Results 101 to 110 of about 5,041 (194)

Therapeutic Strategy and Clinical Path of Facioscapulohumeral Muscular Dystrophy: Review of the Current Literature

Applied Sciences
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant genetic disease, which is caused by the mistaken expression of double homeobox protein 4 protein 4 (DUX4) in skeletal muscle.
Qi Xie, Guangmei Ma, Yafeng Song
doaj   +1 more source

Caveolar proteins : putative FSHD biomarkers

, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin opening and DNA hypomethylation at the D4Z4 repeat array in the 4q35 subtelomeric region.
Leroy, Baptiste, Wattiez, Ruddy, Wauters, Armelle, Laval, Steven, Belayew, Alexandra, Tassin, Alexandra   +5 more
core  

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

, 2020
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve analysis of high molecular weight (
Jones, Takako I., McKenna-Yasek, Diane, King, Oliver D., Quinn, Colin, Salameh, Johnny S., Sapp, Peter C., Kang, Peter B., Jones, Peter L., Yan, Chi   +8 more
core   +1 more source

Фамилен, генетично верифициран случай на фациоскапулохумерална мускулна дистрофия с ранно начало

Българска неврология, 2020
Фациоскапулохумералната мускулна дистрофия е третата най-често срещана форма на мускулна дистрофия след Duchenne мускулна дистрофия и миотонична мускулна дистрофия с честота 1:15 000-20 000 здрави хора. От генетична гледна точка се различават 2 подтипа –
Maya Koleva, V. Bojinova, D. Bogdanova, T. Todorov, A. Todorova   +4 more
doaj  

Medical Claim Costs of Facioscapulohumeral Muscular Dystrophy in the United States

ClinicoEconomics and Outcomes Research
Amanda A Hill,1 June Kinoshita,1 Mariefel Nicole Deypalan,2 Marina Kolocha,3 Man Hung,4 Eric Hon,4 William Sarraille,5 Wayne Winegarden,6 Tanyatorn Ghanjanasak,7 Jamshid Arjomand1 1FSHD Society, Randolph, MA, USA; 2Independent Researcher, Iligan City ...
Hill AA, Kinoshita J, Deypalan MN, Kolocha M, Hung M, Hon E, Sarraille W, Winegarden W, Ghanjanasak T, Arjomand J   +9 more
doaj  

Facioscapulohumeral Muscular Dystrophy (FSHD)

This is an introduction to Facioscapulohumeral Muscular Dystrophy (FSHD) and its causes, presentation, diagnosis, treatment, and ongoing related research.FSHD Global Research Foundation. (n.d.). What is FSHD? Retrieved from https://fshdglobal.org/what-is-
Rohith Erukulla; Brooke Johnson
core  

FSHD and OPMD: Deregulation of IGF2BP1-mRNP components during the differentiation of FSHD muscle cells. [PDF]

, 2017
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the misexpression of DUX4. Its homologue DUX4c is also induced in FSHD muscles. In contrast to DUX4, DUX4c is expressed in all myoblasts and is proposed to play a role in normal muscle ...
Castella, Sandrine, Goudji, Cédrick, Larcher, Jean-Christophe, Coppée, Frédérique, Ansseau, Eugénie, Sciot, Maëlle, Belayew, Alexandra   +6 more
core  

The DUX4 model of FSHD.

, 2016
(A) A model of the human system, which represents a summary of published work relevant to understanding FRG1 and DUX4 in relation to FSHD supplied to aid the reader with context, showing the FSHD-associated human chromosome 4q35 D4Z4 macrosatellite in ...
Megan Parilla (2550397), Takako I. Jones (2550391), Peter L. Jones (2550394)   +2 more
core   +1 more source

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

Stem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa, Francesca Vacante, Lingyun Xu, Gabriela Canel-Rivero, John W. Day, Joseph C. Wu   +5 more
doaj   +1 more source

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population

, 2014
BACKGROUND: A hallmark of muscular dystrophies is the replacement of muscle by connective tissue. Muscle biopsies from patients severely affected with facioscapulohumeral muscular dystrophy (FSHD) may contain few myogenic cells.
Wagner, Kathryn, Shay, Jerry W., Emerson, Charles P. Jr., Stadler, Guido, Wright, Woodring E., Robin, Jerome D., Chen, Jennifer Cj   +6 more
core   +1 more source