ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
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Title
ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Authors
Keywords
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Journal
Nature Communications
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-10-01
DOI
10.1038/s41467-019-12428-7
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Note: Only part of the references are listed.- 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
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