Results 171 to 180 of about 13,098 (199)

Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations

Brain and Development, 2017
The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this.We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years).
Naoko, Kurahashi, Noriko, Miyake, Seiji, Mizuno, Eriko, Koshimizu, Hirokazu, Kurahashi, Keitaro, Yamada, Jun, Natsume, Yusuke, Aoki, Miho, Nakamura, Hiroko, Taniai, Yuki, Maki, Chihiro, Abe-Hatano, Naomichi, Matsumoto, Koichi, Maruyama   +13 more
openaire   +2 more sources

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1

Birth Defects Research, 2023
AbstractBackgroundKabuki syndrome type 1 (KS1), a rare multisystem congenital disorder, presents with characteristic facial features, intellectual disability, persistent fetal fingertip pads, skeletal abnormalities, and postnatal growth delays. KS1 results from pathogenic variants in the KMT2D gene, which encodes a histone methyltransferase protein ...
Maria A Serrano, Carly Golden, Saylor Williams   +2 more
exaly   +3 more sources

Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder

American Journal of Medical Genetics Part A, 2021
AbstractRecognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation.
Rachel T. Stadelmaier, Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf Bodamer, Pankaj B. Agrawal, Caroline D. Robson, Monica H. Wojcik   +7 more
openaire   +2 more sources

KMT2D upregulates SMG1 via histone methylation to antagonize mTOR and reinforce DLBCL ferroptosis.

Journal of Leukocyte Biology
Diffuse large B-cell lymphoma (DLBCL) is highly heterogeneous and prone to epigenetic mutations. Non-apoptotic cell death pathways, especially ferroptosis, have become an emerging direction for cancer treatment.
Yongcheng Sun, Zhijuan Xu, Zanzan Wang, Yanli Zhang, Ping Zhang, Lixia Sheng, Shujun Yang, Guifang Ouyang   +7 more
semanticscholar   +1 more source

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

Clinical Genetics, 2014
Kabuki or Niikawa–Kuroki syndrome (KS) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media.
J-L, Lin, W-I, Lee, J-L, Huang, P K-T, Chen, K-C, Chan, L-J, Lo, Y-J, You, Y-F, Shih, T-Y, Tseng, M-C, Wu   +9 more
openaire   +2 more sources

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity

Ophthalmic Genetics
Background Kabuki Syndrome (KS) is a rare multiple congenital anomaly syndrome originally described in 1981 by Japanese clinicians. KS belongs to the family of chromatinopathies, a group of disorders characterized by abnormalities in chromatin regulation
F. López-Font, Sofia De Arrigunaga, N. F. Santos da Cruz, Jason C Fan, Serena M Shah, Julia L. Hudson, Nicholas A. Borja, Deborah S. Barbouth, Audina M. Berrocal   +8 more
semanticscholar   +1 more source

Histone-Lysine N-Methyltransferase 2D (KMT2D) Impending Therapeutic Target for the Management of Cancer: The Giant Rats Tail.

Journal of Environmental Pathology And Toxicology
The histone-lysine N-methyltransferase 2D (KMT2D), tumor suppressor gene which is the major component of histone H3K4 mono-methyltransferase in mammals and has significant role in regulation of a gene which are frequently mutated that lead to many ...
Meshak Dhanashekaran Cecileya Jasmin, Narayanaswamy Radhakrishnan, V. V. Prabhu, K. Sakthivel, R. R. Radha   +4 more
semanticscholar   +1 more source

Downregulation of KMT2D suppresses proliferation and induces apoptosis of gastric cancer

Biochemical and Biophysical Research Communications, 2018
Histone lysine methyltransferase 2D (KMT2D/MLL2) is a known cancer-related protein; however, its function in gastric cancer (GC) remains uncharacterized. The present study sought to investigate the expression pattern and the role of KMT2D in GC.The expression of KMT2D were evaluated at mRNA and protein levels, while its clinico-pathological value were ...
Wenjun, Xiong, Zhenxuan, Deng, Yuxin, Tang, Zhenwei, Deng, Mingsong, Li   +4 more
openaire   +2 more sources

Down-regulation of KMT2D mitigates neointimal hyperplasia following carotid artery injury in diabetic rats.

Biochemical and Biophysical Research Communications - BBRC
Neointimal hyperplasia (NIH) is a critical pathological process in diabetic vascular restenosis, yet the role of histone-lysine N-methyltransferase 2D (KMT2D) remains undefined.
Cuiyuan Huang, Yunping Sun, Jingyi Wu, Di Wu, Li Liu, Wenqiang Li, Wei Wang, Jian Yang, Jing Zhang   +8 more
semanticscholar   +1 more source

The Role of Lysine Methyltransferase KMT2D in Head and Neck Cancer

2023
Head and neck squamous carcinoma (HNSC) is the one of the most frequent cancers worldwide, with 890,000 cases diagnosed and 450,000 deaths each year. The majority of HNSC patients presents with advanced tumors and lymph node metastasis. Recurrence after treatment is a frequent clinical problem, and the five year survival rate for HNSC patients is low ...
openaire   +1 more source