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Auteur Tapscott SJ |
Documents disponibles écrits par cet auteur (43)



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DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD
Shadle SC, Bennett SR, Wong CJ, et al.
Human molecular genetics, 2019
Revue : Human molecular genetics Titre : DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD Type de document : Article Auteurs : Shadle SC, Auteur ; Bennett SR ; Wong CJ ; Karreman NA ; Campbell AE ; van der Maarel SM ; Bass BL ; Tapscott SJ Editeur : England Année de publication : 10/2019 Langues : Anglais (eng) Mots-clés : biologie moléculaire ; dystrophie musculaire facio-scapulo-humérale ; maladie neuromusculaire ; mécanisme d'action ; protéine DUX4 ; RECHERCHE Pubmed / DOI : Pubmed : 31630170 / DOI : 10.1093/hmg/ddz242
N° Profil MNM : 2019102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31630170 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy.
Oliva J, Galasinski S, Richey A, et al.
The Journal of pharmacology and experimental therapeutics, 2019
Revue : The Journal of pharmacology and experimental therapeutics Titre : Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy. Type de document : Article Auteurs : Oliva J, Auteur ; Galasinski S ; Richey A ; Campbell AE ; Meyers MJ ; Modi N ; Zhong JW ; Tawil R ; Tapscott SJ ; Sverdrup FM Editeur : United States Année de publication : 06/2019 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31189728 / DOI : 10.1124/jpet.119.259663
N° Profil MNM : 2019062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31189728 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy
Jagannathan S, Ogata Y, Gafken PR, et al.
eLife, 2019
Revue : eLife Titre : Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy Type de document : Article Auteurs : Jagannathan S, Auteur ; Ogata Y ; Gafken PR ; Tapscott SJ ; Bradley RK Année de publication : 15/01/2019 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.7554/eLife.41740 / Pubmed : 30644821
N° Profil MNM : 2019011 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30644821 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD
Wang LH, Wang LH, Friedman SD, et al.
Human molecular genetics, 2018
Revue : Human molecular genetics Titre : MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD Type de document : Article Auteurs : Wang LH, Auteur ; Wang LH ; Friedman SD ; Shaw D ; Snider L ; Wong CJ ; Budech CB ; Poliachik SL ; Gove NE ; Lewis LM ; Campbell AE ; Lemmers RJFL ; Maarel SM ; Tapscott SJ ; Tawil RN Année de publication : 12/10/2018 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1093/hmg/ddy364 / Pubmed : 30312408
N° Profil MNM : 2018081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30312408 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Mul K, Mul K, Lemmers RJLF, et al.
Neurology, 2018
Revue : Neurology Titre : FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation Type de document : Article Auteurs : Mul K, Auteur ; Mul K ; Lemmers RJLF ; Kriek M ; van der Vliet PJ ; van den Boogaard ML ; Badrising UA ; Graham JM Jr ; Lin AE ; Brand H ; Moore SA ; Johnson K ; Evangelista T ; Töpf A ; Straub V ; Kapetanovic Garcia S ; Sacconi S ; Tawil R ; Tapscott SJ ; Voermans NC ; van Engelen BGM ; Horlings CGC ; Shaw ND ; van der Maarel SM Année de publication : 06/07/2018 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1212/WNL.0000000000005958 / Pubmed : 29980640
N° Profil MNM : 2018071 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29980640 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures
Lim JW, Wong CJ, Yao Z, et al.
Human molecular genetics, 2018
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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Lemmers RJ, van der Vliet PJ, Balog J, et al.
European journal of human genetics : EJHG, 2018, 26, 1, p 94
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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
de Greef JC, Krom YD, den Hamer B, et al.
Human molecular genetics, 2018, 27, 4, p 716
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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Mason AG, Slieker RC, Balog J, et al.
Skeletal Muscle, 2017, 7, 1
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard ML, Lemmers RJ, Balog J, et al.
American journal of human genetics, 2016, 98, 5, p 1020
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Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells
Jagannathan S, Jagannathan S, Shadle SC, et al.
Human molecular genetics, 2016, 25, 20, p 4419
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Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures : Actes de colloque - 29-30 May 2015 Rochester, New York
Tawil R, Padberg GW, Shaw DW, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 181
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DICER/AGO-dependent Epigenetic Silencing of D4Z4 Repeats Enhanced by Exogenous siRNA Suggests Mechanisms and Therapies for FSHD.
Lim JW, Snider L, Yao Z, et al.
Human molecular genetics, 2015, Epub
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Genetic and epigenetic contributors to FSHD.
Daxinger L, Tapscott SJ, van der Maarel SM
Current opinion in genetics & development, 2015, 33, 56-61
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Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
Balog J, Thijssen PE, Shadle S, et al.
Epigenetics, 2015, 10, 12, p 1133
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Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
van den Boogaard ML, Lemmers RJLF, Camano P, et al.
European journal of human genetics : EJHG, 2015, 24, 1, p 78
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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Lemmers RJ, Goeman JJ, van der Vliet PJ, et al.
Human molecular genetics, 2015, 24, 3, p 659
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DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Yao Z, Snider L, Balog J, et al.
Human molecular genetics, 2014, 23, 20, p 5342
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Clinical trial preparedness in facioscapulohumeral dystrophy : outcome measures and patient access. 8-9 April 2013, The Netherlands
Tawil R, Shaw DW, van der Maarel SM, et al.
Congrès : Clinical trial preparedness in facioscapulohumeral dystrophy : Outcome measures and patient access (8-9 April 2013; Leiden, The Nethelands)
Neuromuscular disorders : NMD, 2014, 24, 1, p. 79-85
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The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
Sacconi S, Lemmers RJLF, Balog J, et al.
American journal of human genetics (The), 2013, 93, 4, p. 744-751
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DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis
Young JM, Whiddon JL, Yao Z, et al.
PLoS Genetics, 2013, 9, 11, e1003947, 19 p.
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
Krom YD, Thijssen PE, Young JM, et al.
PLoS Genetics, 2013, 9, 4, e1003415, 17 p.
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Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient : a cellular model for FSHD
Krom YD, Dumonceaux J, Mamchaoui K, et al.
American journal of pathology (The), 2012, 181, 10, p. 1387-1401
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Facioscapulohumeral muscular dystrophy : consequences of chromatin relaxation
van der Maarel SM, Miller DG, Tawil R, et al.
Current opinion in neurology, 2012, 25, 5, p. 614-620
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