ArticleDevelopmental neurobiology2014
A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice.
Article in Developmental neurobiology, 2014. 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, 38 citations in OpenAlex.
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- Molecular hallmarks of hydrocephalus.Science translational medicine · 2025Review
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
- A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.Brain : a journal of neurology · 2024Article
- The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- A neural stem cell paradigm of pediatric hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- [A review on the genetic mechanism of chromatin remodeling in children with neurodevelopmental disorders].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Review
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Nature medicine · 2020Article
- Unlocking the genetic complexity of congenital hydrocephalus.Nature medicine · 2020Article
- A Coil-to-Helix Transition Serves as a Binding Motif for hSNF5 and BAF155 Interaction.International journal of molecular sciences · 2020Article
- Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.The Journal of clinical investigation · 2020Article
- RBM15 Modulates the Function of Chromatin Remodeling Factor BAF155 Through RNA Methylation in Developing Cortex.Molecular neurobiology · 2019Article
- The developmental-genetics of canalization.Seminars in cell & developmental biology · 2019Review
- The True Story ofFrontiers in physiology · 2019Review
- Single-cell RNA-seq reveals dynamic transcriptome profiling in human early neural differentiation.GigaScience · 2018Article
- De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.Neuron · 2018Article
- A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.American journal of medical genetics. Part A · 2017Article
- Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.PLoS genetics · 2017Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Failure of embryonic neural tube closure results in the second most common class of birth defects known as neural tube defects (NTDs). While NTDs are likely the result of complex multigenic dysfunction, it is not known whether polymorphisms in epigenetic regulators may be risk factors for NTDs. Here we characterized Baf155(msp3) , a unique ENU-induced allele in mice. Homozygous Baf155(mps3) embryos exhibit highly penetrant exencephaly, allowing us to investigate the roles of an assembled, but malfunctional BAF chromatin remodeling complex in vivo at the time of neural tube closure. Evidence of defects in proliferation and apoptosis were found within the neural tube. RNA-Seq analysis revealed that surprisingly few genes showed altered expression in Baf155 mutant neural tissue, given the broad epigenetic role of the BAF complex, but included genes involved in neural development and cell survival. Moreover, gene expression changes between individual mutants were variable even though the NTD was consistently observed. This suggests that inconsistent gene regulation contributes to failed neural tube closure. These results shed light on the role of the BAF complex in the process of neural tube closure and highlight the importance of studying missense alleles to understand epigenetic regulation during critical phases of development.
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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.