The scientist’s investigation covers issues in Genetics, Facioscapulohumeral muscular dystrophy, DUX4, Muscular dystrophy and Subtelomere. His work deals with themes such as Chromosome 4, Chromosome, Molecular biology, Allele and Gene silencing, which intersect with Facioscapulohumeral muscular dystrophy. The subject of his DUX4 research is within the realm of Epigenetics.
His Epigenetics study combines topics in areas such as DNMT3B, DNA methylation, Pathology and Bioinformatics. His study on Muscular dystrophy is covered under Internal medicine. His Regulation of gene expression study incorporates themes from Myogenesis and Gene expression profiling.
Silvère M. van der Maarel focuses on Facioscapulohumeral muscular dystrophy, Genetics, DUX4, Muscular dystrophy and Molecular biology. Silvère M. van der Maarel has included themes like Allele, Haplotype, Disease and Bioinformatics in his Facioscapulohumeral muscular dystrophy study. His research on DUX4 concerns the broader Epigenetics.
Silvère M. van der Maarel focuses mostly in the field of Epigenetics, narrowing it down to topics relating to Epigenetic Repression and, in certain cases, Germline. The Muscular dystrophy study combines topics in areas such as Phenotype, Dystrophy and Weakness. Within one scientific family, he focuses on topics pertaining to Antibody under Molecular biology, and may sometimes address concerns connected to Neuromuscular junction and Acetylcholine receptor.
His scientific interests lie mostly in Facioscapulohumeral muscular dystrophy, DUX4, Muscular dystrophy, Gene and Cell biology. Internal medicine covers Silvère M. van der Maarel research in Facioscapulohumeral muscular dystrophy. Epigenetics and Genetics are closely tied to his DUX4 research.
His study in the field of Phenotype, Locus, Chromosome 4 and Methylation is also linked to topics like Context. Silvère M. van der Maarel combines subjects such as Reprogramming and MEDLINE with his study of Muscular dystrophy. His Gene research integrates issues from Dystrophy and Bioinformatics.
His primary areas of investigation include DUX4, Facioscapulohumeral muscular dystrophy, Epigenetics, Muscular dystrophy and Genetics. Silvère M. van der Maarel has researched DUX4 in several fields, including Exome sequencing, Missense mutation, Intronic Mutation, Chromosome 4 and Sanger sequencing. His biological study spans a wide range of topics, including Cohort study, Oncology and DNA methylation.
His Epigenetics research incorporates elements of Chromatin, Transcriptome, Computational biology and Skeletal muscle. His Muscular dystrophy research integrates issues from Gene expression profiling, Disease, Allele, Haplotype and Severity of illness. His work on ATPase expands to the thematically related Genetics.
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A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Richard J. L. F. Lemmers;Patrick J. van der Vliet;Rinse Klooster;Sabrina Sacconi.
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J.L.F. Lemmers;Rabi Tawil;Lisa M. Petek;Judit Balog.
Nature Genetics (2012)
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
Lauren Snider;Linda N. Geng;Richard J. L. F. Lemmers;Michael Kyba.
PLOS Genetics (2010)
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
Petra G M van Overveld;Richard J F L Lemmers;Lodewijk A Sandkuijl;Leo Enthoven.
Nature Genetics (2003)
DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy
Linda N. Geng;Zizhen Yao;Lauren Snider;Abraham P. Fong.
Developmental Cell (2012)
Facioscapulohumeral muscular dystrophy
Rabi Tawil;Silvère M. Van Der Maarel.
Muscle & Nerve (2006)
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
Rabi Tawil;Rabi Tawil;Silvère M van der Maarel;Silvère M van der Maarel;Stephen J Tapscott;Stephen J Tapscott.
Skeletal Muscle (2014)
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
Weihua Zeng;Jessica C. De Greef;Yen Yun Chen;Richard Chien.
PLOS Genetics (2009)
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts
Peter A.J. Leegwater;Bao Qiang Yuan;Jeffrey van der Steen;Joyce Mulders.
American Journal of Human Genetics (2001)
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Richard J L F Lemmers;Peggy de Kievit;Lodewijk Sandkuijl;George W Padberg.
Nature Genetics (2002)
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