ReviewGenes & diseases2024
The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development.
Review in Genes & diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Review
- Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.American journal of human genetics · 2026Article
- Paeoniflorin alleviates spinal cord injury in a cell model via regulating PTEN and PI3K/AKT signaling.Open life sciences · 2026Article
- Remimazolam impairs bone marrow mesenchymal stem cell function and attenuates the tumor-promoting ability.American journal of translational research · 2026Article
- ROCK inhibition promotes axon and myelin regeneration via PI3K/Akt/GSK3β in a mouse sciatic nerve injury model.International journal of molecular medicine · 2026Article
- Decoding osteosarcoma from heterogeneity to precision therapy.Discover oncology · 2025Review
- Article
- RNA Interference and Its Key Targets for Spinal Cord Injury Therapy: What Is Known So Far?International journal of molecular sciences · 2025Review
- Review
- Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.Genes · 2025Article
- Article
- Targeting natural antioxidant polyphenols to protect neuroinflammation and neurodegenerative diseases: a comprehensive review.Frontiers in pharmacology · 2025Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Malformations of cortical development (MCD) are a group of developmental disorders characterized by abnormal cortical structures caused by genetic or harmful environmental factors. Many kinds of MCD are caused by genetic variation. MCD is the common cause of intellectual disability and intractable epilepsy. With rapid advances in imaging and sequencing technologies, the diagnostic rate of MCD has been increasing, and many potential genes causing MCD have been successively identified. However, the high genetic heterogeneity of MCD makes it challenging to understand the molecular pathogenesis of MCD and to identify effective targeted drugs. Thus, in this review, we outline important events of cortical development. Then we illustrate the progress of molecular genetic studies about MCD focusing on the PI3K/PTEN/AKT/mTOR pathway. Finally, we briefly discuss the diagnostic methods, disease models, and therapeutic strategies for MCD. The information will facilitate further research on MCD. Understanding the role of the PI3K/PTEN/AKT/mTOR pathway in MCD could lead to a novel strategy for treating MCD-related diseases.
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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.