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Items: 8

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1.

Facioscapulohumeral Muscular Dystrophy.

Lemmers RJLF, Miller DG, van der Maarel SM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Mar 8 [updated 2014 Mar 20].

2.

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.

Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9.

3.

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62. Epub 2007 Nov 5.

4.

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.

Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, Scotting PJ, Armour JA, Hewitt JE.

Am J Hum Genet. 2007 Aug;81(2):264-79. Epub 2007 Jun 27.

5.

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.

Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL.

Neuromuscul Disord. 2007 Aug;17(8):611-23. Epub 2007 Jun 27.

PMID:
17588759
6.

Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.

Beckers M, Gabriëls J, van der Maarel S, De Vriese A, Frants RR, Collen D, Belayew A.

Gene. 2001 Feb 7;264(1):51-7.

PMID:
11245978
7.

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.

Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A.

Gene. 1999 Aug 5;236(1):25-32.

PMID:
10433963
8.
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