ArticleEpigenetics
Hypermethylation of PI3K-AKT signalling pathway genes is associated with human neural tube defects.
Article in Epigenetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Prenatal Cerium Exposure and Neural Tube Defect Risk: A Case-control Study in Shanxi, China.Biological trace element research · 2026Article
- Effects of Nimodipine on Neural Tube Development in Early Chick Embryos.Birth defects research · 2026Article
- Multi-tissue DNA methylation analysis to identify an appropriate surrogate tissue for a unique neurological tissue specific to spina bifida.Clinical epigenetics · 2026Article
- Neural tube defects induce abnormal astrocyte development by activation and epigenetic permissiveness of STAT3.Experimental neurology · 2025Article
- The role of prickle proteins in vertebrate development and pathology.Molecular and cellular biochemistry · 2024Review
- Multiplexing of TMT labeling reveals folate-deficient diet-specific proteome changes in NTDs.Frontiers in cell and developmental biology · 2024Article
- Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?International journal of molecular sciences · 2023Review
- Effect of integrin α7 on cell proliferation, invasion, apoptosis and the PI3K/AKT pathway, and its association with clinicopathological features in endometrial cancer.Oncology letters · 2023Article
- Unraveling the Mechanisms of Clinical Drugs-Induced Neural Tube Defects Based on Network Pharmacology and Molecular Docking Analysis.Neurochemical research · 2022Article
- Genetic Markers of Spina Bifida in an Indian Cohort.Journal of Indian Association of Pediatric SurgeonsArticle
Corrections and comments
- Erratum issuedCorrection.2024
Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
Neural tube defects (NTDs) are a group of common and severe congenital malformations. The PI3K-AKT signalling pathway plays a crucial role in the neural tube development. There is limited evidence concerning any possible association between aberrant methylation in PI3K-AKT signalling pathway genes and NTDs. Therefore, we aimed to investigate potential associations between aberrant methylation of PI3K-AKT pathway genes and NTDs. Methylation studies of PI3K-AKT pathway genes utilizing microarray genome-methylation data derived from neural tissues of ten NTD cases and eight non-malformed controls were performed. Targeted DNA methylation analysis was subsequently performed in an independent cohort of 73 NTD cases and 32 controls to validate the methylation levels of identified genes. siRNAs were used to pull-down the target genes in human embryonic stem cells (hESCs) to examine the effects of the aberrant expression of target genes on neural cells. As a result, 321 differentially hypermethylated CpG sites in the promoter regions of 30 PI3K-AKT pathway genes were identified in the microarray data. In target methylation analysis,
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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.