Results 91 to 100 of about 1,867 (154)

Human Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research [PDF]

Türk Patoloji Dergisi
Objective: A growing body of evidence suggests a correlation between endothelial cell dysfunction and cancer, as well as facioscapulohumeral dystrophy, both of which are DUX4-related diseases. However, the endogenous expression of DUX4 within endothelial
Ceren HANGUL, Dilek BAHAR, Özlem EKINCI, Öznur TOKTA, Yusuf OZKUL, Sibel BERKER KARAUZUM   +5 more
doaj   +1 more source

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

PLoS Genetics, 2009
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 ...
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori   +17 more
doaj   +1 more source

Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

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  

WNT pathway alterations in FSHD [PDF]

, 2014
DUX4 is a potent transcription factor that initiates a large gene deregulation cascade in FSHD muscle cells but most of the cellular pathways causing the pathology are still unknown.
Coppée, Frédérique, Vancutsem, Kelly, Charron, Sébastien, Laoudj-Chenivesse, Dalila, Belayew, Alexandra, Carnac, Gilles, Vanderplanck, Céline, Lancelot, Céline   +7 more
core  

The DUX4 model of FSHD. [PDF]

, 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

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report

Turkish Journal of Anaesthesiology and Reanimation
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici, İlayda Kalyoncu, Cemil Cihad Gedik, Mehmet Ali Deveci, Yavuz Gürkan   +4 more
doaj   +1 more source

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

, 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   +2 more sources

microRNAs exclusively expressed in FSHD biopsies. [PDF]

, 2015
microRNAs exclusively expressed in FSHD biopsies.
Vincent Mouly (75137), Annick Harel-Bellan (448989), Débora Morueco Portilho (611954), Gueorgui Kratassiouk (448985), Marcelo Ribeiro Alves (693391), Gillian Butler-Browne (75143), Stéphane Roche (181919), Wilson Savino (63343), Julie Dumonceaux (421376), Anna Polesskaya (448981), Frédérique Magdinier (169297), Eliane Corrêa de Santana (693392)   +11 more
core   +1 more source

Study of atrophy in Facioscapulohumeralmuscular dystrophy (FSHD) [PDF]

, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive hereditary muscle disease related to chromatin opening in the 4q35 region which facilitates the expression of the DUX4 (Double Homeobox 4) gene encoding a transcription factor.
Coppée, Frédérique, Vancutsem, Kelly, Charron, Sébastien, Belayew, Alexandra   +3 more
core   +2 more sources

Adaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation

Scientific Reports
Facioscapulohumeral dystrophy (FSHD) is one of the most common muscular dystrophies with no effective treatment. The disease is linked to abnormal derepression of DUX4 embryonic transcription factor in skeletal muscle, but at very low frequency. How this
Xiangduo Kong, Ananya Rajagopal, Skylar Renee Foust, Jonovan Osorio, Ali Mortazavi, Anna Grosberg, Kyoko Yokomori   +6 more
doaj   +1 more source