Results 81 to 90 of about 1,312 (124)

Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1. [PDF]

eNeurologicalSci
Krenn M, Vetchy V, Kasprian G, Grisold W.   +3 more
europepmc   +1 more source

The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression. [PDF]

Int J Mol Sci
Díaz-Ubilla M, Retamal MA.
europepmc   +1 more source

Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy. [PDF]

Ann Lab Med
Shim Y, Seo J, Lee ST, Choi JR, Choi YC, Shin S, Park HJ.   +6 more
europepmc   +1 more source

Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy

Heher P, Pfeiffer-Vogl J, Ganassi M, Fulea R, McGuire L, Engquist EN, Tyszkiewicz M, Prueller J, Grillari J, Tasca G, Banerji CR, Zammit PS.   +11 more
europepmc   +1 more source

Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I

Sacconi S, Puma A, Tammam G, Ezaru A, Slioui A, Monforte M, Tasca G, villa l, Cavalli M, Salviati L, Vliet Pvd, Lemmers R, Pini J, Maarel Svd.   +13 more
europepmc   +1 more source

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs [PDF]

Human Mutation, 2014
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 repeats on chromosome 4q (FSHD1). Less than 5% of FSHD cases have no repeat contraction (FSHD2), most of which are associated with mutations of SMCHD1.
Silvere Van Der Maarel, Kyoko Yokomori, Ali Mortazavi   +2 more
exaly   +7 more sources

Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation [PDF]

FEBS Letters, 2003
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with deletions of a subtelomeric repeat (D4Z4). A reduction in D4Z4 copy number coincides with increased expression of neighboring 4q35 genes, implying a normal repressive role for the repeats.
David Picketts
exaly   +3 more sources

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Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD

2022
Abstract Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of D4Z4 repeats on chromosome 4q (FSHD1). Mutations in the SMCHD1 gene are linked to both minor cases with no prominent repeat loss (FSHD2) and severe cases of FSHD1.
Xiangduo Kong, Nam Viet Nguyen, Yumeng Li, Jasmine Shaaban Sakr, Kate Williams, Sheila Sharifi, Jonathan Chau, Altay Bayrakci, Seiya Mizuno, Satoru Takahashi, Tohru Kiyono, Rabi Tawil, Ali Mortazavi, Kyoko Yokomori   +13 more
openaire   +1 more source

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Human Mutation, 2009
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD. In addition, contraction of the
Silvere Van Der Maarel, Engelen B, Sabrina Sacconi   +2 more
exaly   +4 more sources