Date of Electronic Publication: 2022 Apr 06.
Typ publikacji:: Journal Article
MeSH Terms:: KCNQ1 Potassium Channel*/genetics
KCNQ1 Potassium Channel*/metabolism
Romano-Ward Syndrome*/genetics
Adult ; Alleles ; Humans ; RNA, Small Interfering ; Severity of Illness Index

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Skocz do pozycji: 12.

Tytuł:: Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Autorzy:: Phul S; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
Kuenze G; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Institute for Drug Discovery, Leipzig University, Leipzig, Germany.
Vanoye CG; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
Sanders CR; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Biochemistry, Vanderbilt University, Nashville, Tennessee, United States of America.
George AL Jr; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
Meiler J; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Institute for Drug Discovery, Leipzig University, Leipzig, Germany.; Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, United States of America.; Pokaż więcej
Źródło:: PLoS computational biology [PLoS Comput Biol] 2022 Apr 20; Vol. 18 (4), pp. e1010038. Date of Electronic Publication: 2022 Apr 20 (Print Publication: 2022).
Typ publikacji:: Journal Article
MeSH Terms:: Artificial Intelligence*
KCNQ1 Potassium Channel*/genetics
Neural Networks, Computer*
Algorithms ; Humans

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Skocz do pozycji: 13.

Tytuł:: Sexual dimorphism in prostacyclin-mimetic responses within rat mesenteric arteries: A novel role for K V 7.1 in shaping IP receptor-mediated relaxation.
Autorzy:: Baldwin SN; Molecular and Clinical Sciences Research Institute, St. George's University, London, UK.
Forrester EA; Molecular and Clinical Sciences Research Institute, St. George's University, London, UK.
McEwan L; Molecular and Clinical Sciences Research Institute, St. George's University, London, UK.
Greenwood IA; Molecular and Clinical Sciences Research Institute, St. George's University, London, UK.; Pokaż więcej
Źródło:: British journal of pharmacology [Br J Pharmacol] 2022 Apr; Vol. 179 (7), pp. 1338-1352. Date of Electronic Publication: 2022 Jan 21.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Epoprostenol*/analogs & derivatives
Epoprostenol*/pharmacology
KCNQ1 Potassium Channel*/pharmacology
Sex Characteristics*
Animals ; Female ; Iloprost/pharmacology ; Inositol 1,4,5-Trisphosphate Receptors/physiology ; Male ; Mesenteric Arteries/metabolism ; Rats ; Rats, Wistar ; Receptors, Epoprostenol ; Receptors, Prostaglandin/agonists

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Skocz do pozycji: 14.

Tytuł:: Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
Autorzy:: Agudelo WA; Fundación Instituto de Inmunología de Colombia (FIDIC), Bogotá 111221, Colombia.
Gil-Quiñones SR; Laboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá 111221, Colombia.
Fonseca A; Laboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá 111221, Colombia.
Arenas A; Department of Pediatric Electrophysiology, Congenital Heart Institute, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá 111221, Colombia.
Castro L; Department of Pediatric Electrophysiology, Congenital Heart Institute, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá 111221, Colombia.
Sierra-Díaz DC; Center for Research in Genetics and Genomics (CIGGUR), GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia.
Patarroyo MA; Fundación Instituto de Inmunología de Colombia (FIDIC), Bogotá 111221, Colombia.; Health Sciences Division, Main Campus, Universidad Santo Tomás, Bogotá 111221, Colombia.; Microbiology Department, Faculty of Medicine, Universidad Nacional de Colombia, Bogotá 111221, Colombia.
Laissue P; Center for Research in Genetics and Genomics (CIGGUR), GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia.; Orphan Diseases Unit, Biopas Laboratories, BIOPAS Group, Bogotá 111221, Colombia.
Suárez CF; Fundación Instituto de Inmunología de Colombia (FIDIC), Bogotá 111221, Colombia.
Cabrera R; Laboratorio de Biología Molecular y Pruebas Diagnósticas de Alta Complejidad, Fundación Cardioinfantil-Instituto de Cardiología, Bogotá 111221, Colombia.; Center for Research in Genetics and Genomics (CIGGUR), GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 28; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 28.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Molecular Dynamics Simulation*
Channelopathies/*genetics
ERG1 Potassium Channel/*metabolism
KCNQ1 Potassium Channel/*metabolism
Long QT Syndrome/*genetics
Child ; Child, Preschool ; ERG1 Potassium Channel/genetics ; Humans ; KCNQ1 Potassium Channel/genetics ; Male

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Skocz do pozycji: 15.

