ArticleNature genetics2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Open access · hybridAbstract read
In one paragraph
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- One pocket to activate them all (?): Efforts on understanding the modulator pocket in K2P channels.Channels (Austin, Tex.) · 2026Review
- Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.Clinical genetics · 2026Article
- Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.The Journal of general physiology · 2026Article
- Structural basis for proton inhibition of the two-pore domain KStructure (London, England : 1993) · 2026Article
- Structural determinants for GPCR-mediated inhibition of TASK K2P channels by diacylglycerol and its dysfunction in disease.The EMBO journal · 2026Article
- Swapped and non-swapped TRAAK states co-exist in membranes at a ratio influenced by temperature.Nature communications · 2026Article
- DNA methyltransferase inhibition is a therapeutic vulnerability in VHL-deficient renal cell carcinoma cells.Experimental & molecular medicine · 2026Article
- K2P channels as emerging therapeutic targets for pain: insights from functional studies and transcriptomic analyses.Frontiers in pharmacology · 2026Review
- Structure of the human KNature structural & molecular biology · 2025Article
- Heterologous Expression of Recombinant Ginseng Tetradecapeptide inFoods (Basel, Switzerland) · 2025Article
- Food sensing controlsScience advances · 2025Article
- Structures of TASK-1 and TASK-3 K2P channels provide insight into their gating and dysfunction in disease.Structure (London, England : 1993) · 2025Article
- Potassium channel TASK-5 forms functional heterodimers with TASK-1 and TASK-3 to break its silence.Nature communications · 2024Article
- Development of covalent chemogenetic KCell chemical biology · 2024Article
- Structure of the human KbioRxiv : the preprint server for biology · 2024Article
- Development of covalent chemogenetic KbioRxiv : the preprint server for biology · 2023Article
- DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.Annual review of genomics and human genetics · 2023Review
- Pathophysiology and pathogenic mechanisms of pulmonary hypertension: role of membrane receptors, ion channels, and CaPhysiological reviews · 2023Review
- Interpreting the molecular mechanisms of disease variants in human transmembrane proteins.Biophysical journal · 2023Article
Corrections and comments
- Commented on by
Authors and funding
30 authors at 14 institutions in 3 countries.
Janina SörmannClarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-3288-6681
Marcus ScheweInstitute of Physiology, Faculty of Medicine, Kiel University, Kiel, Germany.ORCID http://orcid.org/0000-0002-6192-5651
Peter ProksClarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK.
Thibault Jouen-TachoireClarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-5867-994X
Shanlin RaoDepartment of Biochemistry, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-4892-5523
Elena B RielInstitute of Physiology, Faculty of Medicine, Kiel University, Kiel, Germany.ORCID http://orcid.org/0000-0003-3227-9344
Katherine E AgreMayo Clinic, Rochester, MN, USA.
Amber BegtrupGeneDx, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0002-2872-3281
John DeanDepartment of Medical Genetics, NHS Grampian, Aberdeen, UK.
Maria DescartesDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Jan FischerInstitute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.
Alice GardhamNorth West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK.
Carrie LahnerMayo Clinic, Rochester, MN, USA.
Paul R MarkSpectrum Health Medical Genetics, Grand Rapids, MI, USA.ORCID http://orcid.org/0000-0002-1020-888X
Srikanth MuppidiStanford Neurosciences Health Center, Palo Alto, CA, USA.
Pavel N PichurinMayo Clinic, Rochester, MN, USA.
Joseph PorrmannInstitute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.
Jens SchallnerDepartment of Neuropediatrics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.
Kirstin SmithDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Volker StraubInstitute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0001-9046-3540
Pradeep VasudevanUniversity Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK.
Rebecca WillaertGeneDx, Gaithersburg, MD, USA.
Elisabeth P CarpenterOXION Initiative in Ion Channels and Disease, University of Oxford, Oxford, UK.
Karin E J RödströmCentre for Medicines Discovery, University of Oxford, Oxford, UK.
Michael G HahnBayer AG, Research & Development, Pharmaceuticals, Wuppertal, Germany.
Thomas MüllerBayer AG, Research & Development, Pharmaceuticals, Wuppertal, Germany.ORCID http://orcid.org/0000-0001-9017-4781
Thomas BaukrowitzInstitute of Physiology, Faculty of Medicine, Kiel University, Kiel, Germany.
Matthew E HurlesHuman Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.ORCID http://orcid.org/0000-0002-2333-7015
Caroline F WrightInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. caroline.wright@exeter.ac.uk.ORCID http://orcid.org/0000-0003-2958-5076
Stephen J TuckerClarendon Laboratory, Department of Physics, University of Oxford, Oxford, UK. stephen.tucker@physics.ox.ac.uk.ORCID http://orcid.org/0000-0001-8996-2000
University of Oxford · GBChristian-Albrechts-Universität zu Kiel · DEKlinik und Poliklinik für Psychotherapie und Psychosomatik · DEMayo Clinic in Arizona · USBayer (Germany) · DEUniversity of Alabama at Birmingham · USLeicester Royal Infirmary · GBLondon North West Healthcare NHS Trust · GBNewcastle University · GBNHS Grampian · GBSpectrum Health · USStanford Health Care · USUniversity of Exeter · GBWellcome Sanger Institute · GB
Funding
Biotechnology and Biological Sciences Research Council BB/S008608/1Biotechnology and Biological Sciences Research Council BB/T002018/1Department of HealthMedical Research Council MR/W017741/1Wellcome TrustWellcome Trust 102161/B/13/ZWellcome Trust WT084655MAWellcome Trust WT098051
Abstract
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K
Indexed as
Gain of Function MutationSleep Apnea SyndromesChildDevelopmental DisabilitiesHumansMutationNerve Tissue ProteinsPotassium Channels, Tandem Pore DomainNerve Tissue ProteinsPotassium Channels, Tandem Pore Domainpotassium channel subfamily K member 3
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.