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Items: 1 to 20 of 167

1.

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

Campbell AE, Oliva J, Yates MP, Zhong JW, Shadle SC, Snider L, Singh N, Tai S, Hiramuki Y, Tawil R, van der Maarel SM, Tapscott SJ, Sverdrup FM.

Skelet Muscle. 2017 Sep 4;7(1):16. doi: 10.1186/s13395-017-0134-x.

2.

Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature.

Denny AP, Heather AK.

Oxid Med Cell Longev. 2017;2017:7020295. doi: 10.1155/2017/7020295. Epub 2017 Jun 12. Review.

3.

Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD).

Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A.

Genes (Basel). 2017 Mar 3;8(3). pii: E93. doi: 10.3390/genes8030093.

4.

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.

Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, Moretti F.

J Clin Invest. 2017 Apr 3;127(4):1531-1545. doi: 10.1172/JCI89401. Epub 2017 Mar 6.

5.

Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.

Eidahl JO, Giesige CR, Domire JS, Wallace LM, Fowler AM, Guckes SM, Garwick-Coppens SE, Labhart P, Harper SQ.

Hum Mol Genet. 2016 Oct 15;25(20):4577-4589. doi: 10.1093/hmg/ddw287.

6.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9.

7.

The roles of RNA processing in translating genotype to phenotype.

Manning KS, Cooper TA.

Nat Rev Mol Cell Biol. 2017 Feb;18(2):102-114. doi: 10.1038/nrm.2016.139. Epub 2016 Nov 16. Review.

8.

Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy.

Moyle LA, Blanc E, Jaka O, Prueller J, Banerji CR, Tedesco FS, Harridge SD, Knight RD, Zammit PS.

Elife. 2016 Nov 14;5. pii: e11405. doi: 10.7554/eLife.11405.

9.

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis.

Knopp P, Krom YD, Banerji CR, Panamarova M, Moyle LA, den Hamer B, van der Maarel SM, Zammit PS.

J Cell Sci. 2016 Oct 15;129(20):3816-3831.

10.

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.

Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley RT III.

J Neurol. 2016 Dec;263(12):2528-2537. Epub 2016 Oct 12.

PMID:
27734165
11.

PARP1 Differentially Interacts with Promoter region of DUX4 Gene in FSHD Myoblasts.

Sharma V, Pandey SN, Khawaja H, Brown KJ, Hathout Y, Chen YW.

J Genet Syndr Gene Ther. 2016 Aug;7(4). pii: 303. Epub 2016 Aug 8.

12.

Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy.

Bao B, Maruyama R, Yokota T.

Intractable Rare Dis Res. 2016 Aug;5(3):168-76. doi: 10.5582/irdr.2016.01056. Review.

13.

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE.

BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6.

14.

Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells.

Das S, Chadwick BP.

PLoS One. 2016 Jul 28;11(7):e0160022. doi: 10.1371/journal.pone.0160022. eCollection 2016.

15.

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics.

Chen JC, King OD, Zhang Y, Clayton NP, Spencer C, Wentworth BM, Emerson CP Jr, Wagner KR.

Mol Ther. 2016 Aug;24(8):1405-11. doi: 10.1038/mt.2016.111. Epub 2016 Jun 3.

16.

Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.

Lilljebjörn H, Henningsson R, Hyrenius-Wittsten A, Olsson L, Orsmark-Pietras C, von Palffy S, Askmyr M, Rissler M, Schrappe M, Cario G, Castor A, Pronk CJ, Behrendtz M, Mitelman F, Johansson B, Paulsson K, Andersson AK, Fontes M, Fioretos T.

Nat Commun. 2016 Jun 6;7:11790. doi: 10.1038/ncomms11790.

17.

Transcriptional Inhibitors Identified in a 160,000-Compound Small-Molecule DUX4 Viability Screen.

Choi SH, Bosnakovski D, Strasser JM, Toso EA, Walters MA, Kyba M.

J Biomol Screen. 2016 Aug;21(7):680-8. doi: 10.1177/1087057116651868. Epub 2016 May 31.

18.

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles.

Caron L, Kher D, Lee KL, McKernan R, Dumevska B, Hidalgo A, Li J, Yang H, Main H, Ferri G, Petek LM, Poellinger L, Miller DG, Gabellini D, Schmidt U.

Stem Cells Transl Med. 2016 Sep;5(9):1145-61. doi: 10.5966/sctm.2015-0224. Epub 2016 May 23.

19.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

20.

Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus.

Morioka MS, Kitazume M, Osaki K, Wood J, Tanaka Y.

PLoS One. 2016 Mar 22;11(3):e0151963. doi: 10.1371/journal.pone.0151963. eCollection 2016.

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