Results 61 to 70 of about 151 (87)

Coats Syndrome in Facioscapulohumeral Dystrophy Type 1

Pediatric Neurology Briefs, 2013
Investigators at University of Rochester Medical Center, NY; Hopital Archet-CHU de Nice, France; and Albert Einstein College of Medicine, NY, studied the frequency of Coats syndrome and its association with D4Z4 contraction size in 408 patients ...
J Gordon Millichap
doaj   +1 more source

Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2)

BMC Evolutionary Biology, 2007
Background In order to obtain insights into the functionality of the human 4q35.2 domain harbouring the facioscapulohumeral muscular dystrophy (FSHD) locus, we investigated in African apes genomic and chromatin organisations, and the nuclear topology of ...
Riva Paola, Marozzi Anna, Battaglioli Elena, Rossi Elena, Orzan Francesca, Neusser Michaela, Müller Stefan, Cardone Maria, Bodega Beatrice, Rocchi Mariano, Meneveri Raffaella, Ginelli Enrico   +11 more
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Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing

Journal of Translational Medicine
Background Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant clinical and genetic heterogeneity.
Mingtao Huang, Qinxin Zhang, Jiao Jiao, Jianquan Shi, Yiyun Xu, Cuiping Zhang, Ran Zhou, Wenwen Liu, Yixuan Liang, Hao Chen, Yan Wang, Zhengfeng Xu, Ping Hu   +12 more
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Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats.

PLoS ONE, 2009
Facioscapulohumeral muscular dystrophy (FSHD) is caused by contractions of D4Z4 repeats at 4q35.2 thought to induce misregulation of nearby genes, one of which, DUX4, is actually localized within each repeat.
Darko Bosnakovski, Randy S Daughters, Zhaohui Xu, Jonathan M W Slack, Michael Kyba   +4 more
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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

Skeletal Muscle, 2017
Background Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2).
Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel   +12 more
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DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD)

Human Genomics
Motivation Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy caused by genetic or epigenetic changes within the D4Z4-repeat at the DUX4-gene, on chromosome 4q.
Tamara Löwenstern, Silvia Madritsch, David Horner, Nadja Brait, Naz Güleray Lafci, Anna Schachner, Maria Gerykova Bujalkova, Tadeusz Kałużewski, Pawel Szyld, Markus Hengstschläger, Paul Dremsek, Franco Laccone   +11 more
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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Clinical Epigenetics
Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35).
Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group   +51 more
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The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping

Orphanet Journal of Rare Diseases
Background Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy, which is characterized by a reduction in the number of D4Z4 repeats on chromosome 4q35.
Mengmeng Li, Na Hao, Jiazhen Chang, Kaili Yin, Xueting Yang, Yaru Wang, Yi Dai, Yulin Jiang   +7 more
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Progress in research on molecular mechanism of facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Facioscapulohumeral muscular dystrophy (FSHD), characterized by symmetric or asymmetric muscular weakness of the initial onset of facial, shoulder-girdle and upper arm muscles, and descending to limb muscles, is a classical autosomal dominant myopathy ...
Xiao-dan LIN, Jun-jie HE, Wan-jin CHEN, Ning WANG, Zhi-qiang WANG   +4 more
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Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2023
Patra Yeetong, Vorasuk Shotelersuk, Oranee Sanmaneechai   +2 more
exaly