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1. Full Text Imprinting along the Kcnq1 domain on mouse chromosome 7 involves repressive histone methylation and recruitment of Polycomb group complexes
by Umlauf, David and Zhang, Yi and Wagschal, Alexandre and Cerqueira, Frédérique and Goto, Yuji and Feil, Robert and Cao, Ru
Nature genetics, ISSN 1061-4036, 12/2004, Volume 36, Issue 12, pp. 1296 - 1300
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Transcription. Transcription factor. Splicing. Rna processing | Molecular genetics | Biological and medical sciences | Chromatin. Chromosome | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | KCNQ1 Potassium Channel | Mice - genetics | Gene Expression | Immunoprecipitation | Chromosomes, Mammalian - genetics | Repressor Proteins - genetics | Polycomb-Group Proteins | Reverse Transcriptase Polymerase Chain Reaction | KCNQ Potassium Channels | Genomic Imprinting - genetics | Polymorphism, Single-Stranded Conformational | Animals | Histones - genetics | Placenta | Epigenesis, Genetic - genetics | Models, Biological | Female | Histones - metabolism | Methylation | Chromatin - genetics | Crosses, Genetic | Potassium Channels, Voltage-Gated - genetics | Physiological aspects | Genetic aspects | Research | Index Medicus | Life Sciences
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2. Full Text KCNQ1 rescues TMC1 plasma membrane expression but not mechanosensitive channel activity
by Harkcom, William T and Papanikolaou, Maria and Kanda, Vikram and Crump, Shawn M and Abbott, Geoffrey W
Journal of cellular physiology, ISSN 0021-9541, 08/2019, Volume 234, Issue 8, pp. 13361 - 13369
Kv7.1 | potassium channel | transmembrane channel‐like protein isoform 1 (TMC1) | transmembrane channel-like protein isoform 1 (TMC1) | Physiology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | KCNQ1 Potassium Channel - genetics | Cricetulus | Humans | KCNQ1 Potassium Channel - metabolism | Mechanotransduction, Cellular - physiology | Potassium Channels, Voltage-Gated - metabolism | KCNQ1 Potassium Channel - chemistry | Female | Cell Membrane - metabolism | Membrane Proteins - metabolism | Mechanotransduction, Cellular - genetics | CHO Cells | Potassium Channels, Voltage-Gated - genetics | Recombinant Proteins - metabolism | Chlorocebus aethiops | Mutagenesis, Site-Directed | Potassium Channels, Voltage-Gated - chemistry | Membrane Proteins - genetics | Oocytes - metabolism | Xenopus laevis | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Amino Acid Motifs | Patch-Clamp Techniques | Animals | Membrane Potentials | Membrane Proteins - chemistry | Hair Cells, Auditory, Inner - metabolism | Mice | COS Cells | Deafness | Potassium channels | Hair | Structural members | Channel gating | Hair cells | Cell surface | Inner ear | Proteins | Endocytosis | Cell lines | KCNQ1 protein | Potassium channels (voltage-gated) | Degeneration | Mechanical stimuli | Mutation | Endoplasmic reticulum | Potassium currents | Pore formation | Index Medicus
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3. Full Text Molecular pharmacology and therapeutic potential of neuronal Kv7-modulating drugs
by Miceli, Francesco and Soldovieri, Maria Virginia and Martire, Maria and Taglialatela, Maurizio
Current opinion in pharmacology, ISSN 1471-4892, 2007, Volume 8, Issue 1, pp. 65 - 74
Internal Medicine | Medical Education | Life Sciences & Biomedicine | Pharmacology & Pharmacy | Science & Technology | KCNQ1 Potassium Channel - genetics | Phenylenediamines - therapeutic use | Humans | KCNQ1 Potassium Channel - physiology | KCNQ3 Potassium Channel - drug effects | KCNQ1 Potassium Channel - drug effects | KCNQ2 Potassium Channel - drug effects | KCNQ3 Potassium Channel - genetics | KCNQ3 Potassium Channel - physiology | Hearing Loss - drug therapy | Hearing Loss - genetics | Epilepsy, Benign Neonatal - drug therapy | KCNQ Potassium Channels - drug effects | Animals | Aminopyridines - therapeutic use | Aminopyridines - pharmacology | KCNQ2 Potassium Channel - genetics | Phenylenediamines - pharmacology | KCNQ Potassium Channels - physiology | KCNQ2 Potassium Channel - physiology | Carbamates - therapeutic use | Binding Sites | Carbamates - pharmacology | KCNQ Potassium Channels - genetics | Neurosciences | Neurons | Epilepsy | Pharmacology | Seizures (Medicine) | Health aspects | Calmodulin | Index Medicus
