Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability - Wikidata - wikimedia - TriplyDB

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

http://www.wikidata.org/entity/Q34283663

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De novo mutations in moderate or severe intellectual disability Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches Hijacked in cancer: the KMT2 (MLL) family of methyltransferases From neural development to cognition: unexpected roles for chromatin.Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families Regulation of histone H3K4 methylation in brain development and disease.Unmasking Kabuki syndrome.Epigenetic Developmental Disorders: CHARGE syndrome, a case study Molecular convergence of neurodevelopmental disorders Investigation of genes important in neurodevelopment disorders in adult human brain.BOD1 Is Required for Cognitive Function in Humans and Drosophila.Exome sequencing identifies three novel candidate genes implicated in intellectual disability The discovery of integrated gene networks for autism and related disorders.Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.Microarray Analysis Reveals Potential Biological Functions of Histone H2B Monoubiquitination.The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.Extended spectrum of MBD5 mutations in neurodevelopmental disorders.Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.Genetic syndromes caused by mutations in epigenetic genes.Emerging roles for chromatin as a signal integration and storage platform.Histone methylation during neural development.Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability and Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).A drive in SUVs: From development to disease.Histone Lysine Methylation and Neurodevelopmental Disorders.Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.

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P2860

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

http://www.wikidata.org/entity/Q34283663

description

2012 nî lūn-bûn

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2012 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2012 թվականի հունիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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name

Disruption of an EHMT1-associa ...... causes intellectual disability

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Disruption of an EHMT1-associa ...... causes intellectual disability

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Disruption of an EHMT1-associa ...... causes intellectual disability

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type

label

Disruption of an EHMT1-associa ...... causes intellectual disability

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Disruption of an EHMT1-associa ...... causes intellectual disability

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Disruption of an EHMT1-associa ...... causes intellectual disability

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prefLabel

Disruption of an EHMT1-associa ...... causes intellectual disability

@ast

Disruption of an EHMT1-associa ...... causes intellectual disability

@en

Disruption of an EHMT1-associa ...... causes intellectual disability

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J.AJHG.2012.05.003

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American Journal of Human Genetics

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Arjan P M de Brouwer

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Han G Brunner

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Huiqing Zhou

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Jeroen van Reeuwijk

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Koenraad Devriendt

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Kornelia Neveling

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Marjolein H Willemsen

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Michaela Fenckova

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Nael Nadif Kasri

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Robin D Clark

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P2860

A novel nuclear receptor corepressor complex, N-CoR, contains components of the mammalian SWI/SNF complex and the corepressor KAP-1

The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA

Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure

SMART, a simple modular architecture research tool: identification of signaling domains

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

TreeFam: a curated database of phylogenetic trees of animal gene families

The ankyrin repeats of G9a and GLP histone methyltransferases are mono- and dimethyllysine binding modules

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1

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91

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Christian Gilissen

Annette Schenck

Lisenka Vissers

Joris A Veltman

Hans Van Bokhoven

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2012-06-21T00:00:00Z

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