المؤلفون: Beaumont, R.N., Fadista, J., Feenstra, B., Njølstad, P.R.

المصدر: Nature Genetics. 55(11):1807-1819

مصطلحات موضوعية: amino acid, antibody, potassium channel KCNQ1, adult, amino acid transport, Article, birth weight, controlled study, female, fetus, fetus growth, gene locus, genetic correlation, genome, genome-wide association study, genotype, gestational age, human, major clinical study, male, Mendelian randomization analysis, morphology, placenta, placenta development, placenta weight, preeclampsia, pregnancy, pregnancy complication, progeny, Medicin och hälsovetenskap, Klinisk medicin, Reproduktionsmedicin och gynekologi, Medical and Health Sciences, Clinical Medicine, Obstetrics, Gynecology and Reproductive Medicine

URL الوصول: https://lup.lub.lu.se/record/8987bd1e-b0f3-4e7b-9663-74ee79f05987
http://dx.doi.org/10.1038/s41588-023-01520-w

المؤلفون: Karlova, M., Abramochkin, D. V., Pustovit, K. B., Nesterova, T., Novoseletsky, V., Loussouarn, G., Zaklyazminskaya, E., Sokolova, O. S.

المصدر: International Journal of Molecular Sciences

مصطلحات موضوعية: IKS, INHERITED CHANNELOPATHY, KCNQ1, KV7.1, LQTS, PATCH-CLAMP, KCNQ1 PROTEIN, HUMAN, POTASSIUM CHANNEL KCNQ1, AGED, CASE REPORT, GENETICS, HETEROZYGOTE, LONG QT SYNDROME, MALE, METABOLISM, MUTATION, POINT MUTATION, PRESCHOOL CHILD, CHILD, PRESCHOOL, HUMANS, KCNQ1 POTASSIUM CHANNEL

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/RSF//22-14-00088; Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome / M. Karlova, D. V. Abramochkin, K. B. Pustovit et al. // International Journal of Molecular Sciences. — 2022. — Vol. 23. — Iss. 14. — 7953.; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85135102168&doi=10.3390%2fijms23147953&partnerID=40&md5=f1dba3eb7b0a72a47ef3c18d043b3681; http://elar.urfu.ru/handle/10995/118022; 85135102168; 000833279900001

الاتاحة: http://elar.urfu.ru/handle/10995/118022
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85135102168&doi=10.3390%2fijms23147953&partnerID=40&md5=f1dba3eb7b0a72a47ef3c18d043b3681
https://doi.org/10.3390/ijms23147953

المؤلفون: Jasmin Müller, Sivatharushan Sivanathan, Veronika Matschke, Julian A. Schreiber, Janina Schubert, Nathalie Strutz-Seebohm, Marco Lübke, Thang Le Quoc, Guiscard Seebohm, Jürgen Scherkenbeck, Florian Körber

المصدر: Chemmedchem

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pharmacology, Xenopus Proteins, 01 natural sciences, Biochemistry, Sudden death, Loss of function mutation, chemistry.chemical_compound, Xenopus laevis, mode of action, Drug Discovery, Repolarization, Animals, Humans, Benzopyrans, General Pharmacology, Toxicology and Pharmaceutics, Mode of action, total synthesis, Ion channel, natural product rottlerin, Binding Sites, Full Paper, 010405 organic chemistry, Organic Chemistry, Acetophenones, Cardiac action potential, Full Papers, 0104 chemical sciences, Molecular Docking Simulation, 010404 medicinal & biomolecular chemistry, chemistry, Ion channel activity, Potassium Channels, Voltage-Gated, KCNQ1 Potassium Channel, Oocytes, Molecular Medicine, Rottlerin, potassium channel KCNQ1 activator, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0792c5a442b3477209d2818a941eb8b
http://europepmc.org/articles/PMC7318133

المصدر: Journal of the American College of Cardiology. 55(23):2570-2576

مصطلحات موضوعية: lifestyle, faintness, genetic association, phenotype, electrocardiography, exercise test, heart arrhythmia, potassium channel KCNQ1, DNA determination, QT prolongation, ryanodine receptor 2, male, bisoprolol, follow-up, sodium channel Nav1.5, long QT syndrome, echocardiography, follow up, heterozygosity, Brugada syndrome, controlled study, cardiovascular diseases, propranolol, gene mutation, human, cardiogenetics, catecholaminergic polymorphic ventricular tachycardia, adult, article, beta adrenergic receptor blocking agent, prophylactic treatment, DNA, genetic screening, metoprolol, major clinical study, Holter monitoring, female, priority journal, inherited arrhythmias

