Results 91 to 100 of about 5,232 (224)

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene [PDF]

, 2021
Richard J.L.F. Lemmers, Patrick J. van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne J.M. Goselink, Stephen J. Tapscott, Nicol C. Voermans, Rabi Tawil, George W. Padberg, Baziel G.M. van Engelen, Silvère M. van der Maarel   +12 more
openalex   +1 more source

Spatially Resolved Profiling of Compartmentalized Muscle and Brain Inflammation

European Journal of Immunology, Volume 55, Issue 12, December 2025.
This review summarizes emerging spatially resolved multi‐omics approaches revealing organized cell–cell interactions in skeletal muscle and brain inflammation. These tools uncover radiating molecular programs and niche‐specific immunopathology that shape cellular reactivity and vulnerability.
Thorge Dobbertin, Lucas Schirmer
wiley   +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

"Society of Hematologic Oncology (SOHO) State of the Art Updates and Next Questions"-Treatment of ALL. [PDF]

, 2018
The outcome of adult acute lymphoblastic leukemia (ALL) has substantially improved by adopting pediatric-inspired regimens, and approximately half of the patients are nowadays cured.
Chiaretti, S, Hoelzer, D, Jabbour, E
core   +1 more source

Deciphering Sequence Determinants of Zygotic Genome Activation Genes: Insights From Machine Learning and the ZGAExplorer Platform

Cell Proliferation, Volume 58, Issue 12, December 2025.
We compiled a comprehensive set of ZGA genes from mice, humans, pigs, bovines and goats, demonstrating the cross‐species conservation. An interpretable machine learning model, based on k‐mer core features, accurately predicted ZGA genes, revealing abundant and intricate six‐base sequence‐specific patterns and potential binding TFs.
Jixiang Xing, Siqi Yang, Yuchao Liang, Pengwei Hu, Bingjie Dai, Hanshuang Li, Yongqiang Xing, Yongchun Zuo   +7 more
wiley   +1 more source

Mutations in CIC and IDH1 cooperatively regulate 2-hydroxyglutarate levels and cell clonogenicity [PDF]

, 2014
The majority of oligodendrogliomas (ODGs) exhibit combined losses of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH1-R132H or IDH2-R172K).
Blough, Michael D., Cairncross, J. Gregory, Chan, Jennifer A., Chan, Susanna, Chen, Vincent, Chittaranjan, Suganthi, Firme, Marlo, Go, Nancy E., Gorski, Sharon M., Marra, Marco A., Moradian, Annie, Morin, Gregg B., Song, Jungeun, Yang, Cindy, Yang, Kevin C., Yip, Stephen   +15 more
core   +2 more sources

Two‐way inhibition of PAX5 transcriptional activity by PAX5::CBFA2T3

FEBS Open Bio, Volume 15, Issue 11, Page 1789-1799, November 2025.
PAX5::CBFA2T3 (PAX5‐C) is a fusion protein of the B‐cell transcription factor, PAX5, and is found in B‐cell ALL. We propose a putative model of two‐way inhibition of PAX5 transcriptional activity by PAX5‐C. There are two ways of repression by PAX5‐C: DNA‐binding‐dependent way and HDAC‐dependent way, with either being sufficient for the repression. HDAC
Reina Ueno, Aki Terasaki, Yuiko Imai, Yuri Kimura, Yuna Kojima, Misa Irie, Koya Odaira, Mina Noura, Shuichi Okamoto, Takahiko Yasuda, Shinobu Tsuzuki, Hitoshi Kiyoi, Fumihiko Hayakawa   +12 more
wiley   +1 more source

Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures

Skeletal Muscle, 2017
Background Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle.
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G. Miller   +3 more
doaj   +1 more source

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

Skeletal Muscle, 2020
Background All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the expression of which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology ...
Takako I. Jones, Guo-Liang Chew, Pamela Barraza-Flores, Spencer Schreier, Monique Ramirez, Ryan D. Wuebbles, Dean J. Burkin, Robert K. Bradley, Peter L. Jones   +8 more
doaj   +1 more source

Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism

Cell Death and Disease, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a cause of profound disability.
Justin Cohen, Shushu Huang, Katherine E. Koczwara, Kristen T. Woods, Vincent Ho, Keryn G. Woodman, Jack L. Arbiser, Katelyn Daman, Monkol Lek, Charles P. Emerson, Alec M. DeSimone   +10 more
doaj   +1 more source