المؤلفون: Jean-Sébastien Rougier, Vincent Portero, Gerard A Marchal, Carol Ann Remme, Zizun Wang, Daniela Ross-Kaschitza, Connie R. Bezzina, Hugues Abriel, Wendy K. Chung, Simona Casini, Maxime Albesa

المساهمون: Cardiology, ACS - Heart failure & arrhythmias, Graduate School, APH - Methodology

المصدر: Casini, Simona; Albesa, Maxime; Wang, Zizun; Portero, Vincent; Ross-Kaschitza, Daniela; Rougier, Jean-Sébastien; Marchal, Gerard A; Chung, Wendy K; Bezzina, Connie R; Abriel, Hugues; Remme, Carol Ann (2019). Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice. International journal of molecular sciences, 20(20) Molecular Diversity Preservation International MDPI 10.3390/ijms20205033 <http://dx.doi.org/10.3390/ijms20205033Test>
International journal of molecular sciences, 20(20):5033. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, Vol 20, Iss 20, p 5033 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 20

مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, media_common.quotation_subject, Long QT syndrome, mouse model, 610 Medicine & health, 030204 cardiovascular system & hematology, Catalysis, Sudden cardiac death, Inorganic Chemistry, lcsh:Chemistry, 03 medical and health sciences, nedd4-2, 0302 clinical medicine, action potential, Ubiquitin, medicine, Physical and Theoretical Chemistry, long qt syndrome, Internalization, ubiquitylation, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, media_common, sodium current, biology, Sodium channel, scn5a, Organic Chemistry, HEK 293 cells, General Medicine, patch-clamp, medicine.disease, 3. Good health, Computer Science Applications, Ubiquitin ligase, Cell biology, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, biology.protein, cardiovascular system, 570 Life sciences

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b16c020094caea5e7d0ce05e5c150d6Test
https://boris.unibe.ch/138164/1/ijms-20-05033.pdfTest

المؤلفون: Gildas Loussouarn, Vincent Probst, Thomas O'Hara, Christian Dina, Carol Scott, Eléonore Moreau, Solena Le Scouarnec, Stéphanie Chatel, Stéphanie Bonnaud, Hervé Le Marec, Sophie Burel, Flavien Charpentier, Jade Violleau, Isabelle Baró, Estelle Baron, Pierre Lindenbaum, Vincent Portero, Jean-Jacques Schott, Floriane Simonet, Céline Marionneau, Philippe Mabo, Zeineb Es‐Salah‐Lamoureux, Jean-Baptiste Gourraud, Richard Redon

المساهمون: Jonchère, Laurent, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), The Wellcome Trust Sanger Institute [Cambridge], CIC-IT Rennes, Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], Leducq Foundation [CVD-05], Fondation pour la Recherche Medicale [DEQ20140329545], Inserm, French Regional Council of Pays-de-la-Loire, Fondation Lefoulon-Delalande, Fondation pour la Recherche Medicale, Fondation Genavie, Wellcome Trust [WT098051], European Commission [NavEx-256397], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Journal of the American Heart Association
Journal of the American Heart Association, 2016, 5 (6), pp.e003122. ⟨10.1161/JAHA.115.003122⟩
Journal of the American Heart Association, Wiley-Blackwell, 2016, 5 (6), pp.e003122. ⟨10.1161/JAHA.115.003122⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Arrhythmias, 030204 cardiovascular system & hematology, whole exome sequencing, NAV1.5 Voltage-Gated Sodium Channel, Electrocardiography, 0302 clinical medicine, Genotype, Missense mutation, Arrhythmia and Electrophysiology, genetics, Exome sequencing, risk, Original Research, Brugada syndrome, Genetics, maps, clinical electrophysiology, potassium ion channels, potassium channels, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Pedigree, 3. Good health, Electrophysiology, modulation, Shal Potassium Channels, Potassium Channels, Voltage-Gated, Gain of Function Mutation, Cardiology, Female, abnormalities, Cardiology and Cardiovascular Medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, gene prioritization, j-wave syndromes, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Polymorphism, Single Nucleotide, Sudden death, sudden cardiac death, cardiac arrhythmia, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Genetic linkage, Internal medicine, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Gene, disease, business.industry, KCNAB2/Kvβ2, mutations, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Shaker Superfamily of Potassium Channels, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d3440d96795391b62f34d35fdffadddTest
https://doi.org/10.1161/jaha.115.003122Test

