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Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1255 - 1259
Journal Article
Neuroscience and Biobehavioral Reviews, ISSN 0149-7634, 12/2016, Volume 71, pp. 729 - 738
Autism spectrum disorders (ASD) are heritable neurodevelopmental conditions characterized by impairment in social interaction and communication and restricted,... 
Autism spectrum disorders | Biomarkers | microRNA | Epigenetic | TARGET | NEUROSCIENCES | MECP2 | DE-NOVO MUTATIONS | MESSENGER-RNA | GENE | BIOGENESIS | SEED REGION | MOUSE MODEL | BEHAVIORAL SCIENCES | MENTAL-RETARDATION PROTEIN | EXPRESSION | Autism Spectrum Disorder | Neuronal Plasticity | Humans | MicroRNAs | Autism | Deregulation | MicroRNA | Epigenetic inheritance | Genetic transcription | Social aspects
Journal Article
Science, ISSN 0036-8075, 8/2011, Volume 333, Issue 6046, pp. 1161 - 1163
MED23 is a subunit of the Mediator complex, a key regulator of protein-coding gene expression. Here, we report a missense mutation (p. R617Q) in MED23 that... 
Chromatin | Intellectual disability | Transcriptional activation | rev genes | Immediate early genes | Genes | REPORTS | Cell lines | Fibroblasts | Gene expression | Genetic mutation | RECRUITMENT | ACTIVATION | JUN | MECHANISM | PATHWAY | TFIIH | MULTIDISCIPLINARY SCIENCES | CHROMATIN MODIFICATION | PREINITIATION COMPLEX | TRANSCRIPTIONAL REGULATION | MEDIATOR COMPLEX | Promoter Regions, Genetic | Transcription Factor 4 | Humans | Transcriptional Activation | Cells, Cultured | Gene Expression Regulation | Male | Mediator Complex - genetics | Mutation, Missense | Intellectual Disability - genetics | Transcription Factors - metabolism | Chromatin Immunoprecipitation | Pedigree | ets-Domain Protein Elk-1 - metabolism | Genes, fos | Early Growth Response Protein 1 - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism | Female | Genes, Immediate-Early | Histones - metabolism | Genes, jun | Intelligence levels | Gene mutations | Intellect | Physiological aspects | DNA binding proteins | Research | Proteins | Mutagenesis | Cognition & reasoning | Molecular biology | Neurological disorders | ets-Domain Protein Elk-1 | Life Sciences | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Early Growth Response Protein 1 | Histones | Genetics | Transcription Factors | Mediator Complex | Intellectual Disability | Human genetics
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2019, Volume 96, Issue 3, pp. 254 - 260
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, p. 15910
Journal Article
Journal Article
Nature Neuroscience, ISSN 1097-6256, 11/2015, Volume 18, Issue 12, pp. 1731 - 1736
Journal Article