ArticleeLife2023
Gain-of-function variants in the ion channel gene
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In one paragraph
Article in eLife, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
7.1field-weighted citation impact, top 2% 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.
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Who cites it
25 citing papers in PubMed, 36 citations in OpenAlex.
- Stereoselectivity and functional plasticity of a common ligand-binding pocket in TRPM3.Nature communications · 2026Article
- TRPM3 mediates spontaneous pain and mechanical allodynia in a mouse model of chronic orofacial neuropathy.Cell reports. Medicine · 2026Article
- A duo of redox-sensitive pore-loop cysteines controls the activity of the neural ion channel TRPM3.Communications chemistry · 2026Article
- Modulation of Cognitive Function by TRPM3 Channels in the Dentate Gyrus of a Menopausal Rat Model: Effects of Naringenin Treatment and Ciliary Neurotrophic Factor.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2026Article
- Structural basis for agonist and heat activation of nociceptor TRPM3.Nature structural & molecular biology · 2026Article
- A case of delayed acute intestinal pseudo-obstruction after MELAS crisis in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.Frontiers in medicine · 2026Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- Copine-6 is a TRPM3 escort protein controlling the sensitivity of sensory neurons to noxious heat.The EMBO journal · 2025Article
- Muscarinic Receptor Antagonism and TRPM3 Activation as Stimulators of Mitochondrial Function and Axonal Repair in Diabetic Sensorimotor Polyneuropathy.International journal of molecular sciences · 2025Review
- Nuclear paraspeckle assembly transcript 1 promotes photophobia behavior in mice via miR-196a-5p/Trpm3 coupling.The journal of headache and pain · 2025Article
- Molecular basis of neurosteroid and anticonvulsant regulation of TRPM3.Nature structural & molecular biology · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Phenotype Spectrum of TRPM3-Associated Disorders.Annals of neurology · 2025Article
- Incidence of hip problems in developmental central hypotonia: A scoping review.Developmental medicine and child neurology · 2025Article
- Thermo-TRP regulation by endogenous factors and its physiological function at core body temperature.Physiological reports · 2025Review
- Potential pathophysiological role of the ion channel TRPM3 in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and the therapeutic effect of low-dose naltrexone.Journal of translational medicine · 2024Review
- TRPM channels in health and disease.Nature reviews. Nephrology · 2024Review
- A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.Cells · 2024Article
- The odyssey of the TR(i)P journey to the cellular membrane.Frontiers in cell and developmental biology · 2024Review
- Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.Frontiers in pediatrics · 2024Article
Corrections and comments
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Authors and funding
32 authors at 15 institutions in 10 countries.
Lydie Burglen *Centre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
Evelien Van Hoeymissen *Laboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.ORCID 0000-0003-3897-8998
Leila QebiboCentre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
Magalie BarthDepartment of Genetics, University Hospital of Angers, Angers, France.
Newell BelnapTranslational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States.
Felix BoschannCharité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Katrien De ClercqLaboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
Andrew G L DouglasUniversity Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Mark P FitzgeraldChildren's Hospital of Philadelphia, Philadelphia, United States.
Nicola FouldsWessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Catherine GarelCentre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
Ingo HelbigChildren's Hospital of Philadelphia, Philadelphia, United States.
Katharina HeldLaboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
Denise HornCharité - Universitäts medizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.ORCID 0000-0003-0870-8911
Annelies JanssenLaboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.ORCID 0000-0002-6735-8248
Angela M KaindlInstitute of Cell Biology and Neurobiology, Charité - Universitäts medizin Berlin, Berlin, Germany.ORCID 0000-0001-9454-206X
Vinodh NarayananTranslational Genomics Research Institute (TGen), Neurogenomics Division, Center for Rare Childhood Disorders, Phoenix, United States.ORCID 0000-0002-0658-3847
Christina PragerDepartment of Pediatric Neurology, Charité - Universitäts medizin Berlin, Berlin, Germany.
Mailys Rupin-MasDepartment of Neuropediatrics, University Hospital of Angers, Angers, France.
Alexandra AfenjarCentre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
Siyuan ZhaoDepartment of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey, Newark, United States.ORCID 0000-0003-2005-9440
Vincent Th RamaekersDivision Neuropediatrics, University Hospital Liège, Liège, Belgium.
Sarah M RuggieroChildren's Hospital of Philadelphia, Philadelphia, United States.
Simon ThomasWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.
Stéphanie ValenceCentre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
Lionel Van MaldergemCentre de Génétique Humaine, Université de Franche-Comté Besançon, Besancon, France.
Tibor RohacsDepartment of Pharmacology, Physiology and Neuroscience, Rutgers, The State University of New Jersey, Newark, United States.ORCID 0000-0003-3580-2575
Diana RodriguezCentre de référence des malformations et maladies congénitales du cervelet, Départementde Génétique, APHP, Sorbonne University, Paris, France.
David DymentChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Thomas VoetsLaboratory of Ion Channel Research, Department of cellular and molecular medicine, University of Leuven, Leuven, Belgium.
Joris VriensLaboratory of Endometrium, Endometriosis & Reproductive Medicine, Department Development & Regeneration, University of Leuven, Leuven, Belgium.ORCID 0000-0002-2502-0409
Sorbonne Université · FREndometriosis · GBChildren's Hospital of Philadelphia · USHumboldt-Universität zu Berlin · DEInserm · FRRutgers, The State University of New Jersey · USTranslational Genomics Research Institute · USUniversité d'Angers · FRUniversity Hospital Southampton NHS Foundation Trust · GBVIB-KU Leuven Center for Brain & Disease Research · BECharité - Universitätsmedizin Berlin · DEInstitute of Cell Biology and Neurobiology · ITInstitute of Human Genetics · PLSalisbury District Hospital · GBUniversity of Ottawa · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in
Indexed as
EpilepsyNeurodevelopmental DisordersNeurosteroidsTRPM Cation ChannelsAnimalsGain of Function MutationHumansIon ChannelsMammalsIon ChannelsNeurosteroidsTRPM3 protein, humanTRPM Cation Channelscell biologycerebellar atrophyepilepsygain-of-functionhumanintellectual disabilityneurodevelopmentneuroscienceTRPM3
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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.