Sort   by:  
 Page size 
ProteomicsDe novo heterozygous variants in EHMT2 cause a novel Kleefstra related syndrome via loss of G9a methyltransferase activity
EHMT1 and EHMT2 genes encode human euchromatin histone lysine methyltransferase 1 and 2 (EHMT1 alias GLP; EHMT2 alias G9a) that form heteromeric GLP/G9a complexes with essential roles in epigenetic regulation of gene expression. While EHMT1 haploinsufficiency has been established as the cause of Kle...
ORGANISM(S): Homo sapiens (Human) 
2026-07-03 | PXD076523 | Pride
Ehmt2 Kleefstra syndrome 1 G9a proteins Ehmt1 
TranscriptomicsHistone methylation by the Kleefstra Syndrome protein EHMT1 mediates homeostatic synaptic scaling.
Homeostatic plasticity, a form of synaptic plasticity, maintains the fine balance between overall excitation and inhibition in developing and mature neuronal networks. Although the synaptic mechanisms of homeostatic plasticity are well characterized, the associated transcriptional program remains po...
ORGANISM(S): Rattus norvegicus 
2016-06-30 | E-GEOD-68960 | biostudies-arrayexpress
GenomicsEHMT1 gene truncation in HEK293 cells recapitulates Kleefstra Syndrome disease phenotype
EHMT1 gene truncation in HEK293 cells recapitulates Kleefstra Syndrome disease phenotype
PRJNA661188 | ENA
TranscriptomicsEHMT1 gene truncation in HEK293 cells recapitulates Kleefstra Syndrome disease phenotype
Haploinsufficiency of the Euchromatin histone methyltransferase 1 (EHMT1) gene leads to Kleefstra Syndrome, a rare disease characterised by moderate to severe developmental delay/intellectual disability, childhood hypotonia and distinct facial features, comprising microcephaly. This study examines t...
ORGANISM(S): Homo sapiens 
2020-09-04 | GSE157390 | GEO
UnknownExpanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Not available
S-EPMC11148766 | biostudies-literature
UnknownUpdate on Kleefstra Syndrome.
Not available
S-EPMC3366700 | biostudies-literature
UnknownIncreased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Not available
S-EPMC6007260 | biostudies-literature
UnknownPsychiatric manifestations of Kleefstra syndrome: a case report.
Not available
S-EPMC10416101 | biostudies-literature
TranscriptomicsDysregulation of NRSF/REST via EHMT1 is associated with psychiatric disorders
Genetic evidence indicates disrupted epigenetic regulation as a major risk factor for psychiatric disorders, but the molecular mechanisms that drive this association are undetermined. EHMT1 is an epigenetic repressor that is causal for Kleefstra Syndrome (KS), a neurodevelopmental disorder (NDD) lea...
ORGANISM(S): Homo sapiens 
2023-05-01 | E-MTAB-10480 | biostudies-arrayexpress
UnknownPulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
Not available
S-EPMC6107394 | biostudies-literature
Sort   by:  
 Page size