Results 61 to 70 of about 5,789 (161)

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics [PDF]

, 2016
Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of antisense phosphorodiamidate morpholino oligonucleotides to suppress DUX4 expression and ...
Clayton, Nicholas P., Zhang, Yuanfan, King, Oliver D., Emerson, Charles P. Jr., Chen, Jennifer C. J., Wentworth, Bruce M., Wagner, Kathryn R., Spencer, Carrie   +7 more
core   +1 more source

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

, 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

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. [PDF]

PLoS ONE, 2009
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed ...
Eugénie Ansseau, Dalila Laoudj-Chenivesse, Aline Marcowycz, Alexandra Tassin, Céline Vanderplanck, Sébastien Sauvage, Marietta Barro, Isabelle Mahieu, Axelle Leroy, India Leclercq, Véronique Mainfroid, Denise Figlewicz, Vincent Mouly, Gillian Butler-Browne, Alexandra Belayew, Frédérique Coppée   +15 more
doaj   +1 more source

Gene expression during normal and FSHD myogenesis

BMC Medical Genomics, 2011
Background Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene, DUX4, that can encode a protein containing two homeodomains.
Sowden Janet, Chittur Sridar V, Baribault Carl, Lacey Michelle, Chang Shao-Chi, Tsumagari Koji, Tawil Rabi, Crawford Gregory E, Ehrlich Melanie   +8 more
doaj   +1 more source

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. [PDF]

PLoS Genetics, 2013
Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts.
Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, Simon Denadai, Marie Lebossé, Stephane Roche, Linda Geng, Frederique Magdinier, Shahram Attarian, Rafaelle Bernard, Flavio Maina, Nicolas Levy, Françoise Helmbacher   +15 more
doaj   +1 more source

Measuring Nutrition Security Using the Consumer Food Data System Datasets

Applied Economic Perspectives and Policy, Volume 48, Issue 4, Page 1089-1100, September 2026.
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

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

, 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

The history of research on facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj  

Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. [PDF]

PLoS ONE, 2012
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions.
Giorgio Tasca, Mario Pescatori, Mauro Monforte, Massimiliano Mirabella, Elisabetta Iannaccone, Roberto Frusciante, Tiziana Cubeddu, Francesco Laschena, Pierfrancesco Ottaviani, Enzo Ricci   +9 more
doaj   +1 more source

Caveolar proteins: putative FSHD biomarkers?

, 2013
Facioscapulohumeral dystrophy (FSHD) is a degenerative disease of skeletal muscle caused by chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste, Wattiez, Ruddy, Coppée, Frédérique, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +6 more
core   +3 more sources