Results 71 to 80 of about 3,790 (193)

386. Toxicology for DUX4-Targeted MicroRNAs [PDF]

Molecular Therapy, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder affecting 1 in 7500. Symptoms typically arise in young adulthood and most patients show clinical features before age 30. FSHD is characterized by progressive wasting and weakness of facial and shoulder-girdle muscles, though all skeletal muscle can be affected.
Lindsay M. Wallace, Jacqueline S. Domire, Danielle A. Griffin, Louise R. Rodino-Klapac, Scott Q. Harper   +4 more
openaire   +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

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

CEBP and ZEB2 alterations define three distinct subtypes of B‐cell acute lymphoblastic leukemia

HemaSphere, Volume 10, Issue 6, June 2026.
Abstract B‐cell acute lymphoblastic leukemia (B‐ALL) is a heterogeneous malignancy driven by diverse genetic alterations. Among these, CEBP family genes and ZEB2 are recurrently involved, yet the spectrum of genomic mechanisms and their clinical impact remain incompletely defined.
Rathana Kim, Marie Passet, Hugo Bergugnat, Loïc Vasseur, Thibaut Leguay, Françoise Huguet, Mathilde Hunault, Tom Sexton, Melha Benlebna, Julie Renard, Emmanuel Raffoux, Cédric Pastoret, Cathie Erb, Laureen Chat, Eric Delabesse, Stéphanie Gachet, Caroline Bonmati, Marie Balsat, Thorsten Braun, Audrey Bidet, Nicolas Duployez, Carlos Graux, Yves Chalandon, Philippe Rousselot, Patrice Chevallier, Jean Soulier, Véronique Lhéritier, Hervé Dombret, Nicolas Boissel, Emmanuelle Clappier   +29 more
wiley   +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

Interrogating Dux4 Mrna 3′ End Processing [PDF]

, 2016
Double Homeobox 4, Dux4, is the leading candidate gene for Facioscapulohumeral Dystrophy (FSHD). FSHD is the third most common muscular dystrophy, and is characterized by progressive muscle weakness primarily in the upper body.
Peart, Natoya J
core   +1 more source

Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).

PLoS ONE, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. Epigenetic changes in the chromosome 4q35 region linked to both forms of FSHD lead to a relaxation of repression and increased somatic expression of DUX4-fl ...
Takako I Jones, Megan Parilla, Peter L Jones   +2 more
doaj   +1 more source

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

eLife, 2019
DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). DUX4’s transcriptional activity has been extensively characterized, but the DUX4-induced proteome remains undescribed.
Sujatha Jagannathan, Yuko Ogata, Philip R Gafken, Stephen J Tapscott, Robert K Bradley   +4 more
doaj   +1 more source

Nanopore direct RNA sequencing and the epitranscriptome: Advances in mapping native RNA landscapes

iMeta, Volume 5, Issue 3, June 2026.
Nanopore direct RNA sequencing advances transcriptomics by capturing full‐length transcripts and multiple RNA modifications; this review details its principles, workflows, tools, applications, challenges, and future research potential. Abstract Nanopore direct RNA sequencing (DRS) has transformed transcriptomics by enabling single‐molecule, long‐read ...
Tianyuan Zhang, Jia Li, Chao Tang, You Wu, Hao Wu, Xi‐Tong Zhu, Ziyang Luo, Hang Qin, Lishan Ding, Yu Zeng, Shiou Yih Lee, Xiaotao Shen, Shiwen Gao, Zhaoyang Tian, Qian Tang, Mian Li, Muhammad Tahir Ul Qamar, Yang Dong, Komivi Dossa, Yaxuan Zhang, Hu Chen, Sanqi An, Xiang Yu, Lu Chen, Dingjie Wang, Shengli Li, Ling‐Ling Chen, Yanqiang Li   +27 more
wiley   +1 more source

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