Silvere M van der Maarel
Affiliation: Leiden University Medical Center
Country: The Netherlands
van der Maarel S. Epigenetic mechanisms in health and disease. Ann Rheum Dis. 2008;67 Suppl 3:iii97-100 pubmed publisher
..While our understanding of these epigenetic disease mechanisms steadily increases, the challenge will be to develop new drugs that specifically deal with the epigenetic lesion. ..
van der Maarel S, Frants R, Padberg G. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2007;1772:186-94 pubmed
..Clearly, better disease models need to be developed to identify and test novel intervention strategies to eventually improve the quality of life for patients with FSHD...
Daxinger L, Tapscott S, van der Maarel S. Genetic and epigenetic contributors to FSHD. Curr Opin Genet Dev. 2015;33:56-61 pubmed publisher
..Recent studies indicate that a combination of genetic and epigenetic factors that act on the D4Z4 repeat array determine the probability of DUX4 expression in skeletal muscle and disease penetrance and progression. ..
de Greef J, Wang J, Balog J, den Dunnen J, Frants R, Straasheijm K, et al
. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet. 2011;88:796-804 pubmed publisher
Mason A, Slieker R, Balog J, Lemmers R, Wong C, Yao Z, et al
. SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes. Skelet Muscle. 2017;7:12 pubmed publisher
..Our results suggest that SMCHD1 acts as a repressor on a limited set of autosomal gene clusters, as an observed reduction in methylation associates with a loss of SMCHD1 binding and increased expression for some of the loci. ..