David J Tester Selected Research

triadin

1/2020	Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.
1/2020	Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript.
1/2019	International Triadin Knockout Syndrome Registry.
3/2017	Congenital myopathy associated with the triadin knockout syndrome.
6/2015	Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

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David J Tester Research Topics

Disease

47	Long QT Syndrome 01/2022 - 05/2002
20	Cardiac Arrhythmias (Arrythmia) 01/2021 - 08/2002
17	Sudden Infant Death (SID) 01/2020 - 06/2004
15	Polymorphic catecholergic ventricular tachycardia 01/2020 - 11/2004
12	Channelopathies 01/2020 - 08/2002
10	Sudden Death 12/2021 - 10/2005
10	Brugada Syndrome 12/2016 - 08/2002
7	Cardiomyopathies (Cardiomyopathy) 05/2022 - 06/2007
7	Cardiac Sudden Death (Sudden Cardiac Arrest) 11/2020 - 12/2003
4	Cardiovascular Diseases (Cardiovascular Disease) 01/2017 - 10/2012
3	Acidosis 01/2022 - 05/2011
3	Ventricular Tachycardia 01/2020 - 05/2002
3	Bradycardia 01/2019 - 03/2004
3	Syncope (Fainting) 01/2018 - 11/2009
3	Andersen Syndrome 10/2009 - 10/2004
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 08/2008 - 05/2006
2	Heart Diseases (Heart Disease) 01/2020 - 08/2008
2	Heart Arrest (Cardiac Arrest) 01/2020 - 06/2015
2	Cardiomegaly (Heart Hypertrophy) 10/2019 - 01/2017
2	Irritable Bowel Syndrome (Syndrome, Irritable Bowel) 06/2014 - 02/2009
2	Drowning 10/2011 - 05/2005
1	Ventricular Fibrillation 05/2022
1	Ventricular Premature Complexes (Premature Ventricular Contraction) 05/2022
1	Lipodystrophy 05/2022
1	Hypoxia (Hypoxemia) 01/2022
1	Torsades de Pointes (Torsade de Pointes) 01/2021
1	Cystic Fibrosis (Mucoviscidosis) 10/2020
1	Right Ventricular Dysfunction 01/2020
1	Sudden Unexpected Death in Epilepsy 01/2020
1	Hypertrophy 10/2019
1	Apical Hypertrophic Cardiomyopathy 10/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2019
1	Supraventricular Tachycardia 01/2019
1	Mitral Valve Prolapse 01/2019
1	Autism Spectrum Disorder 01/2019
1	Muscular Diseases (Myopathy) 03/2017
1	Muscle Weakness 03/2017
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2017
1	Glycogen Storage Disease Type VI (Glycogenosis Type VI) 01/2017
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2017
1	Timothy syndrome 12/2016
1	Disease Susceptibility (Diathesis) 09/2016
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 02/2016
1	Muscle Hypotonia (Hypotonia) 02/2016
1	Nervous System Diseases (Neurological Disorders) 02/2016
1	Romano-Ward Syndrome 04/2015
1	Familial Hypertrophic Cardiomyopathy (Cardiomyopathy, Familial Hypertrophic) 08/2014
1	Constipation 06/2014
1	Microcephaly 01/2014
1	Infant Death 01/2014
1	Abnormal Reflex (Hyperreflexia) 01/2014

Drug/Important Bio-Agent (IBA)

22	DNA (Deoxyribonucleic Acid)IBA 11/2014 - 06/2004
19	Sodium Channels (Sodium Channel)IBA 01/2018 - 08/2002
16	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2020 - 10/2004
13	Proteins (Proteins, Gene)FDA Link 11/2020 - 05/2005
10	Ion Channels (Ion Channel)IBA 11/2020 - 07/2007
8	SodiumIBA 06/2014 - 08/2002
5	triadinIBA 01/2020 - 06/2015
4	Pharmaceutical PreparationsIBA 01/2022 - 08/2002
4	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 01/2019 - 06/2013
4	Ether (Diethyl Ether)IBA 12/2012 - 07/2005
3	KCNQ1 Potassium ChannelIBA 01/2022 - 01/2018
3	CalciumIBA 12/2021 - 06/2007
3	Caveolin 3IBA 11/2020 - 11/2006
3	Potassium Channels (Potassium Channel)IBA 01/2020 - 12/2003
3	Calmodulin (Calcium-Dependent Activator Protein)IBA 01/2019 - 01/2016
3	NucleotidesIBA 01/2019 - 10/2012
2	Biological ProductsIBA 01/2019 - 12/2018
2	Phosphotransferases (Kinase)IBA 01/2019 - 06/2007
2	Voltage-Gated Sodium ChannelsIBA 01/2018 - 06/2014
2	Adenosine Triphosphatases (ATPase)IBA 08/2014 - 12/2009
2	Mexiletine (Mexitil)FDA LinkGeneric 06/2014 - 08/2002
2	AnkyrinsIBA 11/2006 - 11/2005
1	Lamin Type A (Lamin A)IBA 05/2022
1	Polyvinyl Chloride (PVC)IBA 05/2022
1	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 01/2022
1	Adenosine Monophosphate (AMP)IBA 01/2021
1	lumacaftorIBA 10/2020
1	Myosin Light Chains (Myosin Essential Light Chain)IBA 10/2019
1	FilaminsIBA 01/2019
1	Monovalent CationsIBA 01/2019
1	Troponin IIBA 01/2019
1	GlucocorticoidsIBA 12/2018
1	Cadherins (E-Cadherin)IBA 03/2017
1	Nonsense Codon (Nonsense Mutation)IBA 09/2016
1	MAP kinase kinase kinase 7IBA 09/2016
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 02/2016
1	Neurotransmitter Agents (Neurotransmitter)IBA 02/2016
1	Thyroxine (Levothyroxine)FDA LinkGeneric 02/2016
1	Q-Type Calcium Channels (Q-Type Calcium Channel)IBA 02/2016
1	Myosins (Myosin)IBA 08/2014
1	Genetic Markers (Genetic Marker)IBA 08/2014
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 08/2014
1	Semaphorins (Semaphorin)IBA 08/2014
1	Semaphorin-3AIBA 08/2014
1	dimemorfan (AT 17)IBA 01/2014

Therapy/Procedure

5	Therapeutics 10/2020 - 03/2004
2	Precision Medicine 01/2017 - 04/2013
1	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 01/2018
1	Genomic Medicine 01/2017