Results 1 to 10 of about 151 (87)

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production. [PDF]

PLoS ONE, 2012
Facioscapulohumeral Disease (FSHD) is a dominantly inherited progressive myopathy associated with aberrant production of the transcription factor, Double Homeobox Protein 4 (DUX4).
Gregory J Block, Lisa M Petek, Divya Narayanan, Amanda M Amell, James M Moore, Natalia A Rabaia, Ashlee Tyler, Silvere M van der Maarel, Rabi Tawil, Galina N Filippova, Daniel G Miller   +10 more
doaj   +1 more source

DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy. [PDF]

PLoS ONE, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35.2 from 11-100 copies to 1-10 copies.
Benjamin D Pope, Koji Tsumagari, Dana Battaglia, Tyrone Ryba, Ichiro Hiratani, Melanie Ehrlich, David M Gilbert   +6 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

FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach

Diagnostics, 2021
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant myodystrophy. Approximately 95% of cases of FSHD are caused by partial deletion of the D4Z4 macrosatellite tandem repeats on chromosome 4q35.
Nikolay Vladimirovich Zernov, Anna Alekseevna Guskova, Mikhail Yurevich Skoblov   +2 more
doaj   +1 more source

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. [PDF]

PLoS ONE, 2015
The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD).
Eugénie Ansseau, Jacqueline S Domire, Lindsay M Wallace, Jocelyn O Eidahl, Susan M Guckes, Carlee R Giesige, Nettie K Pyne, Alexandra Belayew, Scott Q Harper   +8 more
doaj   +1 more source

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Frontiers in Genetics, 2022
Objective: To demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy type 1 (FSHD1).Methods: Bionano optical mapping was used to identify the D4Z4 structural variation of the genomic DNA ...
Yayun Qin, Hui Xu, Jingmin Yang, Jingmin Yang, Jingmin Yang, Yiming Wu, Hui Li, Bo Wang, Lijun Liu, Ding Ren, Runhong Xu, Manman Li, Chengcheng Zhang, Jieping Song   +13 more
doaj   +1 more source

DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.

PLoS ONE, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited diseases of the skeletal muscle. It is characterized by asymmetric muscle weakness and variable penetrance.
Claudia Huichalaf, Stefano Micheloni, Giulia Ferri, Roberta Caccia, Davide Gabellini   +4 more
doaj   +1 more source

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. [PDF]

PLoS Genetics, 2013
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each ...
Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel   +16 more
doaj   +1 more source

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

Frontiers in Genetics, 2023
Introduction: Despite the progress made in the study of Facioscapulohumeral Dystrophy (FSHD), the wide heterogeneity of disease complicates its diagnosis and the genotype-phenotype correlation among patients and within families.
Claudia Strafella, Valerio Caputo, Sara Bortolani, Eleonora Torchia, Domenica Megalizzi, Giulia Trastulli, Mauro Monforte, Luca Colantoni, Carlo Caltagirone, Enzo Ricci, Enzo Ricci, Giorgio Tasca, Giorgio Tasca, Raffaella Cascella, Raffaella Cascella, Emiliano Giardina, Emiliano Giardina   +16 more
doaj   +1 more source

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

BMC Biology, 2009
Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q.
Marozzi Anna, Meneveri Raffaella, Mora Marina, Brunelli Silvia, Cheli Stefania, Grasser Florian, Ramirez Gabriella, Bodega Beatrice, Mueller Stefan, Battaglioli Elena, Ginelli Enrico   +10 more
doaj   +1 more source