ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9

KATP Channel Expression and Genetic Polymorphisms Associated with Progression and Survival in Amyotrophic Lateral Sclerosis

(2018) José M. Vidal-Taboada et al.   MOLECULAR NEUROBIOLOGY

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

(2018) Federico Tessadori et al.   Disease Models & Mechanisms

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

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel

(2017) Paige E. Cooper et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cryo-EM structure of the ATP-sensitive potassium channel illuminates mechanisms of assembly and gating

(2017) Gregory M Martin et al.   eLife

Neurologic and neuroimaging manifestations of Cantú syndrome

(2016) Christopher R. Leon Guerrero et al.   NEUROLOGY

De Novo Mutation inABCC9Causes Hypertrichosis Acromegaloid Facial Features Disorder

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

KATP Channels in the Cardiovascular System

(2016) Monique N. Foster et al.   PHYSIOLOGICAL REVIEWS

KATPchannel gain-of-function leads to increased myocardial L-type Ca2+current and contractility in Cantu syndrome

(2016) Mark D. Levin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ATP Sensitive Potassium Channels in the Skeletal Muscle Function: Involvement of the KCNJ11(Kir6.2) Gene in the Determination of Mechanical Warner Bratzer Shear Force

(2016) Domenico Tricarico et al.   Frontiers in Physiology

ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target

(2015) Peter T. Nelson et al.   AGEING RESEARCH REVIEWS

Sambamba: fast processing of NGS alignment formats

(2015) Artem Tarasov et al.   BIOINFORMATICS

Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations inABCC8

(2015) Azizun Nessa et al.   HUMAN MOLECULAR GENETICS

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

Novel humanABCC9/SUR2brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging

(2015) Peter T. Nelson et al.   JOURNAL OF NEUROCHEMISTRY

Standardized phenotyping enhances Mendelian disease gene identification

(2015) Lisenka E L M Vissers et al.   NATURE GENETICS

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

(2014) Peter T. Nelson et al.   ACTA NEUROPATHOLOGICA

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

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

Efficient Mutagenesis by Cas9 Protein-Mediated Oligonucleotide Insertion and Large-Scale Assessment of Single-Guide RNAs

(2014) James A. Gagnon et al.   PLoS One

Using psychometric techniques to improve the Balance Evaluation Systems Test: the mini-BESTest

(2013) F Franchignoni et al.   JOURNAL OF REHABILITATION MEDICINE

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Validation of the Zebrafish Pentylenetetrazol Seizure Model: Locomotor versus Electrographic Responses to Antiepileptic Drugs

(2013) Tatiana Afrikanova et al.   PLoS One

Measuring the Strength of Mice

(2013) Robert M.J. Deacon   Jove-Journal of Visualized Experiments

Cantú Syndrome Is Caused by Mutations in ABCC9

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

Dominant missense mutations in ABCC9 cause Cantú syndrome

(2012) Magdalena Harakalova et al.   NATURE GENETICS

Fatty Acid Synthase Modulates Homeostatic Responses to Myocardial Stress

(2011) Babak Razani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

HMR 1098 is not an SUR isotype specific inhibitor of heterologous or sarcolemmal KATP channels

(2010) Hai Xia Zhang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

KATP Channel Subunits in Rat Dorsal Root Ganglia: Alterations by Painful Axotomy

(2010) Vasiliki Zoga et al.   Molecular Pain

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Bin Ye et al.   CIRCULATION RESEARCH

ATP-sensitive potassium currents in rat primary afferent neurons: biophysical, pharmacological properties, and alterations by painful nerve injury

(2009) T. Kawano et al.   NEUROSCIENCE