Results 111 to 120 of about 13,098 (199)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation

Case Reports in Pediatrics, 2019
Kabuki syndrome (KS) is a rare disorder primarily associated with mutations in the KMT2D and KDM6A genes. Several tumors have been reported with KS; however, there have been no reports of hepatocellular carcinoma (HCC) or hepatic adenomatosis. We present
Leander D. Timothy, Heidi D. Lehrke, Vishal S. Chandan, Amy B. Kolbe, Katryn N. Furuya   +4 more
doaj   +1 more source

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

Graefe's Archive for Clinical and Experimental Ophthalmology
Kabuki Syndrome is a rare and genetically heterogenous condition with both ophthalmic and systemic complications and typical facial features. We detail the macular phenotype in two unrelated patients with Kabuki syndrome due to de novo nonsense variants ...
V. Vaclavik, A. Navarro, Alain Jacot-Guillarmod, A. Bottani, Young Joo Sun, Joel A. Franco, Vinit B. Mahajan, V. Smirnov, Isabelle Bouvet-Drumare   +8 more
semanticscholar   +1 more source

Knockdown of Kmt2d leads to growth impairment by activating the Akt/β-catenin signaling pathway

G3
The KMT2D variant–caused Kabuki syndrome (KS) is characterized by short stature as a prominent clinical characteristic. The initiation and progression of body growth are fundamentally influenced by chondrocyte proliferation.
Huakun Shangguan, Xiaozhen Huang, Jinduan Lin, Ruimin Chen   +3 more
semanticscholar   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

The H3K4 methyltransferase KMT2D is an essential cofactor for GATA1 at erythroid gene enhancers

Nature Communications
Gene expression during cellular differentiation is coordinated by combinatorial interactions between transcription factors (TFs) and cofactors. Although the TF GATA1 coordinates gene transcription in hematopoiesis, the specific cofactors required for ...
Jianxiang Zhang, Ye Xin, Li Cheng, Yuan Xing, Yuxin Ouyang, Mengli Zhang, Yubin Chen, Ruopeng Feng, Xiaohui Qiu, Beisi Xu, Yong Cheng, Chunliang Li, Hans-Martin Herz, Mitchell J. Weiss, Peng Xu   +14 more
doaj   +1 more source

Aggressive squamous cell carcinomas arising from mucosal lichen planus: A report of three cases

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 8, Page e1129-e1132, August 2026.
Neda Cramer, Dagmar Wilsmann‐Theis, Michael P. Schön, Jörg Wenzel, Julia Gallwas, Rotraut Mössner   +5 more
wiley   +1 more source

Whole genome sequencing and single-cell transcriptomics identify KMT2D inactivation as a potential new driver for pituitary tumors: a case report

BJC Reports
The pituitary gland is a main component of the endocrine system and a master controller of hormone production and secretion. Unlike neoplastic formation in other organs, Pituitary Neuroendocrine Tumors (PitNETs) are frequent in the population (16%) and ...
M. Brunner, J. Meylan-Merlini, M. Muriset, S. Oreshkov, A. Messina, M. Messerer, R. Daniel, E. Hewer, J. Brouland, F. Santoni   +9 more
semanticscholar   +1 more source

Aggressive Plattenepithelkarzinome auf dem Boden eines Lichen ruber mucosae: Bericht über drei Fälle

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 8, Page 1129-1133, August 2026.
Neda Cramer, Dagmar Wilsmann‐Theis, Michael P. Schön, Jörg Wenzel, Julia Gallwas, Rotraut Mössner   +5 more
wiley   +1 more source

EBF2 Links KMT2D‐Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN

Advanced Science
Mono‐methylation of histone H3 on Lys 4 (H3K4me1), which is catalyzed by histone‐lysine N‐methyltransferase 2D (KMT2D), serves as an important epigenetic regulator in transcriptional control.
Bing Yao, Mengying Xing, Shixin Meng, Shang Li, Jingwan Zhou, Ming Zhang, Chen Yang, Shuang Qu, Yucui Jin, Hongyan Yuan, Ke Zen, Changyan Ma   +11 more
doaj   +1 more source

The histone methyltransferase KMT2D maintains cellular glucocorticoid responsiveness by shielding the glucocorticoid receptor from degradation

Journal of Biological Chemistry
Because of their ability to induce lymphocyte apoptosis, glucocorticoids (GC) are widely used to treat hematological malignancies such as lymphomas and multiple myeloma.
Chuan-Jin Wu, F. Livak, J. Ashwell
semanticscholar   +1 more source