Results 91 to 100 of about 7,807 (220)
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. [PDF]
PLoS Genetics, 2013 Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts.
Nathalie Caruso +15 more
doaj +1 more source
The Roles of EDA2R in Ageing and Disease
Aging Cell, Volume 24, Issue 12, December 2025.Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington +9 more
wiley +1 more source
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. [PDF]
PLoS Genetics, 2009 Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus.
Alexandre Ottaviani +8 more
doaj +1 more source
Mécanismes et conséquences des mutations [PDF]
, 2005 L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine +3 more
core +1 more source
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD [PDF]
, 2023 Claudia Strafella +12 more
openalex +1 more source
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2335-2348, November 2025.ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald +74 more
wiley +1 more source
Cell Death and Disease, 2022 Muscle-resident non-myogenic mesenchymal cells play key roles that drive successful tissue regeneration within the skeletal muscle stem cell niche. These cells have recently emerged as remarkable therapeutic targets for neuromuscular disorders, although ...
Lorena Di Pietro +13 more
doaj +1 more source
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer [PDF]
, 2017 Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine.
Carta, Claudio +6 more
core +1 more source
The history of research on facioscapulohumeral muscular dystrophy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj
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 +6 more
doaj +1 more source