Genetic Discovery of ATP-Sensitive K + Channels in Cardiovascular Diseases

Changes of the echocardiographic parameters in chronic heart failure patients with Ile337val, Glu23lys, and Ser1369ala polymorphisms of genes encoding the ATP-sensitive potassium channels subunits in the Ukrainian population

(2018) R. B. Strutynskyi et al.   ANNALS OF HUMAN GENETICS

Evidence for a mitochondrial ATP-regulated potassium channel in human dermal fibroblasts

(2018) Piotr Bednarczyk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

ATP-sensitive potassium channels in the sinoatrial node contribute to heart rate control and adaptation to hypoxia

(2018) Qadeer Aziz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondria from rat uterine smooth muscle possess ATP-sensitive potassium channel

(2018) Olga B. Vadzyuk et al.   SAUDI JOURNAL OF BIOLOGICAL SCIENCES

Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation

(2018) Rosa Doñate Puertas et al.   Biomed Research International

Clinical utility gene card for: Cantú syndrome

(2017) Edwin P Kirk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The E23K variant of the Kir6.2 subunit of the ATP-sensitive potassium channel increases susceptibility to ventricular arrhythmia in response to ischemia in rats

(2017) Ying Feng et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in KATPchannel gain-of-function by differential mechanisms

(2017) Conor McClenaghan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Electrophysiological analyses of transgenic mice overexpressing KCNJ8 with S422L mutation in cardiomyocytes

(2017) Yasuhiro Watanabe et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Association between potassium channel SNPs and essential hypertension in Xinjiang Kazak Chinese patients

(2017) Yuan-Yuan Han et al.   Experimental and Therapeutic Medicine

Anti-diabetic drug binding site in a mammalian KATP channel revealed by Cryo-EM

(2017) Gregory M Martin et al.   eLife

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China

(2016) Liyong Zhang et al.   MAYO CLINIC PROCEEDINGS

De Novo Mutation inABCC9Causes Hypertrichosis Acromegaloid Facial Features Disorder

(2016) Hanan H. Afifi et al.   PEDIATRIC DERMATOLOGY

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome

(2015) Mark D. Levin et al.   HEART RHYTHM

Differential mechanisms of Cantú syndrome–associated gain of function mutations in theABCC9(SUR2) subunit of the KATPchannel

(2015) Paige E. Cooper et al.   JOURNAL OF GENERAL PHYSIOLOGY

The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and blood pressure in the Chinese population

(2015) Langen Zhuang et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies

(2015) Stephan Waldmüller et al.   MOLECULAR AND CELLULAR PROBES

Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel

(2015) Patrícia B. S. Celestino-Soper et al.   PLoS One

A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension

(2014) Jae Young Park et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

(2014) Paige E. Cooper et al.   HUMAN MUTATION

The ATP-Sensitive Potassium Channel Subunit, Kir6.1, in Vascular Smooth Muscle Plays a Major Role in Blood Pressure Control

(2014) Qadeer Aziz et al.   HYPERTENSION

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene

(2014) Dan Hu et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Tuning the electrical properties of the heart by differential trafficking of KATP ion channel complexes

(2014) E. C. Arakel et al.   JOURNAL OF CELL SCIENCE

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

(2013) Yoko Hiraki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9

(2013) Johanna Christina Czeschik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease

(2013) Francesco Fedele et al.   BASIC RESEARCH IN CARDIOLOGY

The role of ATP-sensitive potassium channels in cellular function and protection in the cardiovascular system

(2013) Andrew Tinker et al.   BRITISH JOURNAL OF PHARMACOLOGY

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews

(2013) Krishna R Veeramah et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

(2013) Catherine A. Brownstein et al.   European Journal of Medical Genetics

Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel

(2013) H.L. Xi et al.   GENETICS AND MOLECULAR RESEARCH

Coronary spasm and acute myocardial infarction due to a mutation (V734I) in the nucleotide binding domain 1 of ABCC9

(2013) Keith J. Smith et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Hypotension Due to Kir6.1 Gain‐of‐Function in Vascular Smooth Muscle

(2013) Anlong Li et al.   Journal of the American Heart Association

Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels

(2013) Gregory M. Martin et al.   Frontiers in Physiology

Cantú Syndrome Is Caused by Mutations in ABCC9

(2012) Bregje W.M. van Bon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial ROMK Channel Is a Molecular Component of MitoK ATP

(2012) D. Brian Foster et al.   CIRCULATION RESEARCH

A KCNJ8 mutation associated with early repolarization and atrial fibrillation

(2012) J. T. Delaney et al.   EUROPACE

Dominant missense mutations in ABCC9 cause Cantú syndrome

(2012) Magdalena Harakalova et al.   NATURE GENETICS

Association of the antihypertensive response of iptakalim with KCNJ11 (Kir6.2 gene) polymorphisms in Chinese Han hypertensive patients

(2011) Rui-feng Duan et al.   ACTA PHARMACOLOGICA SINICA

“Cardiac K ATP ”

(2011) Thomas P. Flagg et al.   Circulation-Arrhythmia and Electrophysiology

Unique Properties of the ATP-Sensitive K + Channel in the Mouse Ventricular Cardiac Conduction System

(2011) Li Bao et al.   Circulation-Arrhythmia and Electrophysiology

Loss-of-Function Mutations in the KCNJ8 -Encoded Kir6.1 K ATP Channel and Sudden Infant Death Syndrome

(2011) David J. Tester et al.   Circulation-Cardiovascular Genetics

Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8

(2011) Hector Barajas-Martínez et al.   HEART RHYTHM

Effects of KATP channel openers diazoxide and pinacidil in coronary-perfused atria and ventricles from failing and non-failing human hearts

(2011) Vadim V. Fedorov et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

(2010) Argelia Medeiros-Domingo et al.   HEART RHYTHM

Muscle KATP Channels: Recent Insights to Energy Sensing and Myoprotection

(2010) Thomas P. Flagg et al.   PHYSIOLOGICAL REVIEWS

Molecular Identification and Functional Characterization of a Mitochondrial Sulfonylurea Receptor 2 Splice Variant Generated by Intraexonic Splicing

(2009) Bin Ye et al.   CIRCULATION RESEARCH

KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response

(2009) Santiago Reyes et al.   HUMAN GENETICS

Differential KATP channel pharmacology in intact mouse heart

(2009) Alexey V. Glukhov et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Role of Sulfonylurea Receptor Type 1 Subunits of ATP-Sensitive Potassium Channels in Myocardial Ischemia/Reperfusion Injury

(2008) John W. Elrod et al.   CIRCULATION

Differential Structure of Atrial and Ventricular K ATP

(2008) Thomas P. Flagg et al.   CIRCULATION RESEARCH

Forkhead Transcription Factors Coordinate Expression of Myocardial KATP Channel Subunits and Energy Metabolism

(2008) Pierre Philip-Couderc et al.   CIRCULATION RESEARCH

KATP channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study

(2008) Santiago Reyes et al.   HUMAN GENETICS

Functional Clustering of Mutations in the Dimer Interface of the Nucleotide Binding Folds of the Sulfonylurea Receptor

(2008) Ricard Masia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATPChannel

(2008) MICHEL HAÏSSAGUERRE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Calcium Cycling and Signaling in Cardiac Myocytes

(2007) Donald M. Bers   Annual Review of Physiology