Tytuł:: Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Autorzy:: Braun C; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Rochester, NY, 14642, USA.
Parks XX; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Rochester, NY, 14642, USA.
Qudsi H; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Rochester, NY, 14642, USA.
Lopes CMB; Aab Cardiovascular Research Institute, Department of Medicine, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Rochester, NY, 14642, USA. coeli_.; Pokaż więcej
Źródło:: Communications biology [Commun Biol] 2021 Dec 14; Vol. 4 (1), pp. 1392. Date of Electronic Publication: 2021 Dec 14.
Typ publikacji:: Journal Article
MeSH Terms:: Cell Membrane/*metabolism
KCNQ1 Potassium Channel/*genetics
Phosphatidylinositol Phosphates/*metabolism
Potassium Channels, Voltage-Gated/*genetics
Animals ; Female ; KCNQ1 Potassium Channel/metabolism ; Potassium Channels, Voltage-Gated/metabolism ; Rats ; Rats, Sprague-Dawley

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Skocz do pozycji: 16.

Tytuł:: Association of Combined TCF7L2 and KCNQ1 Gene Polymorphisms with Diabetic Micro- and Macrovascular Complications in Type 2 Diabetes Mellitus.
Autorzy:: Rattanatham R; Biomedical Sciences Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; Department of Medical Technology, School of Allied Health Sciences, Walailak University, Nakhon Si Thammarat, Thailand.
Settasatian N; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; School of Medical Technology, Faculty of Associated Medical Science, Khon Kaen University, Khon Kaen, Thailand.
Komanasin N; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; School of Medical Technology, Faculty of Associated Medical Science, Khon Kaen University, Khon Kaen, Thailand.
Kukongviriyapan U; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; Department of Physiology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
Sawanyawisuth K; Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
Intharaphet P; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; Queen Sirikit Heart Center of the Northeast, Khon Kaen University, Khon Kaen, Thailand.
Senthong V; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.; Queen Sirikit Heart Center of the Northeast, Khon Kaen University, Khon Kaen, Thailand.
Settasatian C; Cardiovascular Research Group, Khon Kaen University, Khon Kaen, Thailand.; Department of Pathology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.; Pokaż więcej
Źródło:: Diabetes & metabolism journal [Diabetes Metab J] 2021 Jul; Vol. 45 (4), pp. 578-593. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Diabetes Mellitus, Type 2*/complications
Diabetes Mellitus, Type 2*/genetics
KCNQ1 Potassium Channel*/genetics
Case-Control Studies ; Genetic Predisposition to Disease/genetics ; Humans ; Polymorphism, Single Nucleotide/genetics ; Transcription Factor 7-Like 2 Protein/genetics

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Skocz do pozycji: 17.

Tytuł:: Recent Progress in Genetics and Epigenetics Research on Diabetic Nephropathy in Malaysia.
Autorzy:: Abu Seman N; Endocrine and Metabolic Unit, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam, 40170 Shah Alam, Selangor Darul Ehsan, Malaysia.
Othman SH; Endocrine and Metabolic Unit, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Setia Alam, 40170 Shah Alam, Selangor Darul Ehsan, Malaysia.; Pokaż więcej
Źródło:: Journal of diabetes research [J Diabetes Res] 2023 May 05; Vol. 2023, pp. 9053580. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).
Typ publikacji:: Journal Article; Review
MeSH Terms:: Diabetic Nephropathies*/etiology
Diabetes Mellitus, Type 2*/complications
Diabetes Mellitus, Type 2*/genetics
Humans ; Malaysia ; Interleukin-8/genetics ; Case-Control Studies ; KCNQ1 Potassium Channel/genetics ; Genetic Predisposition to Disease ; Epigenesis, Genetic ; Polymorphism, Single Nucleotide ; Solute Carrier Family 12, Member 3/genetics

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Skocz do pozycji: 18.

