Results 41 to 50 of about 13,098 (199)

Dissecting KMT2D missense mutations in Kabuki syndrome patients [PDF]

Human Molecular Genetics, 2018
Abstract Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. The discovery of frequent germline mutations in the histone methyltransferase KMT2D and the demethylase KDM6A revealed a causative role for histone ...
Cocciadiferro D., Augello B., De Nittis P., Zhang J., Mandriani B., Malerba N., Squeo G. M., Romano A., Piccinni B., Verri T., Micale L., Pasqualucci L., Merla G.   +12 more
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Histone methyltransferase KMT2D cooperates with MEF2A to promote the stem-like properties of oral squamous cell carcinoma

Cell & Bioscience, 2022
Background Epigenetic reprogramming is involved in multiple steps of human cancer evolution and is mediated by a variety of chromatin-modifying enzymes.
Xinmiao Wang, Rui Li, Luping Wu, Yang Chen, Shaopeng Liu, Hui Zhao, Yifan Wang, Lin Wang, Zhe Shao   +8 more
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Neonatal Kabuki syndrome caused by KMT2D mutation: A case report

Medicine, 2023
Background: Kabuki syndrome (KS) is an autosomal dominant inherited syndrome that involves multiple organs and systems. Gene mutation is the main cause of KS. The reported mutations in X-linked histone H3 lysine 4 methylase (KMT2D) and KDM6A genes are 2 relatively clear pathogenic pathways. In this paper, we report a case of KS
Zhang Li, Zou Ning
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Loss of KMT2D induces prostate cancer ROS-mediated DNA damage by suppressing the enhancer activity and DNA binding of antioxidant transcription factor FOXO3

Epigenetics, 2019
Histone methyltransferase KMT2D has diverse functions and distinct mechanisms in different cancers. Although we have previously found KMT2D serves as an oncogene that promotes tumor growth and metastasis in prostate cancer (PCa), the functions and ...
Shidong Lv, Haoran Wen, Xiongwei Shan, Jianhua Li, Yaobin Wu, Xinpei Yu, Wenhua Huang, Qiang Wei   +7 more
doaj   +1 more source

The significance of follow-up in patients with dysmorphic features: a case from clinical practice [PDF]

Romanian Journal of Pediatrics
Background. Kabuki syndrome is a rare disorder, that is characterized by typical facial dysmorphism, hypotonia, delay in intellectual and motor development. Case report.
Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan   +2 more
doaj   +1 more source

Expression pattern of Kmt2d in murine craniofacial tissues

Gene Expression Patterns, 2019
Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating
Chunmin, Dong, Meenakshi, Umar, Garrett, Bartoletti, Apurva, Gahankari, Lauren, Fidelak, Fenglei, He   +5 more
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KMT2D regulates p63 target enhancers to coordinate epithelial homeostasis [PDF]

Genes & Development, 2018
Epithelial tissues rely on a highly coordinated balance between self-renewal, proliferation, and differentiation, disruption of which may drive carcinogenesis. The epigenetic regulator KMT2D (MLL4) is one of the most frequently mutated genes in all cancers, particularly epithelial cancers, yet its normal function in these tissues is unknown.
Lin-Shiao, Enrique, Lan, Yemin, Coradin, Mariel, Anderson, Amy, Donahue, Greg, Simpson, Cory L., Sen, Payel, Saffie, Rizwan, Busino, Luca, Garcia, Benjamin A., Berger, Shelley L., Capell, Brian C.   +11 more
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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

Epigenetics, 2017
Kabuki syndrome (KS) is caused by mutations in KMT2D, which is a histone methyltransferase involved in methylation of H3K4, a histone marker associated with DNA methylation.
Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic   +8 more
doaj   +1 more source

Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome

Molecular Therapy: Methods & Clinical Development, 2021
Kabuki syndrome (KS) is a rare cause of intellectual disability primarily caused by loss-of-function mutations in lysine-specific methyltransferase 2D (KMT2D), which normally adds methyl marks to lysine 4 on histone 3.
Li Zhang, Genay Pilarowski, Emilio Merlo Pich, Atsushi Nakatani, John Dunlop, Rina Baba, Satoru Matsuda, Masaki Daini, Yasushi Hattori, Shigemitsu Matsumoto, Mitsuhiro Ito, Haruhide Kimura, Hans Tomas Bjornsson   +12 more
doaj   +1 more source

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

Genes, 2023
Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural abnormalities of the ear.
Allison J. Kalinousky, Teresa R. Luperchio, Katrina M. Schrode, Jacqueline R. Harris, Li Zhang, Valerie B. DeLeon, Jill A. Fahrner, Amanda M. Lauer, Hans T. Bjornsson   +8 more
openaire   +2 more sources