The role of the D4Z4 repeat and the KLF15 transcription factor in the facioscapulohumeral muscular dystrophy (FSHD)

P Dmitriev - 2011 - theses.hal.science
Facioscapulohumeral muscular dystrophy (FSHD), a dominant hereditary disease with a
prevalence of 7 per 100,000 individuals, is associated with a partial deletion in the …

The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy

P Dmitriev, A Petrov, E Ansseau, L Stankevicins… - Journal of Biological …, 2011 - ASBMB
Facioscapulohumeral muscular dystrophy (FSHD), a dominant hereditary disease with a
prevalence of 7 per 100,000 individuals, is associated with a partial deletion in the …

[PDF][PDF] Le rôle de l'élément répété D4Z4 et du facteur de transcription KLF15 dans la dystrophie musculaire facioscapulohumérale (FSHD)

P Dmitriev - 2011 - Citeseer
Facioscapulohumeral muscular dystrophy, a debilitating inheritable disorder, is one of the
most common muscular dystrophies worldwide. Although the genetic defect associated with …

Direct interplay between two candidate genes in FSHD muscular dystrophy

G Ferri, CH Huichalaf, R Caccia… - Human Molecular …, 2015 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common
neuromuscular disorders. The major form of the disease (FSHD1) is linked to decrease in …

Molecular basis of facioscapulohumeral muscular dystrophy

R Tupler, D Gabellini - Cellular and Molecular Life Sciences CMLS, 2004 - Springer
Facioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an
autosomal dominant disease with an insidious onset and progression. Almost all FSHD …

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

PE Thijssen, J Balog, Z Yao, TP Pham, R Tawil… - Skeletal muscle, 2014 - Springer
Background The most common form of facioscapulohumeral muscular dystrophy (FSHD) is
caused by a genetic contraction of the polymorphic D4Z4 macrosatellite repeat array in the …

Genetic and epigenetic contributors to FSHD

L Daxinger, SJ Tapscott, SM van der Maarel - Current opinion in genetics & …, 2015 - Elsevier
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscle disorder
characterized by distinct chromatin changes including DNA hypomethylation of the D4Z4 …

Genetic and epigenetic characteristics of FSHD‐associated 4q and 10q D4Z4 that are distinct from non‐4q/10q D4Z4 homologs

W Zeng, YY Chen, DA Newkirk, B Wu, J Balog… - Human …, 2014 - Wiley Online Library
Facioscapulohumeral dystrophy (FSHD) is one of the most prevalent muscular dystrophies.
The majority of FSHD cases are linked to a decreased copy number of D4Z4 macrosatellite …

Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle

D Gabellini, MR Green, R Tupler - Cell, 2002 - cell.com
Facioscapulohumeral muscular dystrophy (FSHD), a common myopathy, is an autosomal
dominant disease of unknown molecular mechanism. Almost all FSHD patients carry …

Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene

CL Himeda, C Debarnot, S Homma… - … and cellular biology, 2014 - Am Soc Microbiol
Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic dysregulation of
the chromosome 4q35 D4Z4 macrosatellite. However, this does not account for the tissue …