Results 101 to 110 of about 13,098 (199)

Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors.

PLoS ONE, 2019
PurposeEpigenetic regulating proteins like histone methyltransferases produce variations in several functions, some of them associated with the generation of oncogenic processes.
Sara Morcillo-Garcia, Maria Del Mar Noblejas-Lopez, Cristina Nieto-Jimenez, Javier Perez-Peña, Miriam Nuncia-Cantarero, Balázs Győrffy, Eitan Amir, Atanasio Pandiella, Eva M Galan-Moya, Alberto Ocana   +9 more
doaj   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, Volume 28, Issue 4, Page 1252-1273, August 2026.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

KMT2D coordinates antiviral CD4+ T cell responses through opposing effects on T follicular helper and cytotoxic gene expression

Cell Reports
Summary: T follicular helper (TFH) cells are essential for protective antibody responses. Histone modifications direct TFH development and function; however, the role of specific chromatin modifiers in this process is not well understood.
Jonathan A. Cohen, Ashlyn A. Buzzelli, Gabrielle Quickstad, Lixin Yang, Ichiro Misumi, Karl B. Shpargel, Jason K. Whitmire   +6 more
doaj   +1 more source

Methylation of the chromatin modifier KMT2D by SMYD2 contributes to therapeutic response in hormone-dependent breast cancer

Cell Reports
SUMMARY Activating mutations in PIK3CA are frequently found in estrogen-receptor-positive (ER+) breast cancer, and the combination of the phosphatidylinositol 3-kinase (PI3K) inhibitor alpelisib with anti-ER inhibitors is approved for therapy.
Ryan Blawski, Bujamin Vokshi, Xinyu Guo, Srushti Kittane, Mirna Sallaku, Wanlu Chen, Martina Gjyzari, Tony Cheung, Yuhan Zhang, Christopher Simpkins, Weiqiang Zhou, Amanda Kulick, P. Zhao, Meihan Wei, P. Shivashankar, Tatiana M. Prioleau, P. Razavi, R. Koche, Vito W. Rebecca, E. de Stanchina, Pau Castel, H. M. Chan, Maurizio Scaltriti, Emiliano Cocco, Hongkai Ji, M. Luo, Eneda Toska   +26 more
semanticscholar   +1 more source

Unmasking a Composite Lymphoma: Follicular Lymphoma Emerging After Bispecific Antibody Treatment of Marginal Zone Lymphoma

eJHaem, Volume 7, Issue 4, August 2026.
ABSTRACT Introduction Composite indolent B‐cell lymphomas may remain unrecognized when one component dominates the clinical presentation. Apparent relapse after therapy may, therefore, represent the emergence of a biologically distinct lymphoma rather than the recurrence of the original disease.
Angel Luis Orosco‐Ttamina, Jiehao Zhou, Juliana Biondo, Farah Hossain, David Viswanatha, Patricia T. Greipp, Natasha Lewis, Javier Munoz   +7 more
wiley   +1 more source

KMT2D deficiency leads to cellular developmental disorders and enhancer dysregulation in neural-crest-containing brain organoids.

Science Bulletin
KMT2D, a H3K4me1 methyltransferase primarily regulating enhancers, is a leading cause of KABUKI syndrome. This multisystem disorder leads to craniofacial and cognitive abnormalities, possibly through neural crest and neuronal lineages.
Ziyun Shan, Yingying Zhao, Xiuyu Chen, Guodong Zhan, Junju Huang, Xuejie Yang, Chongshen Xu, Ning Guo, Zhi Xiong, Fang Wu, Yujian Liu, He Liu, Biyuan Chen, Bingqiu Chen, Jiaoyang Sun, Jiangping He, Yiping Guo, Shangtao Cao, Kaixin Wu, Rui Mao, Guangming Wu, Lihui Lin, Xiaobing Zou, Jie Wang, Jiekai Chen   +24 more
semanticscholar   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, Volume 269, Issue 4-5, Page 387-398, August 2026.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Minimal residual disease in diffuse large B‐cell lymphoma after first‐line therapy: Defining the continuum from metabolic remission to molecular clearance

British Journal of Haematology, Volume 209, Issue 2, Page 408-419, August 2026.
Summary Response assessment in diffuse large B‐cell lymphoma (DLBCL) has traditionally relied on anatomical and metabolic imaging, with fluorodeoxyglucose positron emission tomography (FDG‐PET)–defined complete metabolic remission representing the principal end‐point of first‐line therapy. However, growing evidence indicates that metabolic control does
Santino Caserta, Enrica Antonia Martino, Ernesto Vigna, Antonella Bruzzese, Mamdouh Skafi, Nicola Amodio, Eugenio Lucia, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Maria Eugenia Alvaro, Fortunato Morabito, Massimo Gentile   +12 more
wiley   +1 more source

KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary

Nature Communications, 2018
Adult-type granulosa cell tumors of the ovary (aGCTs) are rare and recurrence is difficult to treat. Here, the authors observe in aGCT a novel recurrent somatic truncating mutation of KMT2D, more frequent in recurrent aGCT, and also non-genetic loss of ...
R. Tyler Hillman, Joseph Celestino, Christopher Terranova, Hannah C. Beird, Curtis Gumbs, Latasha Little, Tri Nguyen, Rebecca Thornton, Samantha Tippen, Jianhua Zhang, Karen H. Lu, David M. Gershenson, Kunal Rai, Russell R. Broaddus, P. Andrew Futreal   +14 more
doaj   +1 more source

TP53 and KMT2D mutations associated with worse prognosis in peripheral T‐cell lymphomas

Cancer Medicine
There are limited studies on mutation profiling for Peripheral T‐cell lymphomas (PTCL) in the Chinese population. We retrospectively analyzed the clinical and genetic landscape of 66 newly diagnosed Chinese patients.
Lingling Wang, Lei Yang, F. Guan, Jing Chen, Yuexin Cheng, Yuqing Miao, Jingsong He, Z. Cai, He Huang, Yi Zhao   +9 more
semanticscholar   +1 more source