|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described.
|
24664873 |
2014 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To elucidate further the molecular characteristics of Korean patients with KS, we screened a cohort of patients with clinically defined KS for mutations in KMT2D and KDM6A.
|
24739679 |
2014 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Kabuki syndrome is caused by mutations or deletions of lysine (K)-specific methyltransferase 2D (KMT2D) and lysine-specific methylase 6A (KDM6A).
|
24838796 |
2014 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of such MLL2 mutations in KS may be comparable with deletions involving KDM6A.
|
22901312 |
2013 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of KDM6A point mutations associated with KS.
|
23076834 |
2013 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MLL2 and KDM6A cause Kabuki syndrome.
|
23913813 |
2013 |
|
Kabuki make-up syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.
|
22197486 |
2012 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
|
22840376 |
2012 |
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.
|
22197486 |
2012 |
|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Kabuki make-up syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Kabuki make-up syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
EZH2, JMJD3 and UTX have been extensively studied for their involvement in development, immune system, neurodegenerative disease, and cancer.
|
31285428 |
2019 |
|
Malignant Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Importantly, the Cancer Genome Atlas AML cohort reveals that DOCK5/ 8 levels are correlated with MBD3 and KDM6A, and DOCK5/ 8 expression is significantly increased in patients who are MBD3 low and KDM6A high with a poor survival.
|
30668141 |
2019 |
|
Malignant Neoplasms
|
0.600 |
GeneticVariation
|
group |
BEFREE |
UTX and its protein interactors within the COMPASS family, including the MLL3 and MLL4 lysine methyltransferases, are frequently mutated in multiple human cancers; however, the molecular basis of how these mutations contribute to oncogenesis remains unclear.
|
30753822 |
2019 |
|
Malignant Neoplasms
|
0.600 |
GeneticVariation
|
group |
BEFREE |
KDM6A is mutated in the human condition Kabuki syndrome type 2 (OMIM 300867) and in many cases of cancer.
|
31097364 |
2019 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
|
31221981 |
2019 |
|
Malignant Neoplasms
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Likely because its function is contingent on its interacting transcription factors, the effects of UTX inactivation are not uniform and require detailed investigation in each cancer type.
|
30628063 |
2019 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
The X-linked histone demethylase UTX has a pivotal role in cellular and developmental processes including embryogenesis, hematopoiesis and cancer.
|
29421189 |
2018 |
|
Malignant Neoplasms
|
0.600 |
GeneticVariation
|
group |
BEFREE |
KDM6A, an X chromosome-encoded histone demethylase and member of the COMPASS-like complex, is frequently mutated in a broad spectrum of malignancies and contributes to oncogenesis with poorly characterized mechanisms.
|
29533787 |
2018 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
Loss or inactivation of the histone H3K27 demethylase UTX occurs in several malignancies, including multiple myeloma (MM).
|
29045832 |
2017 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
A gene co-expression network identified using TCGA prostate tumour RNA-sequencing identifies co-regulated cancer genes associated with 2-oxoglutarate (2-OG) and succinate metabolism, including TET2, lysine demethylase (KDM) KDM6A, BRCA1-associated BAP1, and citric acid cycle enzymes IDH1/2, SDHA/B, and FH.
|
27819678 |
2017 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
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.
|
27151432 |
2016 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
We review the most recent evidence on the underlying roles of MLL3/MLL4 and UTX in cancer and highlight key outstanding questions to help drive future research and contribute to our fundamental understanding of cancer and facilitate identification of therapeutic opportunities.
|
27638352 |
2016 |
|
Malignant Neoplasms
|
0.600 |
Biomarker
|
group |
BEFREE |
The role and mechanisms of both JMJD3 and UTX have been extensively studied for their involvement in development, cell plasticity, immune system, neurodegenerative disease, and cancer.
|
26193001 |
2015 |