KMT2C and KMT2D aberrations in breast cancer
KMT2C and KMT2D are histone lysine methyltransferases responsible for the monomethylation of histone 3 lysine 4 (H3K4) residues at gene enhancer sites. KMT2C/D are the most frequently mutated histone methyltransferases (HMTs) in breast cancer, occurring ...
Sinéad Toomey +2 more
exaly +6 more sources
Case Report: Exploring KMT2D mutation in Shone syndrome [PDF]
IntroductionShone syndrome is a rare congenital heart disease characterized by multilevel left-sided obstructive lesions. KMT2D variants cause Kabuki syndrome and are frequently associated with left-sided obstructive congenital heart defects, but their ...
Peiwen Cheng +4 more
doaj +3 more sources
The role of the lysine histone methylase KMT2D in chronic myeloid leukemia [PDF]
Chronic myeloid leukemia (CML) can be effectively treated inhibiting the disease-causing BCR::ABL1 kinase by tyrosine kinase inhibitors (TKIs). Although therapy is initially tremendously successful, resistance may occur in up to 25% of CML patients ...
Lina Schlemminger +4 more
doaj +5 more sources
KMT2D regulates activation, localization, and integrin expression by T-cells
Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood.
Sarah J. Potter +21 more
doaj +4 more sources
KMT2D suppresses Sonic hedgehog-driven medulloblastoma progression and metastasis
Summary: The major cause of treatment failure and mortality among medulloblastoma patients is metastasis intracranially or along the spinal cord. The molecular mechanisms driving tumor metastasis in Sonic hedgehog-driven medulloblastoma (SHH-MB) patients,
Reeti Mayur Sanghrajka +8 more
doaj +4 more sources
Identifying KDM5B as the synthetic lethal target of KMT2D-mutated osteosarcoma
Osteosarcoma (OS) is a malignant bone tumor that occurs commonly in adolescents or children, previous studies have shown its complex epigenetic signature.
Lihui Wang, Liyu Yang, Xin-Yu Fan
exaly +4 more sources
Histone methyltransferase KMT2D contributes to the protection of myocardial ischemic injury
Histone H3 lysine 4 (H3K4) methyltransferase 2D (KMT2D) plays an important role in cell development in early life. However, the function of KMT2D in adult cells such as cardiomyocytes or neurons has not been reported.
Shu-Bao Liu +6 more
doaj +3 more sources
KMT2D temporally activates neuronal transcriptional factor genes to mediate cerebellar granule cell differentiation [PDF]
Spatiotemporal gene expression is the fundamental feature of cellular differentiation, including neuron differentiation. The epigenetic mechanism underlying spatiotemporal gene regulation during in vivo neuron differentiation remains largely unknown ...
Shilpa S. Dhar +9 more
semanticscholar +2 more sources
KMT2D Regulates Tooth Enamel Development
Amelogenesis, the process of enamel formation, is tightly regulated and essential for producing the tooth enamel that protects teeth from decay and wear.
H. Kwon +7 more
semanticscholar +4 more sources
In vivo CRISPR screening reveals cooperation of KMT2D and TP53 deficiencies in B-cell lymphomagenesis [PDF]
Key Points • In vivo CRISPR screening allows efficient evaluation of DLBCL drivers, showing cooperation of Kmt2d/Trp53 losses in B-cell lymphomagenesis.• Combined Kmt2d and Trp53 inactivation induces Yap1 overexpression in B-cell lymphomas and Yap1 ...
Kentaro Yamaguchi +19 more
semanticscholar +2 more sources

