Results 181 to 190 of about 13,098 (199)

Exercise training alleviates cholesterol and lipid accumulation in mice with non-alcoholic steatohepatitis: reduction of KMT2D-mediated histone methylation of IDI1.

Experimental Cell Research
Exercise training is a cornerstone treatment for non-alcoholic fatty liver disease (NAFLD). This study aims to investigate the effects of exercises on lipid accumulation in non-alcoholic steatohepatitis (NASH) and to explore the molecular mechanism ...
Xiuqin Fan, Hongshi Wang, Weiwei Wang, Jiayan Shen, Zejun Wang   +4 more
semanticscholar   +1 more source

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas

Genes, Chromosomes and Cancer, 2016
Intraocular medulloepithelioma (IO‐MEPL) is an uncommon embryonal neuroepithelial neoplasm of the eye. Little is known about the cytogenetics, molecular biology, and pathogenesis of this tumor. In the present study we investigated the mutational landscape of 19 IO‐MEPL using targeted next‐generation sequencing.
Felix, Sahm, Frederick A, Jakobiec, Jochen, Meyer, Daniel, Schrimpf, Charles G, Eberhart, Volker, Hovestadt, David, Capper, Sander, Lambo, Marina, Ryzhova, Ulrich, Schüller, Olga, Zheludkova, Ella, Kumirova, Peter, Lichter, Andreas, von Deimling, David T W, Jones, Stefan M, Pfister, Marcel, Kool, Andrey, Korshunov   +17 more
openaire   +2 more sources

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

American Journal of Medical Genetics Part A, 2018
Kabuki syndrome (KS) is an extremely rare genetic disorder, mainly caused by germline mutations at specific epigenetic modifier genes, including KMT2D. Because the tumor suppressor gene KMT2D is also frequently altered in many cancer types, it has been suggested that KS may predispose to the development of cancer. However, KS being a rare disorder, few
de Billy E., Strocchio L., Cacchione A., Agolini E., Gnazzo M., Novelli A., De Vito R., Capolino R., Digilio M. C., Caruso R., Mastronuzzi A., Locatelli F.   +11 more
openaire   +2 more sources

KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition

Cancer Cell, 2023
Xinyuan Tong, Hua Zhang, Fiona Sherman   +2 more
exaly  

KMT2D Deficiency Impairs Super-Enhancers to Confer a Glycolytic Vulnerability in Lung Cancer

Cancer Cell, 2020
Chandra Shekar R Ambati, Manish Kumar, Yu-Hsi Lin   +2 more
exaly  

KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells

Proceedings of the National Academy of Sciences of the United States of America, 2023
Govind Bhagat, Laura Pasqualucci, Rajesh Kumar Soni   +2 more
exaly  

KMT2D Gene

2020
openaire   +1 more source

KMT2D Mutation

2020
openaire   +1 more source

Near complete deletion of KMT2D in a college student

American Journal of Medical Genetics, Part A, 2022
Bekim Sadikovic, Nathaniel Robin, Catherine Gooch   +2 more
exaly  

Interrogating the roles of KMT2C and KMT2D in cartilage and skeletal development

Mutations in KMT2D, a histone 3 lysine 4 (H3K4) methyltransferase, have been implicated in Kabuki syndrome, a craniofacial development disorder. Patients often present with facial dysmorphology, in addition to skeletal abnormalities concerning spinal curvature, shortened peripheral bone length, and joint problems.
openaire   +1 more source