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4. Full Text Disease characterization using LQTS-specific induced pluripotent stem cells
by Egashira, Toru and Yuasa, Shinsuke and Suzuki, Tomoyuki and Aizawa, Yoshiyasu and Yamakawa, Hiroyuki and Matsuhashi, Tomohiro and Ohno, Yohei and Tohyama, Shugo and Okata, Shinichiro and Seki, Tomohisa and Kuroda, Yusuke and Yae, Kojiro and Hashimoto, Hisayuki and Tanaka, Tomofumi and Hattori, Fumiyuki and Sato, Toshiaki and Miyoshi, Shunichiro and Takatsuki, Seiji and Murata, Mitsushige and Kurokawa, Junko and Furukawa, Tetsushi and Makita, Naomasa and Aiba, Takeshi and Shimizu, Wataru and Horie, Minoru and Kamiya, Kaichiro and Kodama, Itsuo and Ogawa, Satoshi and Fukuda, Keiichi
Cardiovascular research, ISSN 0008-6363, 09/2012, Volume 95, Issue 4, pp. 419 - 429
Long QT syndrome | Cardiomyocytes | Personalized medicine | Drug examination | iPS cells | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Medical sciences | Cardiac dysrhythmias | KCNQ1 Potassium Channel - genetics | Intermediate-Conductance Calcium-Activated Potassium Channels - genetics | Coculture Techniques | Humans | KCNQ1 Potassium Channel - metabolism | Romano-Ward Syndrome - pathology | Male | Intermediate-Conductance Calcium-Activated Potassium Channels - metabolism | Cellular Reprogramming | Teratoma - metabolism | Action Potentials | Embryoid Bodies - metabolism | Transfection | Potassium Channels, Voltage-Gated - metabolism | Time Factors | Gene Expression Regulation, Developmental | HEK293 Cells | Intermediate-Conductance Calcium-Activated Potassium Channels - antagonists & inhibitors | KCNQ1 Potassium Channel - antagonists & inhibitors | Cell Differentiation | Romano-Ward Syndrome - genetics | Potassium Channel Blockers - pharmacology | Induced Pluripotent Stem Cells - metabolism | Potassium Channels, Voltage-Gated - genetics | Induced Pluripotent Stem Cells - pathology | Genetic Predisposition to Disease | Induced Pluripotent Stem Cells - drug effects | Romano-Ward Syndrome - diagnosis | Induced Pluripotent Stem Cells - transplantation | Embryoid Bodies - pathology | Potassium Channels, Voltage-Gated - antagonists & inhibitors | Myocytes, Cardiac - pathology | Myocytes, Cardiac - transplantation | Patch-Clamp Techniques | Phenotype | Teratoma - pathology | Animals | Myocytes, Cardiac - drug effects | Adolescent | Fluorescent Antibody Technique | Romano-Ward Syndrome - metabolism | Myocytes, Cardiac - metabolism | Mice | Index Medicus
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5. Full Text Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention
by Goldman, Alica M and Behr, Elijah R and Semsarian, Christopher and Bagnall, Richard D and Sisodiya, Sanjay and Cooper, Paul N
Epilepsia (Copenhagen), ISSN 0013-9580, 01/2016, Volume 57, Issue S1, pp. 17 - 25
Prevention | Sudden infant death syndrome | Molecular autopsy | Sudden unexpected death in epilepsy (SUDEP), genetics | Sudden cardiac death | Kv1.1 Potassium Channel - genetics | Genetic Predisposition to Disease | Death, Sudden - etiology | KCNQ1 Potassium Channel - genetics | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Infant | Death, Sudden, Cardiac - etiology | ERG1 Potassium Channel | Ether-A-Go-Go Potassium Channels - genetics | Potassium Channels - genetics | Epilepsy - genetics | NAV1.5 Voltage-Gated Sodium Channel - genetics | Sudden Infant Death - genetics | Death, Sudden - prevention & control | Arrhythmias, Cardiac - genetics | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | Epilepsy | Analysis | Genetics | Heart attacks | Defibrillators | Index Medicus | genetics | Sudden unexpected death in epilepsy (SUDEP)
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6. Full Text Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
