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Two novel missense mutations: p.G325A in the KDM6A gene responsible for Kabuki syndrome and p.G1877V in the SCN1A (show SCN1A Proteins) gene responsible for generalized epilepsy with febrile seizures plus were identified using the TruSight One sequencing panel.
inactivating mutations of KDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2 (show EZH2 Proteins).
Study presents a mutation screening of patients with Kabuki syndrome type 1 which identified 208 mutations in KMT2D. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo.
Data show that more mutations in the histone lysine demethylase (show MBD2 Proteins) KDM6A were present in non-invasive tumors from females than males.
Here, we discuss the roles of lysine 27 demethylases, JMJD3 and UTX, in cancer and potential therapeutic avenues targeting these enzymes. Despite a high degree of sequence similarity in the catalytic domain between JMJD3 and UTX, numerous studies revealed surprisingly contrasting roles in cellular reprogramming and cancer, particularly leukemia
we identified a novel de novo deletion of KDM6A in a Chinese girl with KS. We consider her allergic skin manifestations to be part of the phenotypic spectrum of KS
KDM6A and p21CIP1 (show CDKN1A Proteins) expression are essential to curb E7 induced replication stress to levels that do not markedly interfere with cell viability
Study identified a feed-forward loop between UTX and ER in the regulation of hormonally responsive breast carcinogenesis.
Mutation in KDM6A gene is associated with cancer more frequently in males.
Pathogenic variants in KMT2D resulting in protein truncation in 43% (6/14; of which 3 are novel) of all cases were detected, while analysis of KDM6A was negative. MLPA analysis was negative in all instances.
When JMJD3 levels were decreased by RNA interference, the embryo development rate and quality were improved, but the knockdown of UTX produced the opposite results.
results reveal a previously unknown role of kdm6a in promoting innate IFN-beta (show IFNB1 Proteins) gene transcription at enhancer, in addition to demethylation at promoter
Long-term exposure to atmospheric particulates, PM2.5 up-regulated H3K4 and H3K9 methylation in IL-6 (show IL6 Proteins) and IFN-beta (show IFNB1 Proteins) promoter regions through down-regulating Kdm6a expression. The results suggest that short-term exposure to PM2.5 significantly enhances the survival rate of influenza A-contaminated mice, while long-term PM2.5 inhalation lowers the capacity of pulmonary macrophages to secrete IL-6 (show IL6 Proteins) and IFN-beta (show IFNB1 Proteins).
UTX-MLL4-p300 (show NOTCH1 Proteins) transcriptional regulatory network establishing an "active enhancer landscape" and defines a detailed mechanism for the joint deposition of H3K4me1 and H3K27ac.
These results suggest that the demethylase (show MBD2 Proteins) activity of Jmjd3, but not that of Utx, affects mouse axial patterning in concert with alterations in Hox (show MSH2 Proteins) gene expression.
Utx governs adipogenesis by regulating c-Myc (show MYC Proteins) in a differentiation stage-specific manner
Ectopic expression of KDM6A antagonized TGF-beta (show TGFB1 Proteins)-induced epithelial-mesenchymal transition and cell migration of lung cancer cells through its demethylase (show MBD2 Proteins) activity.
this study reveals how UTX regulates the development of invariant natural killer T cells through multiple epigenetic mechanisms
The results define UTX as a bivalency-resolving histone modifier necessary for stem cell differentiation
Study demonstrated that the mammary luminal lineage relies on KDM6A to ensure a transcription program leading to differentiated alveoli. Failure to fully implement this program results in structurally and functionally impaired mammary tissue.
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3.
lysine (K)-specific demethylase 6A
, bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))
, histone demethylase UTX
, lysine-specific demethylase 6A
, ubiquitously transcribed tetratricopeptide repeat protein X-linked
, ubiquitously-transcribed TPR gene on the X chromosome
, ubiquitously-transcribed TPR protein on the X chromosome
, ubiquitously transcribed tetratricopeptide repeat, X chromosome
, 4lysine (K)-specific demethylase 6A
, ubiquitously transcribed TPR protein on the X chromosome
, ubiquitously transcribed X chromosome tetratricopeptide repeat protein
, ubiquitously transcribed tetratricopeptide repeat gene, X chromosome
, ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome