Results 31 to 40 of about 13,098 (199)

Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation

Frontiers in Pediatrics
Background Kabuki syndrome is a genetic syndrome that affects multiple organs and systems. Gene mutations are the main cause of KS. Mutations in the KMT2D and KDM6A genes have been reported as two relatively clear pathogenic pathways.
Xuejiao Ba, Xiyao Yang, Yizhi Zhang, F. Guo, Lihong Zhu, R. Tong, Yanbin Yang, Y. Qian, Hongqing Zhang   +8 more
semanticscholar   +4 more sources

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Genomic complexity is associated with epigenetic regulator mutations and poor prognosis in diffuse large B-cell lymphoma

OncoImmunology, 2021
Diffuse large B-cell lymphoma (DLBCL) is the most common type of lymphoma with high mutation burdens but a low response rate to immune checkpoint inhibitors.
Hua You, Zijun Y. Xu-Monette, Li Wei, Harry Nunns, Máté L. Nagy, Govind Bhagat, Xiaosheng Fang, Feng Zhu, Carlo Visco, Alexandar Tzankov, Karen Dybkaer, April Chiu, Wayne Tam, Youli Zu, Eric D. Hsi, Fredrick B. Hagemeister, Jooryung Huh, Maurilio Ponzoni, Andrés J.M. Ferreri, Michael B. Møller, Benjamin M. Parsons, J. Han Van Krieken, Miguel A. Piris, Jane N. Winter, Yong Li, Qingyan Au, Bing Xu, Maher Albitar, Ken H. Young   +28 more
doaj   +1 more source

A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

Endocrine Regulations, 2023
Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3–4% of patients, thus exceeding the prevalence in the general population.
Maines Evelina, Maiorana Arianna, Leonardi Letizia, Piccoli Giovanni, Soffiati Massimo, Franceschi Roberto   +5 more
doaj   +1 more source

KMT2D deficiency confers a therapeutic vulnerability to glycolytic and IGFR inhibitors in melanoma

Molecular & Cellular Oncology, 2021
We reported that histone H3 lysine (K) 4 methyltransferase, KMT2D, serves as a potent tumor-suppressor in melanoma, which was identified via in vivo epigenome-focused RNA interference (RNAi) screen.
Navya Murugesan, Mayinuer Maitituoheti
doaj   +1 more source

Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D

Frontiers in Molecular Biosciences, 2021
Background: Metaplastic or sarcomatoid carcinomas (MSCs) are rare epithelial malignancies with heterologous histological differentiation that can occur in different organs.
Biqiang Zheng, Biqiang Zheng, Zhijian Song, Yong Chen, Yong Chen, Wangjun Yan, Wangjun Yan   +6 more
doaj   +1 more source

The low-complexity domains of the KMT2D protein regulate histone monomethylation transcription to facilitate pancreatic cancer progression

Cellular & Molecular Biology Letters, 2021
Background Liquid–liquid phase separation (LLPS) within the nucleus is directly linked to driving gene expression through transcriptional complexes. Histone lysine methyltransferase 2D (KMT2D) is widely present in many cancers.
Weihan Li, Lei Wu, Hui Jia, Zenghua Lin, Renhao Zhong, Yukun Li, Chenwei Jiang, Shifan Liu, Xiaorong Zhou, Erhao Zhang   +9 more
doaj   +1 more source

Histone H3 lysine 4 methyltransferase KMT2D [PDF]

Gene, 2017
Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and MLL2 in humans and Mll4 in mice, belongs to a family of mammalian histone H3 lysine 4 (H3K4) methyltransferases. It is a large protein over 5500 amino acids in size and is partially functionally redundant with KMT2C.
Eugene Froimchuk, Younghoon Jang, Kai Ge
openaire   +2 more sources

Growth pattern in Kabuki syndrome with a KMT2D mutation [PDF]

American Journal of Medical Genetics Part A, 2016
Kabuki syndrome is a multiple congenital malformation syndrome with a spectrum of clinical features including short stature. Since there is no growth data on Kabuki syndrome patients with a proven KMT2D gene mutation, further research on growth and growth patterns is indicated.
Schott, Dina A., Blok, Marinus J., Gerver, Wilhelmus, Devriendt, Koenraad, Zimmermann, Luc J. I., Stumpel, Constance T. R. M.   +5 more
openaire   +3 more sources

Lysine methyltransferase Kmt2d regulates naive CD8+ T cell activation-induced survival

Frontiers in Immunology, 2023
Lysine specific methyltransferase 2D (Kmt2d) catalyzes the mono-methylation of histone 3 lysine 4 (H3K4me1) and plays a critical role in regulatory T cell generation via modulating Foxp3 gene expression.
Jaekwan Kim, Thomas Nguyen, Jeffrey Cifello, Raheel Ahmad, Yongqing Zhang, Qian Yang, Ji-Eun Lee, Xiang Li, Yan Kai, Supriyo De, Weiqun Peng, Kai Ge, Nan-ping Weng   +12 more
doaj   +1 more source