Results 81 to 90 of about 1,867 (154)

Caveolar proteins : putative FSHD biomarkers [PDF]

, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste, Wattiez, Ruddy, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +5 more
core  

Melt Electrowriting High Resolution Poly(ethylene‐co‐vinyl acetate) Scaffolds for Soft Tissue Engineering

Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.
This work pioneers melt electrowriting (MEW) of polyethylene vinyl acetate (PEVA) to fabricate ultra‐compliant, high‐resolution scaffolds. By integrating microscale precision with soft tissue‐like biomechanics, PEVA overcomes stiffness‐driven limitations of conventional MEW polymers, establishing a mechanically biomimetic platform for soft tissue ...
Finn Snow, Darcy De Rauch, Lilith Mabel Caballero Aguilar, Darcy Millett, Jasley Wilding McBride, David R Nisbet, Magdalena Kita, Elena Pirogova, Robert Michail Ivan Kapsa, Anita Quigley   +9 more
wiley   +1 more source

Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy

Frontiers in Neurology
BackgroundThis study aimed to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) for Serbian patients with facioscapulohumeral muscular dystrophy (FSHD) in order to measure their disease burden.Patients and methodForty-one patients
Branislav Ralic, Noemi Albano, Vanja Viric, Andi Nuredini, Ana Arsic Azanjac, Sonja Rajic, Sonja Rajic, Ana Marjanovic, Rossella Tupler, Chad Heatwole, Stojan Peric, Stojan Peric   +11 more
doaj   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Multi‐Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.
ABSTRACT Background Myofibrillar myopathies (MFM) form a large group of clinically and genetically heterogeneous protein aggregate diseases. We investigated whether a novel quantitative MRI protocol can reveal new aspects of structural and biochemical muscle pathology in three classic MFM subtypes.
Claudius S. Mathy, Lena V. Gast, Christian Holtzhausen, Teresa Gerhalter, Christoph Stuprich, Matthias Türk, Rafael Heiss, Benjamin Marty, Frederik B. Laun, Julia V. Wanschitz, Simon Hametner, Arnd Dörfler, Michael Uder, Tobias Bäuerle, Armin M. Nagel, Rolf Schröder   +15 more
wiley   +1 more source

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.

PLoS Genetics, 2020
FSHD is characterized by the misexpression of DUX4 in skeletal muscle. Although DUX4 upregulation is thought to be the pathogenic cause of FSHD, DUX4 is lowly expressed in patient samples, and analysis of the consequences of DUX4 expression has largely ...
Shan Jiang, Katherine Williams, Xiangduo Kong, Weihua Zeng, Nam Viet Nguyen, Xinyi Ma, Rabi Tawil, Kyoko Yokomori, Ali Mortazavi   +8 more
doaj   +1 more source

Therapeutic Gene Editing: DNA Repair Pathways, Emerging Editors, and Clinical Progress

iNew Medicine, Volume 2, Issue 1, March 2026.
ABSTRACT The field of gene editing has evolved rapidly over the past decade, progressing from programmable zinc‐finger nucleases (ZFNs) and transcription activator‐like effector nucleases (TALENs) to the widespread adoption of CRISPR‐Cas systems. First‐generation editors catalyzed genome engineering by introducing targeted double‐strand breaks (DSBs ...
Li‐Kuang Tsai, Youcai Xiong, Dongqi Liu, Dongshan Yang, Jifeng Zhang, Jie Xu, Renzhi Han, Y. Eugene Chen   +7 more
wiley   +1 more source

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing [PDF]

, 2020
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve analysis of high molecular weight (
Jones, Takako I., McKenna-Yasek, Diane, King, Oliver D., Quinn, Colin, Salameh, Johnny S., Sapp, Peter C., Kang, Peter B., Jones, Peter L., Yan, Chi   +8 more
core   +2 more sources

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

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source