ArticleHuman molecular genetics2014
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
What it found
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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
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Association Between Rs3807989 Polymorphism in Caveolin-1 (CAV1) Gene and Atrial Fibrillation: A Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2016Pooled it
- Ion Channel-Targeting Modulators in Glioma: Pharmacological Advances and Therapeutic Perspectives.International journal of molecular sciences · 2026Review
- A Novel KCNJ2 p.Glu299Ala Variant Associated with Short QT Phenotype and Persistent Atrial Fibrillation in a Child.Life (Basel, Switzerland) · 2026Article
- Biologically grounded on-chip model identifies selective topographic reorganization within hyperexcitable corticostriatal networks.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Mapping the knowledge of epilepsy and Potassium Channels: A scientometric analysis in CiteSpace and VOSviewer.IBRO neuroscience reports · 2025Article
- Characterization of Next-Generation Inhibitors for the Inward-Rectifier Potassium Channel KACS medicinal chemistry letters · 2025Article
- The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.Journal of personalized medicine · 2025Review
- Editorial: Pathogenic potassium channel variants in neurological disorders: from functional analysis to personalized pharmacological approaches.Frontiers in cellular neuroscience · 2025Article
- Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of theInternational journal of molecular sciences · 2024Article
- Interpreting the actionable clinical role of rare variants associated with short QT syndrome.Human genetics · 2024Article
- The network of cardiac KNaunyn-Schmiedeberg's archives of pharmacology · 2024Review
- Assessment of Biochemical and Neuroactivities of Cultural Filtrate fromLife (Basel, Switzerland) · 2023Article
- Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- Developmental pyrethroid exposure causes a neurodevelopmental disorder phenotype in mice.PNAS nexus · 2023Article
- Gene Polymorphism and Recurrent Atrial Fibrillation after Catheter Ablation: A Comprehensive Review.Reviews in cardiovascular medicine · 2023Review
- Neuron-specific transcriptomic signatures indicate neuroinflammation and altered neuronal activity in ASD temporal cortex.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Gene mutations in comorbidity of epilepsy and arrhythmia.Journal of neurology · 2023Review
- Inward rectifier potassium (Kir) channels in the retina: living our vision.American journal of physiology. Cell physiology · 2022Review
- Next-generation inward rectifier potassium channel modulators: discovery and molecular pharmacology.American journal of physiology. Cell physiology · 2021Review
- Genetic variants associated with atrial fibrillationand long-term recurrence after catheter ablation for atrialfibrillation in Turkish patients.Anatolian journal of cardiology · 2021Article
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 2 countries.
Funding
Abstract
Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3S, remain incompletely understood. Here, we report on monozygotic twins displaying a short QT interval on electrocardiogram recordings and autism-epilepsy phenotype. Genetic screening identified a novel KCNJ2 variant in Kir2.1 that (i) enhanced the channel's surface expression and stability at the plasma membrane, (ii) reduced protein ubiquitylation and degradation, (iii) altered protein compartmentalization in lipid rafts by targeting more channels to cholesterol-poor domains and (iv) reduced interactions with caveolin 2. Importantly, our study reveals novel physiological mechanisms concerning wild-type Kir2.1 channel processing by the cell, such as binding to both caveolin 1 and 2, protein degradation through the ubiquitin-proteasome pathway; in addition, it uncovers a potential multifunctional site that controls Kir2.1 surface expression, protein half-life and partitioning to lipid rafts. The reported mechanisms emerge as crucial also for proper astrocyte function, suggesting the need for a neuropsychiatric evaluation in patients with SQT3S and offering new opportunities for disease management.
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Registered trials
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 Socratic graph.