J Martijn Bos Selected Research

KCNQ1 Potassium Channel

1/2022	A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.
1/2021	Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.

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J Martijn Bos Research Topics

Disease

25	Long QT Syndrome 10/2022 - 09/2011
19	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 10/2020 - 05/2006
11	Cardiac Sudden Death (Sudden Cardiac Arrest) 10/2022 - 12/2012
9	Heart Arrest (Cardiac Arrest) 01/2021 - 04/2013
7	Syncope (Fainting) 10/2022 - 08/2013
7	Cardiovascular Diseases (Cardiovascular Disease) 01/2022 - 08/2012
7	Cardiac Arrhythmias (Arrythmia) 01/2021 - 08/2012
7	Ventricular Fibrillation 07/2017 - 09/2011
6	Seizures (Absence Seizure) 10/2022 - 08/2013
6	Cardiomyopathies (Cardiomyopathy) 03/2017 - 12/2006
5	Cardiomegaly (Heart Hypertrophy) 01/2022 - 01/2017
5	Polymorphic catecholergic ventricular tachycardia 01/2020 - 06/2015
4	Hypertrophy 01/2022 - 02/2017
3	Heart Diseases (Heart Disease) 10/2021 - 08/2008
3	Channelopathies 10/2018 - 08/2012
3	Sudden Death 11/2010 - 08/2008
2	Fibrosis (Cirrhosis) 01/2021 - 01/2010
2	Shock 11/2020 - 08/2013
2	Hypoglycemia (Reactive Hypoglycemia) 01/2018 - 08/2015
2	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2017 - 08/2007
2	Stroke (Strokes) 03/2016 - 10/2008
2	Heart Failure 11/2015 - 10/2008
1	Dizziness (Lightheadedness) 01/2022
1	Wilms Tumor (Wilm's Tumor) 01/2022
1	Death (Near-Death Experience) 01/2021
1	COVID-19 01/2020
1	Apical Hypertrophic Cardiomyopathy 10/2019
1	Glycogen Storage Disease Type VI (Glycogenosis Type VI) 01/2017
1	Long QT syndrome type 3 01/2017
1	Transient Ischemic Attack 03/2016
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 08/2015
1	Torsades de Pointes (Torsade de Pointes) 01/2015
1	Epilepsy (Aura) 01/2014
1	Ventricular Tachycardia 04/2013
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 02/2012
1	Cicatrix (Scar) 10/2008
1	Aneurysm (Aneurysms) 10/2008
1	LEOPARD Syndrome (Syndrome, LEOPARD) 08/2007
1	Hyperplasia 06/2007

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 01/2022 - 12/2006
4	CalciumIBA 01/2022 - 06/2007
2	Sodium Channel BlockersIBA 10/2022 - 01/2019
2	KCNQ1 Potassium ChannelIBA 01/2022 - 01/2021
2	Ventricular MyosinsIBA 10/2020 - 07/2009
2	Potassium Channels (Potassium Channel)IBA 01/2019 - 01/2014
2	Sodium Channels (Sodium Channel)IBA 01/2019 - 01/2017
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 04/2016
2	junctophilinIBA 02/2017 - 06/2007
2	Troponin CIBA 10/2015 - 08/2008
2	ConnectinIBA 02/2012 - 05/2006
2	GadoliniumIBA 01/2010 - 10/2008
1	Lidocaine (Xylocaine)FDA LinkGeneric 01/2022
1	Verapamil (Calan)FDA LinkGeneric 01/2022
1	SDMIBA 10/2021
1	Adenosine Monophosphate (AMP)IBA 01/2021
1	AngiotensinsIBA 01/2020
1	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 01/2020
1	Anti-Arrhythmia AgentsIBA 01/2020
1	Angiotensin-Converting Enzyme 2IBA 01/2020
1	Myosin Light Chains (Myosin Essential Light Chain)IBA 10/2019
1	triadinIBA 01/2019
1	Ion Channels (Ion Channel)IBA 01/2019
1	Mexiletine (Mexitil)FDA LinkGeneric 01/2019
1	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 01/2019
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2019
1	Brain Natriuretic Peptide (Natrecor)FDA Link 01/2018
1	Cadherins (E-Cadherin)IBA 03/2017
1	Troponin IIBA 12/2015
1	TeaIBA 12/2015
1	Catechin (Z 7300)IBA 12/2015
1	Glucose (Dextrose)FDA LinkGeneric 08/2015
1	Complement System Proteins (Complement)IBA 06/2015
1	Pharmaceutical PreparationsIBA 01/2015
1	Anticonvulsants (Antiepileptic Drugs)IBA 07/2014
1	ForminsIBA 02/2013
1	Epinephrine (Adrenaline)FDA LinkGeneric 12/2012
1	phospholambanIBA 01/2011
1	myosin-binding protein CIBA 07/2009
1	Troponin T (Troponin T1)IBA 08/2008
1	TropomyosinIBA 08/2008
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 08/2007
1	DNA (Deoxyribonucleic Acid)IBA 12/2006
1	cysteine and glycine-rich protein 3IBA 05/2006

Therapy/Procedure

17	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 10/2022 - 10/2008
13	Therapeutics 10/2022 - 04/2015
13	Sympathectomy (Sympathectomies) 10/2022 - 09/2011
4	Defibrillators (Defibrillator) 01/2021 - 04/2013
2	Secondary Prevention 04/2013 - 08/2012
1	General Anesthesia 01/2018
1	Combination Drug Therapy (Combination Chemotherapy) 01/2017
1	Heart Transplantation (Grafting, Heart) 01/2017
1	Transplantation 11/2015
1	Genomic Medicine 05/2007