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TranscriptomicsKMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation
Kabuki Syndrome (KS) is a multisystemic rare disorder, characterized by growth delay, distinctive facial features, intellectual disability, and rarely autism spectrum disorder. This condition is mostly caused by de novo mutations of KMT2D, encoding a catalytic subunit of the COMPASS complex involved...
ORGANISM(S): Homo sapiens 
2022-12-25 | E-MTAB-10244 | biostudies-arrayexpress
ProteomicsMLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki Syndrome
The genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depends on multivalent interactions occurring among transcription factors, cofactors...
ORGANISM(S): Homo sapiens (Human) 
2020-09-22 | PXD021616 | Pride
Kabuki syndrome Ptm Epiprofile Histone Mass spectrometry 
GenomicsNext Generation Mendelian Genetics: Kabuki Syndrome

The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from...

phs000295.v1.p1 | EGA
GenomicNext Generation Mendelian Genetics: Kabuki Syndrome

The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from par...

phs000295 | dbGaP
GenomicsKabuki syndrome DNA methylation data
Kabuki syndrome DNA methylation data
PRJNA902711 | ENA
ProteomicsKetogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki Syndrome
Kabuki syndrome (KS) is a genetic disorder caused by DNA mutations in KMT2D, a lysine methyltransferase that methylates histones and other proteins, and therefore modifies chromatin structure and subsequent gene expression. Ketones, derived from the ketogenic diet, are histone deacetylase inhibitors...
ORGANISM(S): Homo sapiens (Human) 
2024-06-23 | PXD050547 | Pride
Neurodevelopment Tmtpro Butyrate Hydrophilic interaction liquid chromatography Single-cell rna sequencing Lysine methyltransferase Epigenetic Tandem mass tag 
GenomicsNext Generation Mendelian Genetics: Kabuki Syndrome
Next Generation Mendelian Genetics: Kabuki Syndrome
PRJNA74857 | ENA
TranscriptomicsDeletion of UTX, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Kabuki syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome described in 19811,2. In 2010, exome sequencing identified MLL2 mutations in patients with KS3. Since then, 5 studies identified a mutation in MLL2 in 56-75,6% of KS patients3-7. Here, we describe 2 ...
ORGANISM(S): Homo sapiens 
2012-01-01 | E-GEOD-32567 | biostudies-arrayexpress
GenomicsPatients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
PRJNA478052 | ENA
GenomicsGrowth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.
Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.
PRJNA1092249 | ENA
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