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
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Book ChapterDOI
Pediatric genomics and precision medicine in childhood
TL;DR: The analysis of the genome in pediatrics by next generation sequencing allows reaching the diagnosis in a large number of patients in all pediatric clinical disciplines, such as neurodevelopmental disorders, pediatric cancer, and rare and undiagnosed diseases.
Journal ArticleDOI
Cognitive neural mechanism of sports competition pressure source
Yucheng Zhou,Feifei Zhou +1 more
TL;DR: The development of using psychological pressure on athletes’ source data, the application of natural language processing and machine learning technology research these data, mainly using clustering algorithm and recommendation algorithm, thus forming pressure source research results are applied in sports competitions.
Dissertation
Caractérisation d'un modèle d'infection cérébrale in utero par le cytomégalovirus chez le rat : conséquences post-natales et rôle de l'activation microgliale
TL;DR: L’infection par le cytomegalovirus (CMV) au cours de la grossesse est frequente and represente the premiere cause of pathologie neurodeveloppementale, and resultats confirment l’alteration du SIC aucours of l”infection cerebrale par le CMV du cerveau en developpements in utero chez le rat.
Book ChapterDOI
The emerging potential for epigenetic therapeutics in noncancer disorders
TL;DR: Insights into the pathogenesis of noncancer-related common diseases, including neurological, metabolic, and autoimmune disorders, are steadily being accrued through the analysis of the epigenome, with improved understanding of the detailed and sequence-specific biological mechanisms involved, but also novel therapeutic targets.
References
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Journal ArticleDOI
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Journal ArticleDOI
Translating the Histone Code
Thomas Jenuwein,C. David Allis +1 more
TL;DR: It is proposed that this epigenetic marking system represents a fundamental regulatory mechanism that has an impact on most, if not all, chromatin-templated processes, with far-reaching consequences for cell fate decisions and both normal and pathological development.
Journal ArticleDOI
Functions of DNA methylation: islands, start sites, gene bodies and beyond
TL;DR: Improved genome-scale mapping of methylation allows us to evaluate DNA methylation in different genomic contexts: transcriptional start sites with or without CpG islands, in gene bodies, at regulatory elements and at repeat sequences.
Journal ArticleDOI
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Ruthie E. Amir,Ignatia B. Van den Veyver,Mimi Wan,Charles Q. Tran,Uta Francke,Huda Y. Zoghbi +5 more
TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
Journal ArticleDOI
Genome-wide maps of chromatin state in pluripotent and lineage-committed cells
Tarjei S. Mikkelsen,Manching Ku,Manching Ku,David B. Jaffe,Biju Issac,Biju Issac,Erez Lieberman Aiden,Erez Lieberman Aiden,Georgia Giannoukos,Pablo Alvarez,William Brockman,Tae Kyung Kim,Richard Koche,Richard Koche,Richard Koche,William Lee,Eric M. Mendenhall,Eric M. Mendenhall,Aisling O'Donovan,Aviva Presser,Carsten Russ,Xiaohui Xie,Alexander Meissner,Marius Wernig,Rudolf Jaenisch,Chad Nusbaum,Eric S. Lander,Eric S. Lander,Bradley E. Bernstein,Bradley E. Bernstein +29 more
TL;DR: The application of single-molecule-based sequencing technology for high-throughput profiling of histone modifications in mammalian cells is reported and it is shown that chromatin state can be read in an allele-specific manner by using single nucleotide polymorphisms.
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