Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
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Epigenetics of early child developmentTranscriptional regulator PRDM12 is essential for human pain perceptionDedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilitiesWhere Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability DisordersHistone regulation in the CNS: basic principles of epigenetic plasticityChemical probes of histone lysine methyltransferasesMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesOf mice and men: molecular genetics of congenital heart diseaseAn Analog of BIX-01294 Selectively Inhibits a Family of Histone H3 Lysine 9 Jumonji DemethylasesLSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factorsClonidine treatment delays postnatal motor development and blocks short-term memory in young mice.The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.Setdb1 histone methyltransferase regulates mood-related behaviors and expression of the NMDA receptor subunit NR2B.Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferationREST and CoREST modulate neuronal subtype specification, maturation and maintenance.Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.From neural development to cognition: unexpected roles for chromatin.Analogues of the Natural Product Sinefungin as Inhibitors of EHMT1 and EHMT2.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disabilityTranscriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism familiesCDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.Genetic basis of congenital cardiovascular malformationsUpdate on Kleefstra Syndrome.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityA mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.Pre-administration of G9a/GLP inhibitor during synaptogenesis prevents postnatal ethanol-induced LTP deficits and neurobehavioral abnormalities in adult mice.Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Investigation of genes important in neurodevelopment disorders in adult human brain.Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndromeExome sequencing identifies three novel candidate genes implicated in intellectual disabilityREST and CoREST are transcriptional and epigenetic regulators of seminal neural fate decisions.Balancing histone methylation activities in psychiatric disorders.Selective inhibitors of protein methyltransferasesDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Functional Crosstalk Between Lysine Methyltransferases on Histone Substrates: The Case of G9A/GLP and Polycomb Repressive Complex 2
P2860
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P2860
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@ast
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@en
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@nl
type
label
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@ast
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@en
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@nl
prefLabel
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@ast
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@en
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@nl
P2093
P2860
P50
P3181
P356
P1476
Loss-of-function mutations in ...... subtelomeric deletion syndrome
@en
P2093
Alex Magee
Astrid R Oudakker
Ben C J Hamel
Bert B A de Vries
David Geneviève
Han G Brunner
Hilde van Esch
Willy M Nillesen
P2860
P3181
P356
10.1086/505693
P407
P50
P577
2006-08-01T00:00:00Z