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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DissertationDOI
Mechanisms underlying the temporal and selective induction of Ptf1a target genes
TL;DR: In this paper , a point mutation within the C-terminus of PTF1a was identified and characterized, leading to the induction of a mixed glutamatergic and GABAergic neuronal transmitter phenotype.
Journal ArticleDOI
Mutacje genów kompleksu BAF jako nowy czynnik etiologiczny izolowanej oraz syndromicznej niepełnosprawności intelektualnej w zespołach Coffina i Siris oraz Nicolaidesa i Baraitsera
TL;DR: This work has shown that the relation has been found in the functioning of the human counterpart of the complex SWI/SNF, complex BAF (BRG- or BRM-associated factor), with the processes of tumor suppressor and intellectual disabilities and malformations syndromes, which is currently the subject of intense research in molecular genetics.
Journal ArticleDOI
Investigating the structural features of chromodomain proteins in the human genome and predictive impacts of their mutations in cancers.
Rashmi Dahiya,Ahmad Abu Turab Naqvi,Taj Mohammad,Mohamed F. Alajmi,Md. Tabish Rehman,Afzal Hussain,Md. Imtaiyaz Hassan +6 more
TL;DR: The structural conservations associated with diverse functions, prognostic significance and functional consequences of mutations within chromodomain of human proteins in distinct cancers are reported.
Journal ArticleDOI
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
Valeria Barili,Enrico Ambrosini,Vera Uliana,Melissa Bellini,Giulia Vitetta,Davide Martorana,A. J. Taiani,Erika De Sensi,Sarah K Hilton,Siddharth Banka,Antonio Percesepe +10 more
TL;DR: In this paper , the authors described three cases from a cohort of patients with NDD in which whole exome sequencing (WES) was applied, in order to underline the typical challenges encountered during the diagnostic process.
Journal ArticleDOI
The frequency of somatic mutations in cancer predicts the phenotypic relevance of germline mutations
TL;DR: In this article , a machine learning-based framework was applied to the problem of pathogenic mutations in both germline and somatic cells, and the results indicated that the combination of tolerance for mutations at the cell viability level (measured by the frequency of somatic mutations in cancer) and functional relevance are the main predictors of disease genes.
References
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Journal ArticleDOI
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TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal ArticleDOI
Translating the Histone Code
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Journal ArticleDOI
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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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
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