Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
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Elena B. Riel | M. Hurles | E. Carpenter | C. Wright | T. Baukrowitz | S. Tucker | P. Vasudevan | K. Rödström | A. Gardham | A. Begtrup | R. Willaert | P. Proks | P. Mark | M. Descartes | P. Pichurin | Shanlin Rao | J. Schallner | S. Muppidi | K. Agre | Carrie A Lahner | Michael G. Hahn | Marcus Schewe | J. Porrmann | J. Dean | Volker Straub | J. Sörmann | Thibault Jouen-Tachoire | Jan Fischer | Kirstin Smith | Volker Straub | T. Müller | Amber Begtrup | Katherine E. Agre | Thomas Müller
[1] Elena B. Riel,et al. The versatile regulation of K2P channels by polyanionic lipids of the phosphoinositide and fatty acid metabolism , 2021, The Journal of general physiology.
[2] L. Kheirandish-Gozal,et al. Pediatric Sleep Apnea: The Overnight Electroencephalogram as a Phenotypic Biomarker , 2021, Frontiers in Neuroscience.
[3] W. González,et al. Molecular Pharmacology of K2P Potassium Channels. , 2021, Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology.
[4] Wojciech Kopec,et al. Structural Basis for Gating of the Two-Pore Domain K+ (K2P) Channels TASK-1 and TALK-2 , 2021 .
[5] B. Lowell,et al. A brainstem peptide system activated at birth protects postnatal breathing , 2020, Nature.
[6] Patrick J. Short,et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data , 2020, Nature.
[7] R. Horner,et al. Modulation of TASK-1/3 channels at the hypoglossal motoneuron pool and effects on tongue motor output and responses to excitatory inputs in vivo: implications for strategies for obstructive sleep apnea pharmacotherapy , 2020, Sleep.
[8] M. Inoue,et al. TASK channels: channelopathies, trafficking, and receptor-mediated inhibition , 2020, Pflügers Archiv - European Journal of Physiology.
[9] A. Pack,et al. Global burden of sleep-disordered breathing and its implications. , 2020, Respirology.
[10] A. Zahradníková,et al. The problem of accuracy in single-channel open probability measurements. , 2020, Progress in biophysics and molecular biology.
[11] E. Carpenter,et al. A lower X-gate in TASK channels traps inhibitors within the vestibule , 2020, Nature.
[12] Melissa J. Landrum,et al. ClinVar: improvements to accessing data , 2019, Nucleic Acids Res..
[13] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[14] Jian Kang,et al. Transient upregulation of TASK‐1 expression in the hypoglossal nucleus during chronic intermittent hypoxia is reduced by serotonin 2A receptor antagonist , 2019, Journal of cellular physiology.
[15] Sanjay R. Patel,et al. Estimation of the global prevalence and burden of obstructive sleep apnoea: a literature-based analysis. , 2019, The Lancet. Respiratory medicine.
[16] M. Gendrel,et al. Mutation of a single residue promotes gating of vertebrate and invertebrate two-pore domain potassium channels , 2019, Nature Communications.
[17] B. L. de Groot,et al. A pharmacological master key mechanism that unlocks the selectivity filter gate in K+ channels , 2019, Science.
[18] M. Sansom,et al. CHAP: A Versatile Tool for the Structural and Functional Annotation of Ion Channel Pores , 2019, bioRxiv.
[19] Kevin P. Cunningham,et al. Characterization and regulation of wild‐type and mutant TASK‐1 two pore domain potassium channels indicated in pulmonary arterial hypertension , 2018, The Journal of physiology.
[20] D. Fitzpatrick,et al. NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea , 2018, Pediatrics.
[21] Yotesawee Srisomboon,et al. P2Y receptor regulation of K2P channels that facilitate K+ secretion by human mammary epithelial cells. , 2018, American journal of physiology. Cell physiology.
[22] M. Humbert,et al. TASK-1 (KCNK3) channels in the lung: from cell biology to clinical implications , 2017, European Respiratory Journal.
[23] W. Chung,et al. The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery , 2017, Journal of the American Heart Association.
[24] Joseph F. Cotten,et al. Halogenated Ether, Alcohol, and Alkane Anesthetics Activate TASK-3 Tandem Pore Potassium Channels Likely through a Common Mechanism , 2017, Molecular Pharmacology.
[25] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[26] W. González,et al. Gating, Regulation, and Structure in K2P K+ Channels: In Varietate Concordia? , 2016, Molecular Pharmacology.
[27] W. Chung,et al. Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.
[28] F. Cunningham,et al. The Ensembl Variant Effect Predictor , 2016, Genome Biology.
[29] B. L. de Groot,et al. A Non-canonical Voltage-Sensing Mechanism Controls Gating in K2P K+ Channels , 2016, Cell.
[30] A. Rump,et al. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt , 2016, Journal of Medical Genetics.
[31] Neural control of breathing and CO2 homeostasis , 2015, Autonomic Neuroscience.
[32] D. Bayliss,et al. Neural Control of Breathing and CO2 Homeostasis , 2015, Neuron.
[33] M. Borggrefe,et al. Upregulation of K2P3.1 K+ Current Causes Action Potential Shortening in Patients With Chronic Atrial Fibrillation , 2015, Circulation.
[34] Alejandro Sifrim,et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.
[35] Olle Nerman,et al. Sleep apnea-related risk of motor vehicle accidents is reduced by continuous positive airway pressure: Swedish Traffic Accident Registry data. , 2015, Sleep.
