Results 31 to 40 of about 5,041 (194)

Genetic and epigenetic contributors to FSHD [PDF]

Current Opinion in Genetics & Development, 2015
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscle disorder characterized by distinct chromatin changes including DNA hypomethylation of the D4Z4 macrosatellite repeat array on a disease-permissive 4qA allele and aberrant expression of the D4Z4-embedded DUX4 retrogene in skeletal muscle.
Daxinger, L., Tapscott, S.J., Maarel, S.M. van der   +2 more
openaire   +3 more sources

Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models

, 2023
Objective: Facioscapulohumeral muscular dystrophy (FSHD) is caused by abnormal de-repression of the myotoxic transcription factor DUX4. Although the transcriptional targets of DUX4 are known, the regulation of DUX4 protein and the molecular consequences ...
Freitas, Michael A, Emerson, Charles P. Jr., Saad, Nizar Y, Rashnonejad, Afrooz, Eidahl, Jocelyn O, Wallace, Lindsay M, Branson, Owen E, Daman, Katelyn, Choudury, Sarah G, Harper, Scott Q, Hoover, Michael E, Knox, Renatta N, Zhang, Liwen, Guggenbiller, Matthew J   +13 more
core   +1 more source

Smartphone and Wearable Sensors for the Estimation of Facioscapulohumeral Muscular Dystrophy Disease Severity: Cross-sectional Study

JMIR Formative Research, 2023
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disease. Its slow and variable progression makes the development of new treatments highly dependent on validated biomarkers that can quantify ...
Ahnjili Zhuparris, Ghobad Maleki, Ingrid Koopmans, Robert J Doll, Nicoline Voet, Wessel Kraaij, Adam Cohen, Emilie van Brummelen, Joris H De Maeyer, Geert Jan Groeneveld   +9 more
doaj   +1 more source

Genotype-phenotype correlations in FSHD [PDF]

BMC Medical Genomics, 2019
Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and FSHD2 (MIM: 158901), which have different genetic causes but are phenotypically ...
Nikolay Zernov, Mikhail Skoblov
openaire   +3 more sources

Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2014
Telomeres may regulate human disease by at least two independent mechanisms. 1) Replicative senescence occurs once short telomeres generate DNA damage signals that produce a barrier to tumor progression.
Shay, Jerry W., Rahimov, Fedik, King, Oliver D., Emerson, Charles P. Jr., Chen, Jennifer C. J., Wagner, Kathryn R., Stadler, Guido, Wright, Woodring E., Robin, Jerome D., Emerson, Charles P.   +9 more
core   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies. [PDF]

Muscle Nerve
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
Wilks AW, Chahin N.
europepmc   +2 more sources

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

The Facioscapulohumeral Muscular Dystrophy Rasch‐Built Overall Disability Scale (FSHD‐RODS): Longitudinal Assessment of a Disease‐Specific Patient Reported Outcome [PDF]

European Journal of Neurology
Sjan Teeselink, Sanne C C Vincenten, Nicol C․ Voermans   +2 more
exaly   +2 more sources

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

Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Pini J, Martinuzzi E, Dhifallah S, Slioui A, Puma A, Villa L, Cavalli M, Ezaru A, Garcia J, Gambella M, Torre F, Pavan LJ, Glaichenhaus N, Sacconi S.   +13 more
europepmc   +2 more sources