Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies

Autor: Dennis W. W. Shaw, Richard J F L Lemmers, Chris B Budech, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott, Leann Lewis, Chao-Jen Wong, Jeffrey Statland, Amy E. Campbell, Seth D. Friedman, Leo H. Wang

Publikováno v: Hum Mol Genet
Human Molecular Genetics, 29(6), 1030-1043. OXFORD UNIV PRESS

Advances in understanding the pathophysiology of facioscapulohumeral dystrophy (FSHD) have led to the discovery of candidate therapeutics, and it is important to identify markers of disease activity to inform clinical trial design. For drugs that inh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6815ea09e0e213410404053d53cf3e83
https://doi.org/10.1093/hmg/ddaa031

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Autor: Rabi Tawil, Nicol C. Voermans, Silvère M. van der Maarel, Richard J F L Lemmers, Stephen J. Tapscott, Adolfo López de Munain, Patrick J. van der Vliet, Nienke van der Stoep, Marlinde L. van den Boogaard, Pilar Camaño, Baziel G.M. van Engelen

Publikováno v: European Journal of Human Genetics, 24, 1, pp. 78-85
European Journal of Human Genetics, 24(1), 78-85
European Journal of Human Genetics, 24, 78-85

Item does not contain fulltext Facioscapulohumeral muscular dystrophy (FSHD) predominantly affects the muscles in the face, trunk and upper extremities and is marked by large clinical variability in disease onset and progression. FSHD is associated w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7633e2eae190d0ec87dcba3d53e50c
https://hdl.handle.net/2066/167745

Hybridization Analysis of D4Z4 Repeat Arrays Linked to FSHD

Autor: Pilar Camaño, Koji Tsumagari, Richard J F L Lemmers, Melanie Ehrlich, Kesmic Jackson

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease involving shortening of D4Z4, an array of tandem 3.3-kb repeat units on chromosome 4. These arrays are in subtelomeric regions of 4q and 10q and have 1 – 100 units. FSHD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46574c2492c2239367f146697f194e1e
https://europepmc.org/articles/PMC1828046/

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Autor: Leo Enthoven, F. Bakels, Gert-Jan B. van Ommen, Silvère M. van der Maarel, Rune R. Frants, Lodewijk A. Sandkuijl, Richard J F L Lemmers, George W. Padberg, Sara T. Winokur, Petra G.M. van Overveld

Publikováno v: Nature Genetics, 35, 4, pp. 315-7
Nature Genetics, 35, 315-7

Item does not contain fulltext The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83cc832413db33a94ff4df4bd4ffbcfe
https://hdl.handle.net/2066/186335