Results 71 to 80 of about 13,098 (199)

A novel KMT2D mutation resulting in Kabuki syndrome: A case report

Molecular Medicine Reports, 2016
Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects.
Lu, Jun, Mo, Guiling, Ling, Yaojun, Ji, Lijuan   +3 more
openaire   +3 more sources

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

Cancer Cell, 2022
SUMMARY Lung squamous cell carcinoma (LUSC) represents a major subtype of lung cancer with limited treatment options. KMT2D is one of the most frequently mutated genes in LUSC (>20%), and yet its role in LUSC oncogenesis remains unknown.
Yuanwang Pan, Han Han, Hai-fang Hu, Hua Wang, Yueqiang Song, Yuan Hao, Xinyuan Tong, Ayushi S. Patel, Selim Misirlioglu, Sittinon Tang, Hsinyi Huang, Ke Geng, Ting Chen, Angeliki Karatza, Fiona Sherman, K. Labbe, Fan Yang, Alison Chafitz, C. Peng, Chenchen Guo, A. Moreira, V. Velcheti, Sally C. M. Lau, Pengfei Sui, Haiquan Chen, J. Diehl, A. Rustgi, A. Bass, J. Poirier, Xiaoyang Zhang, Hongbin Ji, Hua Zhang, Kwok Kei Sandra Wong   +32 more
semanticscholar   +1 more source

Identification of MEF2A, MEF2C, and MEF2D interactomes in basal and Fsk‐stimulated mouse MA‐10 Leydig cells

Andrology, EarlyView.
Abstract Background Myocyte enhancer factor 2 transcription factors regulate essential transcriptional programs in various cell types. The activity of myocyte enhancer factor 2 factors is modulated through interactions with cofactors, chromatin remodelers, and other regulatory proteins, which are dependent on cell context and physiological state.
Karine de Mattos, Marie‐Pier Scott‐Boyer, Arnaud Droit, Robert S. Viger, Jacques J. Tremblay   +4 more
wiley   +1 more source

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations

Heliyon, 2023
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome that is characterized by postnatal growth deficiency, hypotonia, short stature, mild-to-moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads, and ...
Sheng Yi, Xiaofei Zhang, Qi Yang, Jingjing Huang, Xunzhao Zhou, Jiale Qian, Pingshan Pan, Shang Yi, Shujie Zhang, Qiang Zhang, Xianglian Tang, Limei Huang, Qinle Zhang, Zailong Qin, Jingsi Luo   +14 more
doaj   +1 more source

KMT2D Links TGF-β Signalling to Non-Canonical Activin Pathway and Regulates Pancreatic Cancer Cell Plasticity

International Journal of Cancer, 2023
Although KMT2D, also known as MLL2, is known to play an essential role in development, differentiation, and tumor suppression, its role in pancreatic cancer development is not well understood. Here, we discovered a novel signaling axis mediated by KMT2D,
Shuang Lu, H. Kim, Yubo Cao, Karan Bedi, Lili Zhao, Ishwarya Narayanan, Brian Magnuson, Yu-mei Gu, Jing Yang, Zhujun Yi, S. Babaniamansour, Sargis Shameon, Chang Xu, M. Paulsen, Ping Qiu, Sivakumar Jeyarajan, M. Ljungman, Dafydd G. Thomas, Y. Dou, H. Crawford, M. P. di Magliano, Kai Ge, Bo Yang, Jiaqi Shi   +23 more
semanticscholar   +1 more source

Feiwei Heji Enhances Antitumor Immunity by MLL4‐Dependent Regulation of Pyroptosis in Lung Cancer

Cancer Science, EarlyView.
Feiwei Heji suppresses lung tumor growth by downregulating MLL4 and activating caspase‐1/GSDMD‐associated pyroptosis. This pyroptosis‐related inflammatory response enhances CD8+ T‐cell‐mediated antitumor immunity, revealing an MLL4‐pyroptosis‐immune axis underlying the therapeutic activity of Feiwei Heji.
Nan Cheng, Ruoyu Jiang, Wei Li, Wenjie Huang, Qiao Peng, Tong Zhao, Chufeng Zhang   +6 more
wiley   +1 more source

PI3K Inhibition Activates SGK1 via a Feedback Loop to Promote Chromatin-Based Regulation of ER-Dependent Gene Expression

Cell Reports, 2019
Summary: The PI3K pathway integrates extracellular stimuli to phosphorylate effectors such as AKT and serum-and-glucocorticoid-regulated kinase (SGK1).
Eneda Toska, Pau Castel, Sagar Chhangawala, Amaia Arruabarrena-Aristorena, Carmen Chan, Vasilis C. Hristidis, Emiliano Cocco, Mirna Sallaku, Guotai Xu, Jane Park, Gerard Minuesa, Sophie G. Shifman, Nicholas D. Socci, Richard Koche, Christina S. Leslie, Maurizio Scaltriti, José Baselga   +16 more
doaj   +1 more source

TERT Promoter Mutations Are Preferentially Associated With the ERBB2 G776‐Altered Subtype of HER2‐Mutant NSCLC

Cancer Science, EarlyView.
A two‐stage clinicogenomic analysis identified and independently validated a preferential association between TERT promoter mutations and the ERBB2 G776‐altered subtype of HER2‐mutant NSCLC, highlighting subtype‐specific genomic heterogeneity. ABSTRACT HER2‐mutant non‐small cell lung cancer (NSCLC) comprises molecularly heterogeneous tumors with ...
Akihiro Yoshimura, Juichiro Yoshida, Chieko Takumi, Koichi Takayama   +3 more
wiley   +1 more source

Comprehensive analysis of ferroptosis-related genes reveals potential therapeutic targets in osteoporosis patients: a computational analysis and in vitro experiments

Frontiers in Genetics
BackgroundFerroptosis-related genes have been reported to play important roles in many diseases, but their molecular mechanisms in osteoporosis have not been elucidated.MethodsBased on two independent GEO datasets (GSE35956 and GSE35958), and GSE35959 as
Sihui Chen, Sihui Chen, Yi Jiang, Yi Jiang, Guoqin Xie, Guoqin Xie, Peng Wu, Peng Wu, Jinyu Zhu, Jinyu Zhu   +9 more
doaj   +1 more source

Circulating exosomal mRNA signatures for the early diagnosis of clear cell renal cell carcinoma

BMC Medicine, 2022
Highlights 1. Circulating exosomal RNA sequencing identified novel potential biomarkers of clear cell renal cell carcinoma (ccRCC). 2. The early diagnostic signature comprising KMT2D and PREX2 showed high accuracy in distinguishing ccRCCs from healthy ...
Xing He, Feng Tian, Fei Guo, Fangxing Zhang, Huiyong Zhang, Jin Ji, Lin Zhao, Jingyi He, Yutian Xiao, Longman Li, Chunmeng Wei, Caihong Huang, Yexin Li, Feng Zhang, Bo Yang, Huamao Ye, Fubo Wang   +16 more
doaj   +1 more source