Results 21 to 30 of about 9,445 (236)

On the Role of Delays to Diagnosis of Facioscapulohumeral Muscular Dystrophy [PDF]

International Journal of Biomedicine, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that predominantly affects the facial, scapular, and humeral musculature. Scapular winging is the most common initial finding in patients with FSHD.
Elan Schonfeld, Charulatha P. Nagar
doaj   +1 more source

Baroreflex sensitivity in facioscapulohumeral muscular dystrophy

Physiological Reports, 2022
Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross   +7 more
doaj   +1 more source

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

Disease Models & Mechanisms, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes, Monique Ramirez, Takako I. Jones, Peter L. Jones   +3 more
doaj   +1 more source

Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects

Diagnostics, 2021
The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics.
Taylor Gould, Takako I. Jones, Peter L. Jones   +2 more
doaj   +1 more source

Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis. [PDF]

Nucleic Acids Res
Salsi V, Losi F, Fosso B, Ferrarini M, Pini S, Manfredi M, Vattemi G, Mongini T, Maggi L, Pesole G, Henras AK, Kaufman PD, McStay B, Tupler R.   +13 more
europepmc   +2 more sources

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

Frontiers in Neurology, 2021
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD
Allison Ducharme‐Smith, Stefan Nicolau, C. Anwar A. Chahal, Kirstie Ducharme‐Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St. Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone   +13 more
openalex   +2 more sources

WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy

Nucleic Acids Research, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent neuromuscular disorders. The disease is linked to copy number reduction and/or epigenetic alterations of the D4Z4 macrosatellite on chromosome 4q35 and associated with aberrant ...
Emanuele Mocciaro, R. Giambruno, S. Micheloni, F. Cernilogar, A. Andolfo, Cristina Consonni, M. Pannese, Giulia Ferri, V. Runfola, G. Schotta, D. Gabellini   +10 more
semanticscholar   +1 more source

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

Frontiers in Genetics, 2023
Introduction: Despite the progress made in the study of Facioscapulohumeral Dystrophy (FSHD), the wide heterogeneity of disease complicates its diagnosis and the genotype-phenotype correlation among patients and within families.
C. Strafella, V. Caputo, S. Bortolani, Eleonora Torchia, Domenica Megalizzi, Giulia Trastulli, M. Monforte, L. Colantoni, C. Caltagirone, E. Ricci, G. Tasca, R. Cascella, E. Giardina   +12 more
semanticscholar   +1 more source

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

Neurology: Genetics, 2023
Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common muscular dystrophy in the general population and is characterized by progressive and often asymmetric muscle weakness of the face, upper extremities,
Naga M Guruju, Vanessa Jump, R. Lemmers, S. M. van der Maarel, Ruby Liu, B. Nallamilli, Suresh Shenoy, A. Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Hegde   +11 more
semanticscholar   +1 more source

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data [PDF]

, 2017
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing.
Brouwer, Oebele F., Dorobek, Malgorzata, Erasmus, Corrie E., Goselink, Rianne J. M., Mah, Jean K., Nikolic, Ana, Okkersen, Kees, Padberg, George W., Schreuder, Tim H. A., Tupler, Rossella, Van Engelen, Baziel G. M., Voermans, Nicol C.   +11 more
core   +16 more sources