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::819c4fe55e26dd5310d0aba9300df7b9
https://hdl.handle.net/11370/3d21954d-b6dd-4a02-98b4-903be3275e9e

المؤلفون: Arthur A.M. Wilde, Irene M. van Langen

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), Amsterdam Cardiovascular Sciences, Cardiology

المصدر: Heart Rhythm, 3(11), 1356-1359. ELSEVIER SCIENCE INC
Heart rhythm, 3(11), 1356-1359. Elsevier

مصطلحات موضوعية: artificial heart pacemaker, sudden infant death syndrome, Pediatrics, genotype, Gene mutation, Sudden cardiac death, Electrocardiography, cisapride, newborn, Heart Rate, sodium channel Nav1.5, gender, Mass Screening, gene mutation, deptropine, article, beta adrenergic receptor blocking agent, unclassified drug, priority journal, risk factor, Anesthesia, depression, medicine.symptom, Cardiology and Cardiovascular Medicine, Sudden Infant Death, potassium channel, medicine.medical_specialty, phenotype, Long QT syndrome, drug cost, potassium channel KCNQ1, preventive medicine, Sudden death, QT interval, ganglionectomy, socioeconomics, Physiology (medical), geographic distribution, long QT syndrome, medicine, Humans, human, low birth weight, sleep, Mass screening, drug use, supine position, potassium channel KCNH2, passive smoking, newborn screening, business.industry, cost effectiveness analysis, high risk population, Infant, Newborn, Sudden infant death syndrome, medicine.disease, Low birth weight, Death, Sudden, Cardiac, incidence, world health organization, promethazine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab40a863c1950186c9c09e05ee19bef
https://doi.org/10.1016/j.hrthm.2006.07.015

المؤلفون: Cangül, Hakan, Archer, Caroline N. S.

المساهمون: Tıp Fakültesi, Tıbbi Genetik Ana Bilim Dalı, Çocuk Kardiyoloji Ana Bilim Dalı, orcid:0000-0003-3516-0082, Bostan, Özlem Mehtap, Temel, Şehime Gülsün, Çil, Ergün, AAG-8558-2021, AAG-8385-2021, AAH-3865-2021, AAG-9324-2021, 8676936500, 6507885442, 35587943300

مصطلحات موضوعية: Cardiovascular system & cardiology, Pediatrics, Autosomal recessive long QT syndrome, Deafness, p.Arg243His, Long-Qt-syndrome, KVLQT1, Spectrum, Child, preschool, DNA, DNA mutational analysis, Electrocardiography, Family, Female, Homozygote, Humans, Jervell-Lange Nielsen syndrome, KCNQ1 potassium channel, Mutation, missense, Pedigree, Turkey, Cardiac & cardiovascular systems, Potassium Channels, Torsade Des Pointes, Magnesium sulfate, Potassium channel KCNQ1, Propranolol, Article

Relation: Makale - Uluslararası Hakemli Dergi; Pediatric Cardiology; Yurt dışı; Yurt içi; https://hdl.handle.net/11452/40597; 000327065100072; 2063; 2067; 34

الاتاحة: https://hdl.handle.net/11452/40597
https://link.springer.com/article/10.1007/s00246-013-0634-3
https://doi.org/10.1007/s00246-013-0634-3

المؤلفون: Marilyn Renfree, Anthony Papenfuss, Janine Deakin, Zhi Ping Feng

مصطلحات موضوعية: Genomics, Notch1 receptor, Piwi interacting RNA, XRCC1 protein, alpha lactalbumin, beta casein, beta lactoglobulin, complementary DNA, growth hormone, growth hormone receptor, insulin, interleukin 7 receptor, kappa casein, luteinizing hormone, microRNA, octamer transcription factor 4, potassium channel KCNQ1, prolactin, protein Nodal, somatomedin C, sonic hedgehog protein, transcription factor CTCF, transcription factor Cdx2, transcription factor GATA 3, transcription factor GATA 4, transcription factor GATA 6, transcription factor NANOG, transcription factor Sox2, transcriptome, transient receptor potential channel 2

Relation: 10779/rmit.27486240.v1; https://figshare.com/articles/journal_contribution/Genome_sequence_of_an_Australian_kangaroo_Macropus_eugenii_provides_insight_into_the_evolution_of_mammalian_reproduction_and_development/27486240

الاتاحة: https://figshare.com/articles/journal_contribution/Genome_sequence_of_an_Australian_kangaroo_Macropus_eugenii_provides_insight_into_the_evolution_of_mammalian_reproduction_and_development/27486240

المؤلفون: Hofman, Nynke, Tan, Hanno L., Alders, Marielle, van Langen, Irene M., Wilde, Arthur A.M.

