Results 91 to 100 of about 3,423 (190)

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

Single Nucleotide Polymorphism Microarray Analysis Unveils Copy‐Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B‐Cell Precursor Acute Lymphoblastic Leukemia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) is a prevalent pediatric hematologic malignancy characterized by diverse chromosomal aberrations that significantly influence its prognosis. This study aimed to comprehensively characterize the genomic landscape of childhood BCP‐ALL in a cohort of 55 Malaysian patients.
Nor Soleha Mohd Dali, Nursaedah Abdullah Aziz, Muhamad Farid Zulkifle, Durar Aqilah Zamri, Nor Rizan Kamaluddin, Seoh‐Leng Yeoh, Betty Lee‐Sue Ho, Nazzlin Dizana Din, Azly Sumanty Ab Ghani, Wan Amal Hayati Wan Hassan, Zubaidah Zakaria, Ezalia Esa, Yuslina Mat Yusoff   +12 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

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 310-323, February 2026.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, Volume 8, Issue 2, February 2026.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

The DUX4 cytotoxic cascade, and CRISPR mitigation methods

, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is a muscle degenerative disease that disproportionally affects the muscles of the face, shoulder girdle and upper arms.
Ashoti, Ator Rafael Odisho
core  

DUX4 orchestrates translational reprogramming through broad inhibition of translation concurrent with de novo translation of DUX4 target mRNAs.

, 2023
(A) Differential RNA-seq analysis of high polysome fractions (high/high). Volcano plot showing log2 fold-change of DUX4 pulse+IFNγ harvested at 68 hours versus IFNγ (significance defined as basemean>50, |log2FC>1|, p-adjS4 Data.
Andrew A. Smith (17041553), Sujatha Jagannathan (294058), Chao-Jen Wong (2743033), Amy E. Campbell (3820846), Danielle C. Hamm (4693915), Sean R. Bennett (17041550), Cynthia L. Wladyka (16011824), Stephen J. Tapscott (10287250), Andrew C. Hsieh (16011836), Ellen M. Paatela (17041547)   +9 more
core   +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 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

Image1_Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy.TIF

, 2022
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Huascar Pedro Ortuste Quiroga (13739194), Massimo Ganassi (9078769), Magalie Reynaud (13739191), Nicolas Figeac (5754008), Peter S. Zammit (11100780)   +4 more
core   +1 more source