Results 101 to 110 of about 7,807 (220)

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. [PDF]

PLoS Genetics, 2010
Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of ...
Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B Ware, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller   +10 more
doaj   +1 more source

snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis [PDF]

, 2023
Dongxu Zheng, Annelot Wondergem, Susan L. Kloet, Iris M. Willemsen, Judit Balog, Stephen J. Tapscott, Ahmed Mahfouz, Anita van den Heuvel, Silvère M. van der Maarel   +8 more
openalex   +1 more source

Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Respiratory involvement is a comorbidity that should not be overlooked in clinical practice in facioscapulohumeral muscular dystrophy type 1 (FSHD1), with a reported association for severe disease outcomes such as wheelchair dependency.
Xiang Xu, Fuze Zheng, Xin Lin, Liangliang Qiu, Long Chen, Jing Xu, Li Kang, Jie Chen, Liulei Wu, Ying Zheng, Minghui Zeng, Xiaodan Lin, Qifang He, Li Chen, Feng Lin, Ning Wang, Minting Lin, Guorong Lyu, Zhiqiang Wang   +18 more
wiley   +1 more source

Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]

Türk Patoloji Dergisi
Objective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL, Dilek BAHAR, Özlem EKINCI, Öznur TOKTA, Yusuf OZKUL, Sibel BERKER KARAUZUM   +5 more
doaj   +1 more source

Izomdystrophiák differenciál-diagnosztikai vizsgálata molekuláris genetikai, valamint immunhisztokémiai és immunoblot analízisek segítségével = Differential diagnostic study of muscle dystrophies by molecular genetic, immunohystochemical and Western-blot analyses [PDF]

, 2007
A DMD/BMD betegségben célul tűzték ki a cDNS próbák alkalmazását a hordozósági státusz vizsgálatára és a deléciók pontos méretének meghatározására. Az újonnan bevezetett MLPA módszer segítségével a teljes dystrophin gén feltérképezésére, bizonyos pont ...
Balog, Judit, Hajdu, Krisztina, Herczegfalvi, Ágnes, Karcagi, Veronika, Kékesdyné dr. Siska, Éva, Pikó, Henriett, Tímár, László, Tóth, András   +7 more
core  

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources

Therapeutic Strategies Targeting DUX4 in FSHD [PDF]

, 2020
Laura Le Gall, Eva Sidlauskaite, Virginie Mariot, Julie Dumonceaux   +3 more
openalex   +1 more source

Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI [PDF]

, 2022
Michelle Mellion, Per Widholm, Markus Karlsson, André Ahlgren, Rabi Tawil, Kathryn R. Wagner, Jeffrey Statland, Leo H. Wang, Perry B. Shieh, Baziel G.M. van Engelen, Joost Kools, Lucienne Ronco, Adefowope Odueyungbo, John Jiang, Jay J. Han, Maya N. Hatch, Jeanette Towles, Olof Dahlqvist Leinhard, Diego Cadavid   +18 more
openalex   +1 more source

From fibro/adipogenic progenitors to adipocytes: Understanding adipogenesis in muscle degeneration for disease modulation

The Journal of Physiology, Volume 603, Issue 19, Page 5273-5297, October 1, 2025.
Abstract figure legend Fibro/adipogenic progenitors (FAPs) are cells resident in the muscle (skeletal and cardiac) niche. FAPs are active participants in the process of muscle degeneration in cardiovascular and neuromuscular diseases. Here, the accumulation of fatty and fibrous tissue is a hallmark.
Elisa Villalobos, Priyanka Mehra, Jordi Diaz‐Manera   +2 more
wiley   +1 more source

Analyzing Pain Medication Use and Adherence in Patients with Myotonic Dystrophy and Facioscapulohumeral Dystrophy [PDF]

, 2015
Objectives: Myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) are two of the most common muscular dystrophies in adults. It has been reported that patients with these two disorders may suffer from pain and inadequate pain management.
Fitzgerald, Bryan, Parkhill, Amy L.
core   +1 more source