Cheetham SW, Faulkner GJ, Dinger ME. Overcoming challenges and dogmas to understand the functions of pseudogenes. Nat Rev Genet. 2020;21(3):191–201.

Article  CAS  PubMed  Google Scholar 

Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, Sauvage S, et al. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PloS One. 2009;4(10):e7482.

Article  PubMed  PubMed Central  Google Scholar 

Vanderplanck C, Ansseau E, Charron S, Stricwant S, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A. The FSHD atrophic myotube phenotype is caused by DUX4 expression. PLoS One. 2011;6(10):e26820. https://doi.org/10.1371/journal.pone.0026820.

Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, et al. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord NMD. 2007;17(8):611–23.

Article  PubMed  Google Scholar 

Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A. 2007;104(46):18157–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010;329(5999):1650–3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Himeda CL, Jones PL. The genetics and epigenetics of facioscapulohumeral muscular dystrophy. Annu Rev Genomics Hum Genet. 2019;31(20):265–91.

Article  Google Scholar 

Greco A, Goossens R, van Engelen B, van der Maarel SM. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy. Clin Genet. 2020;97(6):799–814.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lim KRQ, Nguyen Q, Yokota T. DUX4 signalling in the pathogenesis of facioscapulohumeral muscular dystrophy. Int J Mol Sci. 2020;21(3):729.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sharon N, Mor I, Zahavi E, Benvenisty N. DUXO, a novel double homeobox transcription factor, is a regulator of the gastrula organizer in human embryonic stem cells. Stem Cell Res. 2012;9(3):261–9.

Article  CAS  PubMed  Google Scholar 

Sibley CR, Blazquez L, Ule J. Lessons from non-canonical splicing. Nat Rev Genet. 2016;17(7):407–21.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ansseau E, Eidahl JO, Lancelot C, Tassin A, Matteotti C, Yip C, et al. Homologous transcription factors DUX4 and DUX4c associate with cytoplasmic proteins during muscle differentiation. PLoS ONE. 2016;11(1):e0146893.

Article  PubMed  PubMed Central  Google Scholar 

Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, Perlingeiro R, et al. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol. 2008;214(1):87–96.

Article  CAS  PubMed  Google Scholar 

Knopp P, Krom YD, Banerji CRS, Panamarova M, Moyle LA, den Hamer B, et al. DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis. J Cell Sci. 2016;129(20):3816–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barro M, Carnac G, Flavier S, Mercier J, Vassetzky Y, Laoudj-Chenivesse D. Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects J Cell Mol Med. 2010;14(1-2):275–89. https://doi.org/10.1111/j.1582-4934.2008.00368.x.

Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A. Antisense oligonucleotides used to target the DUX4 mRNA as therapeutic approaches in faciosscapulohumeral muscular dystrophy (FSHD). Genes. 2017;8(3):93.

Article  PubMed  PubMed Central  Google Scholar 

Dmitriev P, Stankevicins L, Ansseau E, Petrov A, Barat A, Dessen P, et al. Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. J Biol Chem. 2013;288(49):34989–5002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dmitriev P, Petrov A, Ansseau E, Stankevicins L, Charron S, Kim E, et al. The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. J Biol Chem. 2011;286(52):44620–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

DeSimone AM, Leszyk J, Wagner K, Emerson CP. Identification of the hyaluronic acid pathway as a therapeutic target for facioscapulohumeral muscular dystrophy. Sci Adv. 2019;5(12):eaaw7099.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhu CH, Mouly V, Cooper RN, Mamchaoui K, Bigot A, Shay JW, et al. Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies. Aging Cell. 2007;6(4):515–23.

Article  CAS  PubMed  Google Scholar 

Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, et al. A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. Eur J Hum Genet. 2012;20(4):404–10.

Article  CAS  PubMed  Google Scholar 

Lassche S, Janssen BH, IJzermans T, Fütterer JJ, Voermans NC, Heerschap A, et al. MRI-guided biopsy as a tool for diagnosis and research of muscle disorders. J Neuromuscul Dis. 2018;5(3):315–9.

Article  PubMed  PubMed Central  Google Scholar 

Wiśniewski JR, Zougman A, Nagaraj N, Mann M. Universal sample preparation method for proteome analysis. Nat Methods. 2009;6(5):359–62.

Article  PubMed  Google Scholar 

Cox J, Mann M. MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification. Nat Biotechnol. 2008;26(12):1367–72.

Article  CAS  PubMed  Google Scholar 

Tyanova S, Temu T, Sinitcyn P, Carlson A, Hein MY, Geiger T, et al. The Perseus computational platform for comprehensive analysis of (prote)omics data. Nat Methods. 2016;13(9):731–40.

Article  CAS  PubMed  Google Scholar 

Debauve G, Nonclercq D, Ribaucour F, Wiedig M, Gerbaux C, Leo O, et al. Early expression of the helicase-like transcription factor (HLTF/SMARCA3) in an experimental model of estrogen-induced renal carcinogenesis. Mol Cancer. 2006;5(1):23.

Article  PubMed  PubMed Central  Google Scholar 

Nonclercq D, Liénard V, Zanen J, Laurent G, Toubeau G. Phenotypic variations and dynamic topography of transformed cells in an experimental model of diethylstilbestrol-induced renal tumour in male Syrian hamster. Histochem J. 2002;34(10):487–97.

Article  PubMed  Google Scholar 

Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, et al. DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med. 2013;17(1):76–89.

Article  CAS  PubMed  Google Scholar 

Eidahl J, Hoover M, Branson O, Freitas M, Harper S. Regulation of facioscapulohumeral muscular dystrophy candidate protein DUX4. Neuromuscul Disord. 2017;27:S199.

Article  Google Scholar 

Cadot B, Gache V, Vasyutina E, Falcone S, Birchmeier C, Gomes ER. Nuclear movement during myotube formation is microtubule and dynein dependent and is regulated by Cdc42, Par6 and Par3. EMBO Rep. 2012;13(8):741–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lassche S, Voermans NC, van der Pijl R, van den Berg M, Heerschap A, van Hees H, et al. Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy. Neurology. 2020;94(11):e1157–70.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Banerji CRS, Henderson D, Tawil RN, Zammit PS. Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity. Hum Mol Genet. 2020;29(16):2746–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rayagiri SS, Ranaldi D, Raven A, Mohamad Azhar NIF, Lefebvre O, Zammit PS, et al. Basal lamina remodeling at the skeletal muscle stem cell niche mediates stem cell self-renewal. Nat Commun. 2018;9(1):1075.

Article  PubMed  PubMed Central  Google Scholar 

Ciulla MM, Acquistapace G, Toffetti L, Paliotti R, Ferrero S, Magrini F, et al. Ki67 cytoplasmic expression: observations in normal tissue from heart atrial appendages of healthy rats. Cell Cycle Georget Tex. 2009;8(13):2125.

Article  CAS  Google Scholar 

Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010;6(10):e1001181.

Article  PubMed  PubMed Central  Google Scholar 

Dellinger M, Gèze M. Detection of mitochondrial DNA in living animal cells with fluorescence microscopy. J Microsc. 2001;204(Pt 3):196–202.

Article  CAS  PubMed