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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2.

Richard J L F Lemmers
Rabi Tawil
Silvère M van der Maarel
Research11 Nov 2012
Nature Genetics

Volume: 44, P: 1370-1374
A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

Remko Goossens
Mara S. Tihaya
Silvère M. van der Maarel
ResearchOpen Access08 Dec 2021
Scientific Reports

Volume: 11, P: 1-14
Facioscapulohumeral muscular dystrophy: the road to targeted therapies

Facioscapulohumeral muscular dystrophy is caused by aberrant expression of the transcription factor DUX4. Tihaya, Mul and colleagues describe advances in the development of targeted treatments for facioscapulohumeral muscular dystrophy and discuss potential clinical trial outcome measures as well as molecular and imaging biomarkers.

Mara S. Tihaya
Karlien Mul
Silvère M. van der Maarel
Reviews10 Jan 2023
Nature Reviews Neurology

Volume: 19, P: 91-108
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Germline mutations in SMCHD1 and LRIF1 can lead to inappropriate expression of the D4Z4 repeat-encoded DUX4 gene. Here alternative modes of repression of D4Z4 by SMCHD1 and LRIF1 are identified, relevant for understanding facioscapulohumeral muscular dystrophy.

Darina Šikrová
Alessandra M. Testa
Silvère M. van der Maarel
ResearchOpen Access28 Jun 2023
Communications Biology

Volume: 6, P: 1-14
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

Judit Balog
Dan Miller
Silvère M van der Maarel
Research03 Aug 2011
European Journal of Human Genetics

Volume: 20, P: 185-191
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Richard JLF Lemmers
Patrick J van der Vliet
Silvère M van der Maarel
ResearchOpen Access21 Nov 2017
European Journal of Human Genetics

Volume: 26, P: 94-106

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

Facioscapulohumeral muscular dystrophy: the road to targeted therapies

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

Facioscapulohumeral muscular dystrophy: the road to targeted therapies

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Search

Quick links