Results 21 to 30 of about 1,867 (154)

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

Redox Biology, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD ...
Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse   +14 more
doaj   +1 more source

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD [PDF]

, 2015
Background: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2).
Winston, Jincy, Williams, Maggie, Martin, RL, Smith, D, Martin, Rebecca L., Mayes, MB, Morgan, Taniesha, Cooper, DN, Winston, J, Kleinjan, DA, Kamat, MA, Buxton, Daniel S., Kleinjan, Dirk A., Upadhyaya, Meena, Buxton, DS, Cooper, David Neil, Morgan, T, Williams, M, Chuzhanova, N, Smith, Debbie, Mayes, Mary B., Kamat, Mihir Anant, Chuzhanova, Nadia, Upadhyaya, M   +23 more
core   +1 more source

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

EMBO Molecular Medicine, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. FSHD is linked to epigenetic derepression of the subtelomeric D4Z4 macrosatellite at chromosome 4q35.
Christopher R S Banerji, Peter S Zammit
doaj   +1 more source

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

Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD) [PDF]

, 2017
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs.
Vanderplanck, Celine, Harper, Scott Q, Wauters, Armelle, Ansseau, Eugenie, Belayew, Alexandra, Coppee, Frederique   +5 more
core   +2 more sources

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

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

Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy [PDF]

, 2017
INTRODUCTION: In preparation for future clinical trials, we determined the reliability, relationship to measures of disease severity, and consistency across sites of the 6 Minute Walk Test (6MWT) in patients with facioscapulohumeral muscular dystrophy ...
Grosmann, Carla, Heatwole, Chad, Stinson, Nikia, Matichak Stock, Carly, Wagner, Kathryn R., Statland, Jeffrey M., Eichinger, Katy, FSHD Clinical Trials Research Network, Tawil, Rabi, Heininger, Susanne   +9 more
core   +1 more source

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene [PDF]

, 2021
Background: Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles.
Goselink, R., Voermans, N.C., Tawil, R., Tapscott, S.J., Zidar, J., Padberg, G.W.A.M., Blatnik, A., Engelen, B.G.M. van, Maarel, S.M. van der, Henderson, D., Vliet, P.J. van der, Lemmers, R.J.L.F., Balog, J.   +12 more
core   +2 more sources