by Kapplinger, Jamie D., BA and Tester, David J., BS and Salisbury, Benjamin A., PhD and Carr, Janet L., PhD and Harris-Kerr, Carole, PhD and Pollevick, Guido D., PhD and Wilde, Arthur A.M., MD, PhD and Ackerman, Michael J., MD, PhD
Heart rhythm, ISSN 1547-5271, 2009, Volume 6, Issue 9, pp. 1297 - 1303
Cardiovascular | Long QT syndrome | Sodium channels | Genetic testing | Potassium channels | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Genetic Testing | KCNQ1 Potassium Channel - genetics | Prevalence | United States | Humans | Middle Aged | Child, Preschool | Male | ERG1 Potassium Channel | Young Adult | Aged, 80 and over | Adult | Female | Retrospective Studies | Child | Infant, Newborn | NAV1.5 Voltage-Gated Sodium Channel | Potassium Channels, Voltage-Gated - genetics | Long QT Syndrome - epidemiology | Risk Factors | Ether-A-Go-Go Potassium Channels - genetics | Potassium Channels - genetics | Muscle Proteins - genetics | Adolescent | Long QT Syndrome - genetics | Aged | Sodium Channels - genetics | Mutation | Index Medicus
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7. Full Text Common variants at ten loci influence QT interval duration in the QTGEN Study
by Newton-Cheh, Christopher and Kors, Jan A and de Bakker, Paul I W and Witteman, Jacqueline C M and Estrada, Karol and Heckbert, Susan R and Uitterlinden, André G and Smith, Nicholas L and Eijgelsheim, Mark and Lumley, Thomas and Ch Stricker, Bruno H and O'Donnell, Christopher J and Rice, Kenneth M and Sotoodehnia, Nona and Larson, Martin G and Yin, Xiaoyan and Noseworthy, Peter A and Bis, Joshua C and Hofman, Albert and Marciante, Kristin and Rotter, Jerome I and Rivadeneira, Fernando and Psaty, Bruce M
Nature genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 399 - 406
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Meta-Analysis as Topic | Arrhythmias, Cardiac - chemically induced | KCNQ1 Potassium Channel - genetics | Humans | Risk Factors | Chromosome Mapping | Electroencephalography | ERG1 Potassium Channel | Ether-A-Go-Go Potassium Channels - genetics | Death, Sudden, Cardiac | Genetic Variation | Muscle Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Polymorphism, Single Nucleotide - genetics | Adult | Aged | Sodium Channels - genetics | Genome, Human | Arrhythmias, Cardiac - genetics | NAV1.5 Voltage-Gated Sodium Channel | Potassium Channels, Voltage-Gated - genetics | Complications and side effects | Genetic variation | Cardiac arrest | Long QT syndrome | Genetic aspects | Research | Risk factors | Studies | Confidence intervals | Cardiac arrhythmia | Technological change | Quality control | Data base management | Kidney diseases | Neurological disorders | Family physicians | Index Medicus
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8. Full Text The I-Ks Ion Channel Activator Mefenamic Acid Requires KCNE1 and Modulates Channel Gating in a Subunit-Dependent Manner
by Wang, Yundi and Eldstrom, Jodene and Fedida, David
Molecular pharmacology, ISSN 0026-895X, 02/2020, Volume 97, Issue 2, pp. 132 - 144
Life Sciences & Biomedicine | Pharmacology & Pharmacy | Science & Technology | Potassium - metabolism | KCNQ1 Potassium Channel - genetics | Anti-Arrhythmia Agents - pharmacology | Humans | KCNQ1 Potassium Channel - metabolism | Potassium Channels, Voltage-Gated - agonists | Arrhythmias, Cardiac - physiopathology | Dose-Response Relationship, Drug | Potassium Channels, Voltage-Gated - metabolism | Myocardium - metabolism | HEK293 Cells | KCNQ1 Potassium Channel - chemistry | Fibroblasts | Heart Rate - physiology | Potassium Channels, Voltage-Gated - genetics | Membrane Potentials - drug effects | Recombinant Proteins - metabolism | Mutagenesis, Site-Directed | Potassium Channels, Voltage-Gated - chemistry | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Anti-Arrhythmia Agents - therapeutic use | Arrhythmias, Cardiac - drug therapy | Mefenamic Acid - pharmacology | Patch-Clamp Techniques | Animals | Signal Transduction - drug effects | Mice | Mutation | Ion Channel Gating - drug effects | Index Medicus
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