[36] K. Buckler. TASK channels in arterial chemoreceptors and their role in oxygen and acid sensing , 2015, Pflügers Archiv - European Journal of Physiology.
[37] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[38] J. Teulon,et al. Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels. , 2015, Physiological reviews.
[39] W. González,et al. Kv1.5 blockers preferentially inhibit TASK-1 channels: TASK-1 as a target against atrial fibrillation and obstructive sleep apnea? , 2014, Pflügers Archiv - European Journal of Physiology.
[40] N. Franks,et al. The role of K2P channels in anaesthesia and sleep , 2014, Pflügers Archiv - European Journal of Physiology.
[41] M. Bünemann,et al. Diacylglycerol mediates regulation of TASK potassium channels by Gq-coupled receptors , 2014, Nature Communications.
[42] M. Sateia,et al. International classification of sleep disorders-third edition: highlights and modifications. , 2014, Chest.
[43] H. Pape,et al. The role of two-pore-domain background K+ (K2P) channels in the thalamus , 2014, Pflügers Archiv - European Journal of Physiology.
[44] M. Sansom,et al. A hydrophobic barrier deep within the inner pore of the TWIK-1 K2P potassium channel , 2014, Nature Communications.
[45] B. Selim,et al. Central Sleep Apnea: The Complex Sleep Apnea Syndrome (CompSAS) , 2014 .
[46] Arthur Wuster,et al. DeNovoGear: de novo indel and point mutation discovery and phasing , 2013, Nature Methods.
[47] D. Hillman. A new pharmacological treatment to treat obstructive sleep apnea? , 2013, Sleep.
[48] H. Ruetten,et al. Sensitization of upper airway mechanoreceptors as a new pharmacologic principle to treat obstructive sleep apnea: investigations with AVE0118 in anesthetized pigs. , 2013, Sleep.
[49] Joseph F. Cotten,et al. TASK-1 (KCNK3) and TASK-3 (KCNK9) Tandem Pore Potassium Channel Antagonists Stimulate Breathing in Isoflurane-Anesthetized Rats , 2013, Anesthesia and analgesia.
[50] Helga Thorvaldsdóttir,et al. Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration , 2012, Briefings Bioinform..
[51] W. Chung,et al. A novel channelopathy in pulmonary arterial hypertension. , 2013, The New England journal of medicine.
[52] Julie H. Simpson,et al. Genetic Manipulation of Genes and Cells in the Nervous System of the Fruit Fly , 2011, Neuron.
[53] Markus Rapedius,et al. The pore structure and gating mechanism of K2P channels , 2011, The EMBO journal.
[54] R. Peyronnet,et al. Multiple modalities converge on a common gate to control K2P channel function , 2011, The EMBO journal.
[55] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[56] Péter Enyedi,et al. Molecular Background of Leak K (cid:1) Currents: Two-Pore Domain Potassium Channels , 2010 .
[57] J. Dempsey,et al. Pathophysiology of sleep apnea. , 2010, Physiological reviews.
[58] M. Sutcliffe,et al. The response of the tandem pore potassium channel TASK-3 (K2P9.1) to voltage: gating at the cytoplasmic mouth , 2009, The Journal of physiology.
[59] A. Gourine,et al. A Role for TASK-1 (KCNK3) Channels in the Chemosensory Control of Breathing , 2008, The Journal of Neuroscience.
[60] R. Ofir,et al. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. , 2008, American journal of human genetics.
[61] C. Zhang,et al. Expression of TASK-1 in brainstem and the occurrence of central sleep apnea in rats , 2008, Respiratory Physiology & Neurobiology.
[62] W. Wisden,et al. Changes in expression of some two-pore domain potassium channel genes (KCNK) in selected brain regions of developing mice , 2008, Neuroscience.
[63] A. Mathie. Neuronal two‐pore‐domain potassium channels and their regulation by G protein‐coupled receptors , 2007, The Journal of physiology.
[64] D. Bayliss,et al. Motoneurons Express Heteromeric TWIK-Related Acid-Sensitive K+ (TASK) Channels Containing TASK-1 (KCNK3) and TASK-3 (KCNK9) Subunits , 2004, The Journal of Neuroscience.
[65] D. Bayliss,et al. Functional expression of TASK‐1/TASK‐3 heteromers in cerebellar granule cells , 2004, The Journal of physiology.
[66] D. Bayliss,et al. Modulation of TASK-1 (Kcnk3) and TASK-3 (Kcnk9) Potassium Channels , 2002, The Journal of Biological Chemistry.
[67] G. Czirják,et al. Inhibition of TASK-1 potassium channel by phospholipase C. , 2001, American journal of physiology. Cell physiology.
[68] M. Lazdunski,et al. The endocannabinoid anandamide is a direct and selective blocker of the background K+ channel TASK‐1 , 2001, The EMBO journal.
[69] Edmund M Talley,et al. TASK-1, a Two–Pore Domain K+ Channel, Is Modulated by Multiple Neurotransmitters in Motoneurons , 2000, Neuron.
[70] Donghee Kim,et al. TBAK-1 and TASK-1, two-pore K+ channel subunits: kinetic properties and expression in rat heart. , 1999, American journal of physiology. Heart and circulatory physiology.
[71] A G Hawkes,et al. Stochastic properties of ion channel openings and bursts in a membrane patch that contains two channels: evidence concerning the number of channels present when a record containing only single openings is observed , 1990, Proceedings of the Royal Society of London. B. Biological Sciences.