ArticleNature communications2019
Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 35 citations in OpenAlex.
- Self-Organized Vascularized Human Liver Spheroids: Serum-Free Culture Conditions and Use as Tissue Building Blocks.Small (Weinheim an der Bergstrasse, Germany) · 2026Article
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.Acta neuropathologica communications · 2026Article
- Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.Epilepsy & behavior reports · 2025Article
- Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.Cancer genetics · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- High-throughput screening of human genetic variants by pooled prime editing.Cell genomics · 2025Article
- A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.Acta biochimica et biophysica Sinica · 2024Article
- Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.Human genetics · 2024Article
- Enrichment of FGF8-expressing cells from neurally induced human pluripotent stem cell cultures.Stem cell reports · 2023Article
- A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.Cellular and molecular neurobiology · 2023Article
- Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish.Disease models & mechanisms · 2023Article
- Role of brahma-related gene 1/brahma-associated factor subunits in neural stem/progenitor cells and related neural developmental disorders.World journal of stem cells · 2023Review
- Structural and functional properties of mSWI/SNF chromatin remodeling complexes revealed through single-cell perturbation screens.Molecular cell · 2023Article
- Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.Genes & genomics · 2022Article
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.European journal of medical genetics · 2022Article
- Rare Hereditary Gynecological Cancer Syndromes.International journal of molecular sciences · 2022Review
- Genetic testing in individuals with cerebral palsy.Developmental medicine and child neurology · 2021Article
- Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.Journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.
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