Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.03.022
Abstract: We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten… read more here.
Keywords: human neurons; actl6b cause; loss; allelic mutations ... See more keywords
BAF Complex Maintains Glioma Stem Cells in Pediatric H3K27M Glioma
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DOI: 10.1158/2159-8290.cd-21-1491
Abstract: The BAF complex, in particular ATPase subunit SMARCA4/BRG1, is critical for maintaining pediatric H3K27M-glioma cells in an oncogenic progenitor state, and pharmacologic inhibition is a potential therapeutic avenue for these highly aggressive tumors. read more here.
Keywords: h3k27m glioma; pediatric h3k27m; baf complex;
BAF (mSWI/SNF) complex regulates mediolateral cortical patterning in the developing forebrain
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.1011109
Abstract: Early forebrain patterning entails the correct regional designation of the neuroepithelium, and appropriate specification, generation, and distribution of neural cells during brain development. Specific signaling and transcription factors are known to tightly regulate patterning of… read more here.
Keywords: cortical patterning; complex regulates; baf; baf complex ... See more keywords
Language Impairments in Individuals With Coffin-Siris Syndrome
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DOI: 10.3389/fnins.2021.802583
Abstract: Coffin-Siris syndrome (CSS, MIM 135900) is a now well-described, multiple congenital anomaly/intellectual disability syndrome classically characterized by fifth digit/nail hypoplasia, coarse facial features, and a range of organ-system related anomalies. Since its initial description in… read more here.
Keywords: siris syndrome; css; baf complex; coffin siris ... See more keywords
Loss of BAF Complex in Developing Cortex Perturbs Radial Neuronal Migration in a WNT Signaling-Dependent Manner
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2021.687581
Abstract: Radial neuronal migration is a key neurodevelopmental event indispensable for proper cortical laminar organization. Cortical neurons mainly use glial fiber guides, cell adhesion dynamics, and cytoskeletal remodeling, among other discrete processes, to radially trek from… read more here.
Keywords: wnt signaling; cortex; migration; neuronal migration ... See more keywords
Role of brahma-related gene 1/brahma-associated factor subunits in neural stem/progenitor cells and related neural developmental disorders
Sign Up to like & getrecommendations! Published in 2023 at "World Journal of Stem Cells"
DOI: 10.4252/wjsc.v15.i4.235
Abstract: Different fates of neural stem/progenitor cells (NSPCs) and their progeny are determined by the gene regulatory network, where a chromatin-remodeling complex affects synergy with other regulators. Here, we review recent research progress indicating that the… read more here.
Keywords: role; neural stem; stem progenitor; baf complex ... See more keywords