ArticleGenome biology2007
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease.
Article in Genome biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks.Epilepsia · 2026Article
- Alternative Splicing in Mechanically Stretched Podocytes as a Model of Glomerular Hypertension.Journal of the American Society of Nephrology : JASN · 2025Article
- Identification of common core ion channel genes in epilepsy and Alzheimer's disease.Irish journal of medical science · 2024Review
- A reliable and quick method for screening alternative splicing variants for low-abundance genes.PloS one · 2024Article
- A beginner's guide into curated analyses of open access datasets for biomarker discovery in neurodegeneration.Scientific data · 2023Article
- Identification of a Novel Idiopathic Epilepsy Risk Locus and a Variant in theAnimals : an open access journal from MDPI · 2023Article
- Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins.Molecular neurodegeneration · 2023Article
- Biophysical KeLife · 2022Article
- Mechanisms Involved in Epileptogenesis in Alzheimer's Disease and Their Therapeutic Implications.International journal of molecular sciences · 2022Review
- Revelation of Pivotal Genes Pertinent to Alzheimer's Pathogenesis: A Methodical Evaluation of 32 GEO Datasets.Journal of molecular neuroscience : MN · 2022Article
- Expression of Circ_Satb1 Is Decreased in Mesial Temporal Lobe Epilepsy and Regulates Dendritic Spine Morphology.Frontiers in molecular neuroscience · 2022Article
- Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?Frontiers in psychiatry · 2021Article
- Alternative splicing isoforms in health and disease.Pflugers Archiv : European journal of physiology · 2018Review
- Alternative splicing: the pledge, the turn, and the prestige : The key role of alternative splicing in human biological systems.Human genetics · 2017Review
- Elevated Expression of the Delta-Subunit of Epithelial Sodium Channel in Temporal Lobe Epilepsy Patients and Rat Model.Journal of molecular neuroscience : MN · 2015Article
- Incorporating alternative splicing and mRNA editing into the genetic analysis of complex traits.BioEssays : news and reviews in molecular, cellular and developmental biology · 2014Article
- δ ENaC: a novel divergent amiloride-inhibitable sodium channel.American journal of physiology. Lung cellular and molecular physiology · 2012Review
- Activity-dependent alternative splicing increases persistent sodium current and promotes seizure.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- Analysis of alternative splicing associated with aging and neurodegeneration in the human brain.Genome research · 2011Article
- High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.BMC genetics · 2009Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundAlternative gene transcript splicing permits a single gene to produce multiple proteins with varied functions. Bioinformatic investigations have identified numerous splice variants, but whether these transcripts are translated to functional proteins and the physiological significance of these alternative proteins are largely unknown. Through direct identification of splice variants associated with disease states, we can begin to address these questions and to elucidate their roles in disease predisposition and pathophysiology. This work specifically sought to identify disease-associated alternative splicing patterns in ion channel genes by comprehensively screening affected brain tissue collected from patients with mesial temporal lobe epilepsy and Alzheimer's disease. New technology permitting the screening of alternative splice variants in microarray format was employed. Real time quantitative PCR was used to verify observed splice variant patterns.
resultsThis work shows for the first time that two common neurological conditions are associated with extensive changes in gene splicing, with 25% and 12% of the genes considered having significant changes in splicing patterns associated with mesial temporal lobe epilepsy and Alzheimer's disease, respectively. Furthermore, these changes were found to exhibit unique and consistent patterns within the disease groups.
conclusionThis work has identified a set of disease-associated, alternatively spliced gene products that represent high priorities for detailed functional investigations into how these changes impact the pathophysiology of mesial temporal lobe epilepsy and Alzheimer's disease.
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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 OpenQuestion graph.