Results 111 to 120 of about 5,041 (194)

microRNAs exclusively expressed in FSHD biopsies.

, 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)

, 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   +1 more source

Interleukin 1 beta levels were significantly different in male FSHD patients

Genetics & Discovery Research , P4.04In FSHD, DUX4 toxicity leads to cell death. Cell death is known to initiate a process called sterile inflammation through IL1 family, which includes IL-1β.
Nannini, Giulia, Berker Karaüzüm, Sibel, Özcan, Filiz, Niccolai, Elena, Hangül, Ceren, Baldi, Simone, Uysal, Hilmi, Amedei, Amedeo   +7 more
core  

Quantitative Three-dimensional Scanning of Facial Movements in Facioscapulohumeral Dystrophy

Neurological Sciences and Neurophysiology
Background: Facioscapulohumeral dystrophy (FSHD) is the third prevalent neuromuscular disorder, particularly with facial and upper limb involvement. Due to its characteristics, quantitative assessment of facial function is challenging but essential for ...
Ceren Hangul, Umut Ozsoy, Arzu Hizay, Sibel Berker Karauzum, Elizabeta Sauer, Mehmet Ziya Firat, Hilmi Uysal   +6 more
doaj   +1 more source

MiRNA dysregulation in FSHD myotubes.

, 2014
A) DEseq analysis of miRNAs differentially expressed in FSHD myotubes vs control myotubes.
Raffaella Meneveri (25726), Giulia Soldà (393631), Francesca Roma (640472), Raffaella Picco (640471), Stéphanie François (5660794), Enrico Ginelli (25727), Veronica Colangelo (640470)   +6 more
core   +1 more source

Investigations on the FSHD disorganized myotube phenotype

, 2012
Primary CD56+ FSHD myoblasts fuse into myotubes presenting various proportions of an atrophic or a disorganized phenotype. To better define those phenotypes, we optimized a differential isotope protein labeling (ICPL) combined with 2DLC-MS/MS to study ...
Leroy, Baptiste, Wattiez, Ruddy, Coppée, Frédérique, Charron, Sébastien, Wauters, Armelle, Ansseau, Eugénie, Laoudj-Chenivesse, Dalila, Belayew, Alexandra, Tassin, Alexandra, Vanderplanck, Céline   +9 more
core  

Kako prepoznati FSHD?

, 2011
Kako bismo prepoznali FSHD, potrebno misliti na: • Genetsku mišićnu bolest • Učestalost u populaciji • Dob i spol bolesnika • Poznavati kliničku sliku i pažljivo gledati bolesnika: o Atrofična o Asimetrična o Selektivna o Descendentna zahvaćenost mišića • Slušati bolesnika (bolovi u mišićima) • Genetske osobitosti: o Autosomna dominantna bolest o De ...
openaire   +1 more source

Elevated labile iron contributes to membrane repair deficits in facioscapulohumeral muscular dystrophy. [PDF]

iScience
Bittel AJ, Bhattacharya S, Okubamariam L, Chen YW.   +3 more
europepmc   +1 more source

Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology. [PDF]

Dis Model Mech
Hiramuki Y, Himeda CL, Jones PL, Jones TI.   +3 more
europepmc   +1 more source

Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHD. [PDF]

Nucleic Acids Res
Malecova B, Sala D, Melikian GM, Johns R, Erdogan G, Hartmann M, Jordan M, Arias JD, Bhattacharya A, Meng Q, Dansereau O, Beppler SW, Doppalapudi VR, Huang H, Flanagan WM, Levin AA.   +15 more
europepmc   +1 more source