المؤلفون: Solena Le Scouarnec, Raluca Teusan, Stéphanie Bonnaud, Vincent Portero, Frederic Sacher, Sébastien Schmitt, Richard Redon, Jean-Baptiste Gourraud, Jade Violleau, Raphaël P. Martins, Julien Barc, Pierre Lindenbaum, Hervé Le Marec, Michel Haïssaguerre, Christian Dina, Estelle Baron, Lise Bellanger, Jean-Jacques Schott, Elodie Persyn, F. Kyndt, Philippe Mabo, Matilde Karakachoff, Vincent Probst, Stéphanie Chatel, Floriane Simonet, Laëtitia Duboscq-Bidot, Stéphane Bézieau, Xavier Daumy

المساهمون: Cardiology, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Mathématiques Jean Leray (LMJL), Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], Service de Génétique, Centre hospitalier universitaire de Nantes (CHU Nantes), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Human molecular genetics, 24(10), 2757-2763. Oxford University Press
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (10), pp.2757--2763. ⟨10.1093/hmg/ddv036⟩
Human Molecular Genetics, 2015, 24 (10), pp.2757--2763. ⟨10.1093/hmg/ddv036⟩

مصطلحات موضوعية: Adult, Male, [SDV]Life Sciences [q-bio], Population, 030204 cardiovascular system & hematology, Biology, White People, NAV1.5 Voltage-Gated Sodium Channel, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetic variation, Genetics, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, education, Molecular Biology, Allele frequency, Genetic Association Studies, Genetics (clinical), Brugada Syndrome, 030304 developmental biology, Brugada syndrome, 0303 health sciences, education.field_of_study, fungi, Cardiac arrhythmia, Arrhythmias, Cardiac, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, 3. Good health, Minor allele frequency, Genes, Mutation, Ventricular fibrillation, cardiovascular system, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82a7e220206ae83735e79cb61fa7449Test
https://pure.amc.nl/en/publications/testing-the-burden-of-rare-variation-in-arrhythmiasusceptibility-genes-provides-new-insights-into-molecular-diagnosis-for-brugada-syndromeTest(21b01ce8-86af-4ceb-9bff-cc9a3f3620df).html

المؤلفون: Michel Haïssaguerre, Hervé Le Marec, Solena Le Scouarnec, Frederic Sacher, Juan E. Sandoval, Nicolas Derval, Vincent Probst, Jean-Jacques Schott, Philippe Mabo, Jean-Baptiste Gourraud, Pascal Chavernac, Stéphanie Chatel, Richard Redon, Vincent Portero

المساهمون: unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Département de cardiologie, CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie et maladies vasculaires, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]

المصدر: Journal of the American College of Cardiology
Journal of the American College of Cardiology, Elsevier, 2013, 61 (2), pp.164-72. ⟨10.1016/j.jacc.2012.09.040⟩

مصطلحات موضوعية: Proband, Male, Benign early repolarization, medicine.medical_treatment, Disease, 030204 cardiovascular system & hematology, early repolarization syndrome, Electrocardiography, 0302 clinical medicine, [INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing, Heart Rate, Valsalva maneuver, MESH: Syndrome, 030212 general & internal medicine, Young adult, MESH: Heart Rate, MESH: Aged, MESH: Middle Aged, medicine.diagnostic_test, Syndrome, Middle Aged, 3. Good health, Pedigree, MESH: Arrhythmias, Cardiac, familial inheritance, MESH: Young Adult, Cardiology, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Female, Cardiology and Cardiovascular Medicine, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, MESH: Valsalva Maneuver, Adult, medicine.medical_specialty, Adolescent, MESH: Pedigree, Valsalva Maneuver, 03 medical and health sciences, Young Adult, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, Heart rate, medicine, Humans, Aged, MESH: Adolescent, MESH: Humans, business.industry, MESH: Adult, MESH: Death, Sudden, Cardiac, Arrhythmias, Cardiac, medicine.disease, ventricular fibrillation, MESH: Male, MESH: Electrocardiography, Endocrinology, Death, Sudden, Cardiac, Ventricular fibrillation, business, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae605239a694495fe745afed5e24df60Test
https://pubmed.ncbi.nlm.nih.gov/23273291Test