ReviewFrontiers in molecular neuroscience2021
Structural and Functional Aspects of the Neurodevelopmental Gene
Review in Frontiers in molecular neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Review
- Prenatal valproic acid exposure alters striatal proteomic signatures associated with autism spectrum disorder in mice.Translational psychiatry · 2026Article
- Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature.Clinical case reports · 2026Article
- Gene regulatory network transitions reveal the central transcription factors in lung adenocarcinoma progression.NPJ systems biology and applications · 2026Article
- Systematic genomic Mendelian randomization profiling of early molecular markers of optic atrophy.International journal of ophthalmology · 2026Article
- Language and Cognitive Features in a Girl with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Pediatric reports · 2025Article
- Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.Disease models & mechanisms · 2025Article
- Mutation of CHD7 impairs the output of neuroepithelium transition that is reversed by the inhibition of EZH2.Molecular psychiatry · 2025Article
- The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Clinical genetics · 2025Article
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- Conserved DNA methylation signatures in the prefrontal cortex of female newborn and juvenile guinea pigs following antenatal betamethasone exposure.Journal of neuroendocrinology · 2025Article
- A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.Hereditas · 2025Article
- Metastatic organotropism in small cell lung cancer.bioRxiv : the preprint server for biology · 2025Article
- ChromBPNet: bias factorized, base-resolution deep learning models of chromatin accessibility reveal cis-regulatory sequence syntax, transcription factor footprints and regulatory variants.bioRxiv : the preprint server for biology · 2025Article
- Correlation between benign prostatic hyperplasia and comorbidities: a systematic analysis integrating global burden of disease and mendelian randomization study.Journal of translational medicine · 2024Article
- Article
- NR2F1 overexpression alleviates trophoblast cell dysfunction by inhibiting GDF15/MAPK axis in preeclampsia.Human cell · 2024Article
- Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity.Nature communications · 2024Article
- Comparative gene regulatory networks modulatingmedRxiv : the preprint server for health sciences · 2024Article
- Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.Protein science : a publication of the Protein Society · 2024Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The assembly and maturation of the mammalian brain result from an intricate cascade of highly coordinated developmental events, such as cell proliferation, migration, and differentiation. Any impairment of this delicate multi-factorial process can lead to complex neurodevelopmental diseases, sharing common pathogenic mechanisms and molecular pathways resulting in multiple clinical signs. A recently described monogenic neurodevelopmental syndrome named Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is caused by
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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.