Tytuł:: A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.
Autorzy:: Wu X; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Perez ME; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Noskov SY; Centre for Molecular Simulation, Department of Biological Sciences, University of Calgary, Calgary, AB, Canada.
Larsson HP; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, FL, USA. .; Pokaż więcej
Źródło:: Communications biology [Commun Biol] 2021 Jul 20; Vol. 4 (1), pp. 887. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Ion Channel Gating*
KCNQ1 Potassium Channel/*genetics
Myocytes, Cardiac/*metabolism
Potassium Channels, Voltage-Gated/*genetics
KCNQ1 Potassium Channel/metabolism ; Potassium Channels, Voltage-Gated/metabolism

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Skocz do pozycji: 19.

Tytuł:: Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.
Autorzy:: Wu X; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Larsson HP; Department of Physiology and Biophysics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2020 Dec 11; Vol. 21 (24). Date of Electronic Publication: 2020 Dec 11.
Typ publikacji:: Journal Article; Review
MeSH Terms:: KCNQ1 Potassium Channel/*metabolism
Potassium Channels, Voltage-Gated/*metabolism
Animals ; Arrhythmias, Cardiac/metabolism ; Humans ; KCNQ1 Potassium Channel/genetics ; Long QT Syndrome/metabolism ; Potassium Channels, Voltage-Gated/genetics

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Skocz do pozycji: 20.

Tytuł:: Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
Autorzy:: Rinné S; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
Oertli A; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
Nagel C; Institute of Biomedical Engineering, Karlsruhe Institute of Technology (KIT), 76131 Karlsruhe, Germany.
Tomsits P; Department of Medicine I, University Hospital, LMU Munich, 80802 Munich, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Munich, 80636 Munich, Germany.; Member of the European Reference Network for Rare, Low Prevalance and Complex Diseases of the Heart (ERN GUARD-Heart), 81377 Munich, Germany.; Institute of Surgical Research at the Walter-Brendel-Centre of Experimental Medicine, University Hospital, LMU Munich, Marchioninistrasse 27, 81377 Munich, Germany.
Jenewein T; Institute of Legal Medicine, Goethe University, University Hospital Frankfurt, 60590 Frankfurt, Germany.; Institute for Transfusion Medicine and Immunohematology, German Red Cross Blood Service Baden-Württemberg-Hessen, Goethe University Frankfurt, 60528 Frankfurt, Germany.
Kääb S; Department of Medicine I, University Hospital, LMU Munich, 80802 Munich, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Munich, 80636 Munich, Germany.; Member of the European Reference Network for Rare, Low Prevalance and Complex Diseases of the Heart (ERN GUARD-Heart), 81377 Munich, Germany.
Kauferstein S; Institute of Legal Medicine, Goethe University, University Hospital Frankfurt, 60590 Frankfurt, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Frankfurt, 60596 Frankfurt, Germany.
Loewe A; Institute of Biomedical Engineering, Karlsruhe Institute of Technology (KIT), 76131 Karlsruhe, Germany.
Beckmann BM; Department of Medicine I, University Hospital, LMU Munich, 80802 Munich, Germany.; Institute of Legal Medicine, Goethe University, University Hospital Frankfurt, 60590 Frankfurt, Germany.
Decher N; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 10; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 10.
Typ publikacji:: Journal Article
MeSH Terms:: Romano-Ward Syndrome*/genetics
Jervell-Lange Nielsen Syndrome*/genetics
Humans ; KCNQ1 Potassium Channel/genetics ; Phenotype ; Electrocardiography ; Mutation ; KCNQ Potassium Channels/genetics

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