Results 91 to 100 of about 5,077 (218)

Control of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Cancer

Trends in Molecular Medicine, 2021
DUX4, a gene encoding a transcription factor involved in early embryogenesis, is located within the D4Z4 subtelomeric repeat on chromosome 4q35. In most healthy somatic tissues, DUX4 is heavily repressed by multiple genetic and epigenetic mechanisms, and its aberrant expression is linked to facioscapulohumeral muscular dystrophy (FSHD) where it has ...
Anna Karpukhina, Eugenia Tiukacheva, Carla Dib, Yegor S. Vassetzky   +3 more
openaire   +3 more sources

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. [PDF]

PLoS ONE, 2015
The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD).
Eugénie Ansseau, Jacqueline S Domire, Lindsay M Wallace, Jocelyn O Eidahl, Susan M Guckes, Carlee R Giesige, Nettie K Pyne, Alexandra Belayew, Scott Q Harper   +8 more
doaj   +1 more source

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C, Fernandez, Karen S, Hardee, Steven, Horvai, Andrew, Shah, Avanthi Tayi, Sweet-Cordero, E Alejandro, Turski, Michelle L   +6 more
core  

Comparative Analysis of a Dual DNA–RNA Panel and a DNA‐Only Panel for Sarcoma: Real‐World Data From a Nationwide Genomic Database

Cancer Science, EarlyView.
Dual DNA–RNA panel with matched tumor–normal testing may improve diagnostic accuracy and inform treatment decisions in the routine clinical management of sarcoma. ABSTRACT Next‐generation sequencing‐based comprehensive cancer genomic profiling is promising in cancer management; however, most studies rely on tumor‐only DNA panels from single ...
Eiji Nakata, Kiichiro Ninomiya, Tatsunori Osone, Daisuke Ennishi, Shuta Tomida, Tomohiro Fujiwara, Toshiyuki Kunisada, Mashu Futagawa, Akira Hirasawa, Shinichi Toyooka, Toshifumi Ozaki   +10 more
wiley   +1 more source

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

eLife, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of the DUX4 retrogene.
Qing Feng, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Robert K Bradley   +6 more
doaj   +1 more source

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

Cell Proliferation, EarlyView.
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

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

Joint single-cell DNA accessibility and protein epitope profiling reveals environmental regulation of epigenomic heterogeneity. [PDF]

, 2018
Here we introduce Protein-indexed Assay of Transposase Accessible Chromatin with sequencing (Pi-ATAC) that combines single-cell chromatin and proteomic profiling. In conjunction with DNA transposition, the levels of multiple cell surface or intracellular
Chang, Howard Y, Chen, Xingqi, Choudhry, Hani, Giaccia, Amato J, Greenleaf, William J, LaGory, Edward L, Litzenburger, Ulrike M, Schep, Alicia N, Wei, Yuning   +8 more
core   +2 more sources

"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

MyomiRs Expression in Limb Girdle Muscular Dystrophy

IUBMB Life, Volume 77, Issue 10, October 2025.
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri, M. T. Altieri, M. T. Rodia, R. Costa, F. Frabetti, G. Cenacchi, G. Sabbioni, M. Borgatti   +7 more
wiley   +1 more source