From neural development to cognition: unexpected roles for chromatin
TLDR
Interestingly, mutations in EZH2 and certain BAF complex components have roles in both neurodevelopmental disorders and cancer, and overlapping point mutations are suggesting functionally important residues and domains.Abstract:
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease.read more
Citations
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Journal ArticleDOI
SWI/SNF complexes are required for full activation of the DNA-damage response
Stephanie L. Smith-Roe,Jun Nakamura,Darcy Holley,Paul D. Chastain,Gary B. Rosson,Dennis A. Simpson,John R. Ridpath,David G. Kaufman,William K. Kaufmann,Scott J. Bultman +9 more
TL;DR: The results suggest that SWI/SNF tumor-suppressor activity involves a role in the DNA-damage response (DDR) to attenuate replicative stress and genomic instability.
Journal ArticleDOI
Deficiency of the chromatin regulator BRPF1 causes abnormal brain development.
TL;DR: It is reported that forebrain-specific inactivation of the mouse Brpf1 gene caused early postnatal lethality, neocortical abnormalities, and partial callosal agenesis and it is suggested that it acts as both an activator and a silencer of gene expression in vivo.
Journal ArticleDOI
SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease
TL;DR: The clinical relevance of SWI/SNF mutations has traditionally been focused primarily on their role in tumor suppression, but recent studies illustrate their critical role in the heart whereby they regulate cell proliferation, differentiation, and apoptosis of cardiac derived cell lines.
Book ChapterDOI
Epigenetic mechanisms in epilepsy.
Katja Kobow,Ingmar Blümcke +1 more
TL;DR: The epigenetic mechanisms can be synergistic, antagonistic, or mutually exclusive and their large variety combined with the variability and interdependence is thought to provide the molecular basis for any phenotypic variation in physiological and pathological conditions.
Journal ArticleDOI
Environmental pollution and mental health: a narrative review of literature.
Antonio Ventriglio,Antonello Bellomo,Ilaria Di Gioia,Dario Di Sabatino,Donato Favale,Domenico De Berardis,Paolo Cianconi +6 more
TL;DR: Further studies should clarify how industrial production, the exploitation of certain resources, the proximity to waste and energy residues, noise, and the change in lifestyles are connected with psychological distress and mental health problems for the affected populations.
References
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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Genome-wide maps of chromatin state in pluripotent and lineage-committed cells
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