Results 71 to 80 of about 2,593 (166)

SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy

Skeletal Muscle
Background Facioscapulohumeral muscular dystrophy (FSHD) is a common and progressive muscle wasting disease that is characterized by muscle weakness often first noticed in the face, the shoulder girdle and upper arms before progressing to the lower limb ...
Amelia Fox, Jonathan Oliva, Rajanikanth Vangipurapu, Francis M. Sverdrup   +3 more
doaj   +1 more source

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

eLife, 2018
The DUX4 transcription factor is encoded by a retrogene embedded in each unit of the D4Z4 macrosatellite repeat. DUX4 is normally expressed in the cleavage-stage embryo, whereas chromatin repression prevents DUX4 expression in most somatic tissues ...
Amy E Campbell, Sean C Shadle, Sujatha Jagannathan, Jong-Won Lim, Rebecca Resnick, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott   +7 more
doaj   +1 more source

Cellular and animal models for facioscapulohumeral muscular dystrophy

Disease Models & Mechanisms, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek   +3 more
doaj   +1 more source

Clinical Characteristics and Prognostic Risk Factors for Pediatric B‐Cell Lymphoblastic Lymphoma: A Multicenter Retrospective Cohort Study for China Net Childhood Lymphoma

Pediatric Blood &Cancer, Volume 73, Issue 4, April 2026.
ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu, Jian Wang, Ling Jin, Yanlong Duan, Fu Li, Yueping Jia, Leping Zhang, Xiaojun Yuan, Wei Liu, Ying Liu, Ansheng Liu, Mincui Zheng, Yunpeng Dai, Lian Jiang, Lirong Sun, Xiaowen Zhai, Rong Liu, Chunju Zhou, Zifen Gao, Yonghong Zhang, Xiaomei Yang   +20 more
wiley   +1 more source

WEE1 kinase is a therapeutic vulnerability in CIC-DUX4 undifferentiated sarcoma

JCI Insight, 2022
CIC-DUX4 rearrangements define an aggressive and chemotherapy-insensitive subset of undifferentiated sarcomas. The CIC-DUX4 fusion drives oncogenesis through direct transcriptional upregulation of cell cycle and DNA replication genes.
Rovingaile Kriska M. Ponce, Nicholas J. Thomas, Nam Q. Bui, Tadashi Kondo, Ross A. Okimoto   +4 more
doaj   +1 more source

IntegrateALL: An end‐to‐end RNA‐seq analysis pipeline for multilevel data extraction and interpretable subtype classification in B‐precursor ALL

HemaSphere, Volume 10, Issue 4, April 2026.
Abstract Transcriptome sequencing (RNA‐seq) is emerging as a diagnostic standard for B‐cell precursor acute lymphoblastic leukemia (B‐ALL). Expression‐based classifiers reach ~95% accuracy, but reproducible end‐to‐end solutions that also integrate transcript‐derived genomic drivers and quantitative virtual karyotyping are lacking.
Nadine Wolgast, Thomas Beder, Mayukh Mondal, Wencke Walter, Stephan Hutter, Sonja Bendig, Jan Kässens, Björn‐Thore Hansen, Katharina Iben, Sebastian Wolf, Anjali Cremer, Malwine Barz, Martin Neumann, Nicola Gökbuget, Claudia Haferlach, Monika Brüggemann, Claudia D. Baldus, Alina M. Hartmann, Lorenz Bastian   +18 more
wiley   +1 more source

EGR Proteins Mediate Interferon‐Independent Anti‐HSV‐1 Responses Through Viral and Host Targets

Advanced Science, Volume 13, Issue 13, 3 March 2026.
Early antiviral responses are typically mediated by interferons. However, during HSV‐1 infection, host early growth response (Egr) genes, which are not interferon‐stimulated genes, are quickly induced by viral protein ICP0. EGR proteins, in turn, suppress viral lytic infection by activating viral latency‐associated (LAT) and host immune regulatory ...
Shuaishuai Wang, Fujun Hou, Xunuo Jin, Yuhang Xiang, Dongli Pan   +4 more
wiley   +1 more source

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

PLoS Genetics, 2013
The human double-homeodomain retrogene DUX4 is expressed in the testis and epigenetically repressed in somatic tissues. Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that decrease the epigenetic repression of DUX4 in somatic ...
Janet M Young, Jennifer L Whiddon, Zizhen Yao, Bhavatharini Kasinathan, Lauren Snider, Linda N Geng, Judit Balog, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott   +9 more
doaj   +1 more source

TWIST2 high expression defines a novel subtype of B‐cell precursor acute lymphoblastic leukemia

HemaSphere, Volume 10, Issue 4, April 2026.
Tao Zeng, Ling Zhang, Wenxin Yin, Cuiping You, Henrik Lilljebjörn, Qian Wang, Weina Zhang, Xiaotian Ji, Yuliang Wang, Yongjing Liu, Yali Xie, Xiaoxi Feng, Xiang Zhang, Hua Jiang, Thoas Fioretos, Gang Xiao, Jie Jin, Suning Chen, Jinyan Huang   +18 more
wiley   +1 more source

DUX4 is a common driver of immune evasion and immunotherapy failure in metastatic cancers

eLife
Cancer immune evasion contributes to checkpoint immunotherapy failure in many patients with metastatic cancers. The embryonic transcription factor DUX4 was recently characterized as a suppressor of interferon-γ signaling and antigen presentation that is ...
Jose Mario Bello Pineda, Robert K Bradley   +1 more
doaj   +1 more source