Results 41 to 50 of about 1,867 (154)

Respiratory pattern in a FSHD pediatric population [PDF]

Respiratory Medicine, 2017
Item does not contain ...
Kernebeek, C.R. van, Seijger, C.G., Goselink, R.J.M., Heijdra, Y.F., Engelen, B.G.M. van   +4 more
openaire   +3 more sources

The FSHD atrophic myotube phenotype is caused by DUX4 expression. [PDF]

PLoS ONE, 2011
BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene.
Céline Vanderplanck, Eugénie Ansseau, Sébastien Charron, Nadia Stricwant, Alexandra Tassin, Dalila Laoudj-Chenivesse, Steve D Wilton, Frédérique Coppée, Alexandra Belayew   +8 more
doaj   +1 more source

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35.
Rahimov, Fedik, Kunkel, Louis M., King, Oliver D., Emerson, Charles P. Jr., Wagner, Kathryn R., Leung, Doris G., Bibat, Genila M.   +6 more
core   +1 more source

Emerging preclinical animal models for FSHD [PDF]

Trends in Molecular Medicine, 2015
Facioscapulohumeral dystrophy (FSHD) is a unique and complex genetic disease that is not entirely solved. Recent advances in the field have led to a consensus genetic premise for the disorder, enabling researchers to now pursue the design of preclinical models.
Lek, Angela, Rahimov, Fedik, Jones, Peter L., Kunkel, Louis M.   +3 more
openaire   +3 more sources

Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disease, with an epigenetic basis linked to contractions or hypomethylation of the chromosome 4q subtelomere.
Emerson, Charles P. Jr., Himeda, Charis
core   +1 more source

Measuring Nutrition Security Using the Consumer Food Data System Datasets

Applied Economic Perspectives and Policy, EarlyView.
ABSTRACT Nutrition security is an emerging concept lacking a consensus definition, conceptualization, or standardized measure. This perspectives manuscript synthesizes findings from two previously published analyses to assess the feasibility of using available measures of key dimensions of nutrition security from two Consumer Food Data System (CFDS ...
Vibha Bhargava, Jung Sun Lee, Travis A. Smith   +2 more
wiley   +1 more source

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? [PDF]

, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness.
Richards, Mark, Upadhyaya, Meena, Thomas, Nicholas Stuart Tudor, Coppée, Frédérique, Belayew, Alexandra   +4 more
core   +4 more sources

Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

eLife, 2016
Facioscapulohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis and is pro-apoptotic. To identify target genes, we over-expressed DUX4 in myoblasts and found that the receptor tyrosine kinase Ret was ...
Louise A Moyle, Eric Blanc, Oihane Jaka, Johanna Prueller, Christopher RS Banerji, Francesco Saverio Tedesco, Stephen DR Harridge, Robert D Knight, Peter S Zammit   +8 more
doaj   +1 more source

Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

PLoS Genetics, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like ...
Mariaelena Pistoni, Lily Shiue, Melissa S Cline, Sergia Bortolanza, Maria Victoria Neguembor, Alexandros Xynos, Manuel Ares, Davide Gabellini   +7 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source