المصدر: Hofman , N , Tan , H L , Alders , M , van Langen , I M & Wilde , A A M 2010 , ' Active Cascade Screening in Primary Inherited Arrhythmia Syndromes : Does It Lead to Prophylactic Treatment? ' , Journal of the American College of Cardiology , vol. 55 , no. 23 , pp. 2570-2576 . https://doi.org/10.1016/j.jacc.2009.12.063

مصطلحات موضوعية: cardiogenetics, follow-up, inherited arrhythmias, prophylactic treatment, beta adrenergic receptor blocking agent, bisoprolol, DNA, metoprolol, potassium channel KCNQ1, propranolol, ryanodine receptor 2, sodium channel Nav1.5, adult, article, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, controlled study, DNA determination, echocardiography, electrocardiography, exercise test, female, follow up, gene mutation, genetic association, genetic screening, heart arrhythmia, heterozygosity, Holter monitoring, human

الاتاحة: https://hdl.handle.net/11370/3d21954d-b6dd-4a02-98b4-903be3275e9e
https://research.rug.nl/en/publications/3d21954d-b6dd-4a02-98b4-903be3275e9e
https://doi.org/10.1016/j.jacc.2009.12.063

المؤلفون: Tziastoudi M., Stefanidis I., Zintzaras E.

المصدر: Clinical Kidney Journal ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85101071282&doi=10.1093%2fCKJ%2fSFAA077&partnerID=40&md5=4be420d2eed87aba3f0c969a2e7f988c

مصطلحات موضوعية: 5,10 methylenetetrahydrofolate reductase (FADH2), acetyl coenzyme A carboxylase, acetyl coenzyme A carboxylase beta, adipocytokine, adiponectin, apolipoprotein E, carnosine dipeptidase 1, chemokine receptor CCR5, dipeptidyl carboxypeptidase, endothelial nitric oxide synthase, engulfment and cell motility 1 protein, glucose transporter 1, glucose transporter 2, high mobility group A2 protein, histone lysine methyltransferase, interleukin 10, interleukin 1beta, interleukin 8, potassium channel KCNQ1, pyruvic acid, SET domain containing 7 histone lysine methyltransferase, sirtuin 1, sodium chloride cotransporter, somatomedin B, tissue inhibitor of metalloproteinase 1, transcription factor 7 like 2, transforming growth factor beta1, unclassified drug, vasculotropin A, vasculotropin receptor 3

Relation: http://hdl.handle.net/11615/80246

الاتاحة: http://hdl.handle.net/11615/80246
https://doi.org/10.1093/CKJ/SFAA077

المؤلفون: Liu, Xin, Dobbie, Michael S, Tunningley, Robert, Whittle, Belinda, Zhang, Yafei, Ittner, Lars M, Gotz, Jurgen

المصدر: Journal of Biomedicine and Biotechnology

مصطلحات الفهرس: Keywords: gamma glutamyltransferase; hexokinase; myelin protein; phosphoprotein phosphatase 2A; SUMO 1 protein; T box transcription factor; tau protein; Kcnq1 protein, mouse; myelin protein; potassium channel KCNQ1; tau protein; Alzheimer disease; article; body wei, Journal article

URL: http://hdl.handle.net/1885/53520

المؤلفون: Crotti, L, Insolia, R, Ferrandi, C, Pedrazzini, M, Cuoretti, A, Gandolfi, E, Sanzo, A, Dagradi, F, Schwartz, P, Crotti L, Insolia R, Ferrandi C, Pedrazzini M, Cuoretti A, Gandolfi E, Sanzo A, Dagradi F, Schwartz PJ.

مصطلحات الفهرس: long qt syndrome, cardiac potassium channel, KCNQ1, mutation, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/190054
https://link.springer.com/article/10.1007%2Fs00439-008-0503-y
info:eu-repo/semantics/altIdentifier/pmid/20960614
volume:123
issue:5
firstpage:541
lastpage:541
numberofpages:1
journal:HUMAN GENETICS