Results 11 to 20 of about 1,312 (124)

A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing. [PDF]

Hum Mol Genet
Abstract The DUX4 transcription factor is briefly expressed in the early embryo and is epigenetically repressed in somatic tissues. Loss of epigenetic repression can result in the aberrant expression of DUX4 in skeletal muscle and can cause facioscapulohumeral dystrophy (FSHD).
Paatela EM, St Amant FG, Hamm DC, Bennett SR, Gujral TS, van der Maarel SM, Tapscott SJ.   +6 more
europepmc   +5 more sources

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. [PDF]

PeerJ
Background Facioscapulohumeral muscular dystrophy (FSHD) patients carrying borderline D4Z4 repeat units (DRUs) (8–10) represent a molecularly ambiguous group overlapping FSHD1 and FSHD2, characterized by pronounced phenotypic heterogeneity. This study aimed to determine the association between methylation levels
Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z.   +7 more
europepmc   +2 more sources

The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy [PDF]

The American Journal of Human Genetics, 2005
Facioscapulohumeral muscular dystrophy (FSHD [MIM 158900]) is the third most common inherited muscular dystrophy, with an estimated frequency of 1 in 20,000 (Padberg 1982). The disease is foremost characterized by a progressive and often asymmetrical weakness and wasting of the facial, shoulder, and upper-arm muscles.
van der Maarel, Silvère M., Frants, Rune R.   +1 more
openaire   +2 more sources

Hybridization analysis of D4Z4 repeat arrays linked to FSHD [PDF]

Chromosoma, 2006
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease involving shortening of D4Z4, an array of tandem 3.3-kb repeat units on chromosome 4. These arrays are in subtelomeric regions of 4q and 10q and have 1-100 units. FSHD is associated with an array of 1-10 units at 4q35.
Melanie, Ehrlich, Kesmic, Jackson, Koji, Tsumagari, Pilar, Camaño, Richard J F L, Lemmers   +4 more
openaire   +2 more sources

A focal domain of extreme demethylation within D4Z4 in FSHD2 [PDF]

Neurology, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease with an unclear genetic mechanism. Most patients have a contraction of the D4Z4 macrosatellite repeat array at 4qter, which is thought to cause partial demethylation (FSHD1) of the contracted allele. Demethylation has been surveyed at 3 restriction enzyme sites in the first repeat
Hartweck, L.M., Anderson, L.J., Lemmers, R.J., Dandapat, A., Toso, E.A., Dalton, J.C., Tawil, R., Day, J.W., Maarel, S.M. van der, Kyba, M.   +9 more
openaire   +3 more sources

D4Z4as a prototype of CTCF and lamins-dependent insulator in human cells [PDF]

Nucleus, 2010
Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently investigated the biological function of the D4Z4 macrosatellite in this subtelomeric context.We demonstrated that D4Z4 acts as a CTCF and A-type lamins dependent
Ottaviani, Alexandre, Schluth-Bolard, Caroline, Gilson, Eric, Magdinier, Frédérique   +3 more
openaire   +3 more sources

SMCHD1 is involved inde novomethylation of theDUX4-encoding D4Z4 macrosatellite [PDF]

Nucleic Acids Research, 2019
The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for the majority of methylated CGs. DNA methylation is altered in a number of diseases including those linked to mutations in factors that modify chromatin ...
Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra, Nowak, Agnieszka, Gordon, Christopher, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Robaglia-Schlupp, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Salort-Campana, Emmanuelle, Binétruy, Bernard, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James, Déjardin, Jérôme, Blewitt, Marnie, Reversade, Bruno, Robin-Ducellier, Jérôme, Magdinier, Frédérique   +30 more
openaire   +6 more sources

Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats [PDF]

Neurology, 2015
To examine the relationship of clinical and genetic features of patients with facioscapulohumeral muscular dystrophy (FSHD) with 7-10 residual D4Z4 repeats in a large genetically defined FSHD1 cohort.We performed a prospective cross-sectional observational study of 74 clinically affected patients with FSHD1.
Statland, J.M., Donlin-Smith, C.M., Tapscott, S.J., Lemmers, R.J.L.F., Maarel, S.M. van der, Tawil, R.   +5 more
openaire   +3 more sources

Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy [PDF]

JAMA Network Open, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carriers of the D4Z4
Ruggiero L., Mele F., Manganelli F., Bruzzese D., Ricci G., Vercelli L., Govi M., Vallarola A., Tripodi S., Villa L., Di Muzio A., Scarlato M., Bucci E., Antonini G., Maggi L., Rodolico C., Tomelleri G., Filosto M., Previtali S., Angelini C., Berardinelli A., Pegoraro E., Moggio M., Mongini T., Siciliano G., Santoro L., Tupler R.   +26 more
openaire   +7 more sources

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice [PDF]

Skeletal Muscle, 2020
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently identified as a disease gene and disease modifier in FSHD.
Bouwman, L.F., Hamer, B. den, Verveer, E.P., Lerink, L.J.S., Krom, Y.D., Maarel, S.M. van der, Greef, J.C. de   +6 more
openaire   +5 more sources