305 related articles for article (PubMed ID: 32121044)
1. Does DNA Methylation Matter in FSHD?
Salsi V; Magdinier F; Tupler R
Genes (Basel); 2020 Feb; 11(3):. PubMed ID: 32121044
[TBL] [Abstract][Full Text] [Related]
2. SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C; Roche S; Laberthonnière C; Broucqsault N; Mariot V; Xue S; Gurzau AD; Nowak A; Gordon CT; Gaillard MC; El-Yazidi C; Thomas M; Schlupp-Robaglia A; Missirian C; Malan V; Ratbi L; Sefiani A; Wollnik B; Binetruy B; Salort Campana E; Attarian S; Bernard R; Nguyen K; Amiel J; Dumonceaux J; Murphy JM; Déjardin J; Blewitt ME; Reversade B; Robin JD; Magdinier F
Nucleic Acids Res; 2019 Apr; 47(6):2822-2839. PubMed ID: 30698748
[TBL] [Abstract][Full Text] [Related]
3. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Lemmers RJ; Goeman JJ; van der Vliet PJ; van Nieuwenhuizen MP; Balog J; Vos-Versteeg M; Camano P; Ramos Arroyo MA; Jerico I; Rogers MT; Miller DG; Upadhyaya M; Verschuuren JJ; Lopez de Munain Arregui A; van Engelen BG; Padberg GW; Sacconi S; Tawil R; Tapscott SJ; Bakker B; van der Maarel SM
Hum Mol Genet; 2015 Feb; 24(3):659-69. PubMed ID: 25256356
[TBL] [Abstract][Full Text] [Related]
4. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
Hiramuki Y; Kure Y; Saito Y; Ogawa M; Ishikawa K; Mori-Yoshimura M; Oya Y; Takahashi Y; Kim DS; Arai N; Mori C; Matsumura T; Hamano T; Nakamura K; Ikezoe K; Hayashi S; Goto Y; Noguchi S; Nishino I
J Transl Med; 2022 Nov; 20(1):517. PubMed ID: 36348371
[TBL] [Abstract][Full Text] [Related]
5. Genetic and epigenetic contributors to FSHD.
Daxinger L; Tapscott SJ; van der Maarel SM
Curr Opin Genet Dev; 2015 Aug; 33():56-61. PubMed ID: 26356006
[TBL] [Abstract][Full Text] [Related]
6. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.
Haynes P; Bomsztyk K; Miller DG
Epigenetics Chromatin; 2018 Aug; 11(1):47. PubMed ID: 30122154
[TBL] [Abstract][Full Text] [Related]
7. A focal domain of extreme demethylation within D4Z4 in FSHD2.
Hartweck LM; Anderson LJ; Lemmers RJ; Dandapat A; Toso EA; Dalton JC; Tawil R; Day JW; van der Maarel SM; Kyba M
Neurology; 2013 Jan; 80(4):392-9. PubMed ID: 23284062
[TBL] [Abstract][Full Text] [Related]
8. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.
