Results 31 to 40 of about 1,867 (154)

The ratios of estradiol and progesterone to testosterone influence the severity of facioscapulohumeral muscular dystrophy

Neurological Sciences and Neurophysiology, 2020
Background: Facioscapulohumeral muscular dystrophy (FSHD) occurs as a consequence of genetic deletion of D4Z4 repeats on chromosome 4q35. Onset of FSHD is earlier in males, suggesting that testosterone may trigger the disease.
Ceren Hangul, Selen Bozkurt, Ugur Bilge, Sebahat Ozdem, Hasan Altunbas, Hilmi Uysal, Filiz Koc, Sibel Berker Karauzum   +7 more
doaj   +1 more source

DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation [PDF]

, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disorder linked to ectopic expression of DUX4. However, DUX4 is notoriously difficult to detect in FSHD muscle cells, while DUX4 target gene expression is an inconsistent biomarker for FSHD ...
Panamarova, Maryna, Banerji, Christopher R.S., Zammit, Peter S.   +2 more
core   +1 more source

Current Therapeutic Approaches in FSHD

Journal of Neuromuscular Diseases, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. Over the last decade, a consensus was reached regarding the underlying cause of FSHD allowing—for the first time—a targeted approach to treatment. FSHD is the result of a toxic gain-of-function from de-repression of the DUX4 gene, a gene not normally expressed
Wang, Leo H., Tawil, Rabi
openaire   +3 more sources

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35.
Kunkel, Louis M., Arashiro, Patricia, Eisenberg, Iris, Kho, Alvin T., Cerqueira, Antonia M. P., Canovas, Marta, Verjovski-Almeida, Sergio, Pavanello, Rita C. M., Silva, Helga C. A., Zatz, Mayana   +9 more
core   +2 more sources

A Wagner–Meerwein‐Like Rearrangement Generates a Vinyl Group in the Biosynthesis of the Polychlorinated Lipopeptides Fischerazoles

Angewandte Chemie, EarlyView.
The fischerazoles, unusual cyanobacterial chlorinated lipopeptides are reported. During their biosynthesis, a linear fatty acyl‐acyl carrier protein (ACP) precursor is rearranged through the action of the S‐adenosyl‐methionine (SAM)‐dependent methyltransferase FshF, to generate a pendant vinyl group.
Sandra A. C. Figueiredo, Kathleen Abt, Konrad Viehrig, Peter J. Jervis, Teresa P. Martins, Iñaki Lacomba, Chuhan Li, Daniele Castagnolo, Pedro N. Leão   +8 more
wiley   +2 more sources

Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study [PDF]

, 2017
INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study.
Chagarlamudi, Hema, Wagner, Kathryn, Grosmann, Carla, Shapiro, Jay, Stock, Carly Matichak, Stinson, Nikia, Stoll, Marion, Corbett, Alastair, Bibat, Genila   +8 more
core   +1 more source

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

Skeletal Muscle, 2020
Background All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the expression of which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology ...
Takako I. Jones, Guo-Liang Chew, Pamela Barraza-Flores, Spencer Schreier, Monique Ramirez, Ryan D. Wuebbles, Dean J. Burkin, Robert K. Bradley, Peter L. Jones   +8 more
doaj   +1 more source

Apabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells

Biomedicines, 2023
Facioscapulohumeral dystrophy (FSHD) is a muscle disease caused by inappropriate expression of the double homeobox 4 (DUX4) gene in skeletal muscle, and its downstream activation of pro-apoptotic transcriptional programs.
Christopher D. Sarsons, Dean Gilham, Laura M. Tsujikawa, Sylwia Wasiak, Li Fu, Brooke D. Rakai, Stephanie C. Stotz, Agostina Carestia, Michael Sweeney, Ewelina Kulikowski   +9 more
doaj   +1 more source

MiRNA modulation in FSHD myogenesis. [PDF]

, 2014
A) DEseq analysis of miRNAs differentially expressed in FSHD myotubes vs FSHD myoblasts (FSHD differentiation).
Raffaella Meneveri (25726), Giulia Soldà (393631), Francesca Roma (640472), Raffaella Picco (640471), Stéphanie François (5660794), Enrico Ginelli (25727), Veronica Colangelo (640470)   +6 more
core   +1 more source

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

Orphanet Journal of Rare Diseases, 2021
Background The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives.
Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler   +8 more
doaj   +1 more source