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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 
Gene expression during cellular differentiation is coordinated by combinatorial interactions between transcription factors (TFs) and cofactors at promoters and enhancers. The “master TF” GATA1 coordinates gene transcription in a subset of hematopoietic lineages, including erythroid, megakaryocytic, ...
ORGANISM(S): Homo sapiens (Human) 
2026-04-10 | PXD076443 | Pride
KMT2D is required in the cardiac mesoderm, anterior heart field precursors and cardiomyocytes. Kmt2d deletion in cardiac mesoderm (Mesp1Cre) is embryonic lethal at E10.5 and mutants have hypoplastic hearts; Kmt2d deletion in anterior heart field precursors (Mef2cAHF::Cre) deletion is embryonic letha...
ORGANISM(S): Mus musculus 
We identified KMT2D target loci in OCI-LY7 by ChIPseq. KMT2D ChIPseq was carried out in the LY7 cell line (n=1).
ORGANISM(S): Homo sapiens 
RNA-seq of KMT2D Knockout and KMT2D WT melanoma in mice
Genome-wide maps of chromatin state in KMT2D Knockout and KMT2D WT melanoma in mice
Chip-seq data for KMT2D HNSCC
mRNA-seq data for KMT2D HNSCC
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
KMT2D is essential for cerebellar granule cell differentiation
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