Jones TI; Yan C; Sapp PC; McKenna-Yasek D; Kang PB; Quinn C; Salameh JS; King OD; Jones PL
Clin Epigenetics; 2014; 6(1):23. PubMed ID: 25400706
[TBL] [Abstract][Full Text] [Related]
9. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Lemmers RJ; Tawil R; Petek LM; Balog J; Block GJ; Santen GW; Amell AM; van der Vliet PJ; Almomani R; Straasheijm KR; Krom YD; Klooster R; Sun Y; den Dunnen JT; Helmer Q; Donlin-Smith CM; Padberg GW; van Engelen BG; de Greef JC; Aartsma-Rus AM; Frants RR; de Visser M; Desnuelle C; Sacconi S; Filippova GN; Bakker B; Bamshad MJ; Tapscott SJ; Miller DG; van der Maarel SM
Nat Genet; 2012 Dec; 44(12):1370-4. PubMed ID: 23143600
[TBL] [Abstract][Full Text] [Related]
10. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
Jones TI; King OD; Himeda CL; Homma S; Chen JC; Beermann ML; Yan C; Emerson CP; Miller JB; Wagner KR; Jones PL
Clin Epigenetics; 2015; 7(1):37. PubMed ID: 25904990
[TBL] [Abstract][Full Text] [Related]
11. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
de Greef JC; Lemmers RJ; van Engelen BG; Sacconi S; Venance SL; Frants RR; Tawil R; van der Maarel SM
Hum Mutat; 2009 Oct; 30(10):1449-59. PubMed ID: 19728363
[TBL] [Abstract][Full Text] [Related]
12. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF; van der Stoep N; Vliet PJV; Moore SA; San Leon Granado D; Johnson K; Topf A; Straub V; Evangelista T; Mozaffar T; Kimonis V; Shaw ND; Selvatici R; Ferlini A; Voermans N; van Engelen B; Sacconi S; Tawil R; Lamers M; van der Maarel SM
J Med Genet; 2019 Oct; 56(10):693-700. PubMed ID: 31243061
[TBL] [Abstract][Full Text] [Related]
13. DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.
Huichalaf C; Micheloni S; Ferri G; Caccia R; Gabellini D
PLoS One; 2014; 9(12):e115278. PubMed ID: 25545674
[TBL] [Abstract][Full Text] [Related]
14. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
Larsen M; Rost S; El Hajj N; Ferbert A; Deschauer M; Walter MC; Schoser B; Tacik P; Kress W; Müller CR
Eur J Hum Genet; 2015 Jun; 23(6):808-16. PubMed ID: 25370034
[TBL] [Abstract][Full Text] [Related]
15. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Erdmann H; Scharf F; Gehling S; Benet-Pagès A; Jakubiczka S; Becker K; Seipelt M; Kleefeld F; Knop KC; Prott EC; Hiebeler M; Montagnese F; Gläser D; Vorgerd M; Hagenacker T; Walter MC; Reilich P; Neuhann T; Zenker M; Holinski-Feder E; Schoser B; Abicht A
Brain; 2023 Apr; 146(4):1388-1402. PubMed ID: 36100962
[TBL] [Abstract][Full Text] [Related]
16. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
Krom YD; Thijssen PE; Young JM; den Hamer B; Balog J; Yao Z; Maves L; Snider L; Knopp P; Zammit PS; Rijkers T; van Engelen BG; Padberg GW; Frants RR; Tawil R; Tapscott SJ; van der Maarel SM
PLoS Genet; 2013 Apr; 9(4):e1003415. PubMed ID: 23593020
[TBL] [Abstract][Full Text] [Related]
17. [Facioscapulohumeral muscular dystrophy type 2].
Sacconi S; Desnuelle C
Rev Neurol (Paris); 2013; 169(8-9):564-72. PubMed ID: 23969240
[TBL] [Abstract][Full Text] [Related]
18. Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.
Zeng W; Chen YY; Newkirk DA; Wu B; Balog J; Kong X; Ball AR; Zanotti S; Tawil R; Hashimoto N; Mortazavi A; van der Maarel SM; Yokomori K
Hum Mutat; 2014 Aug; 35(8):998-1010. PubMed ID: 24838473
[TBL] [Abstract][Full Text] [Related]
19. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC; Wohlgemuth M; Chan OA; Hansson KB; Smeets D; Frants RR; Weemaes CM; Padberg GW; van der Maarel SM
Neurology; 2007 Sep; 69(10):1018-26. PubMed ID: 17785671
[TBL] [Abstract][Full Text] [Related]
20. Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.
Tsien F; Sun B; Hopkins NE; Vedanarayanan V; Figlewicz D; Winokur S; Ehrlich M
Mol Genet Metab; 2001 Nov; 74(3):322-31. PubMed ID: 11708861
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]