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DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.
Kisseljova NP, Dmitriev P, Katargin A, Kim E, Ezerina D, Markozashvili D, Malysheva D, Planche E, Lemmers RJ, van der Maarel SM, Laoudj-Chenivesse D, Lipinski M, Vassetzky YS. Kisseljova NP, et al. Among authors: lemmers rj. Eur J Hum Genet. 2014 Sep;22(9):1117-23. doi: 10.1038/ejhg.2013.306. Epub 2014 Jan 22. Eur J Hum Genet. 2014. PMID: 24448543 Free PMC article.
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.
Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants. Montagnese F, et al. Among authors: lemmers rjlf. Neuromuscul Disord. 2023 May;33(5):447-462. doi: 10.1016/j.nmd.2023.04.005. Epub 2023 Apr 8. Neuromuscul Disord. 2023. PMID: 37099914 No abstract available.
Somatic mosaicism in FSHD often goes undetected.
Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Ann Neurol. 2004 Jun;55(6):845-50. doi: 10.1002/ana.20106. Ann Neurol. 2004. PMID: 15174019
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. Snider L, et al. Among authors: lemmers rj. Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9. Hum Mol Genet. 2009. PMID: 19359275 Free PMC article.
92 results