PMC Links for OMIM (Select 606009) - PMC

Select item 65451551.

Loss of DUX causes minor defects in zygotic genome activation and is compatible with mouse development

Zhiyuan Chen, Yi Zhang

Nat Genet. Author manuscript; available in PMC 2019 Nov 27.

Published in final edited form as: Nat Genet. 2019 Jun; 51(6): 947–951. Published online 2019 May 27. doi: 10.1038/s41588-019-0418-7

PMCID:: PMC6545155

Article PDF–1.0M

Select item 46778222.

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, Silvère M. van der Maarel

Science. Author manuscript; available in PMC 2015 Dec 14.

Published in final edited form as: Science. 2010 Sep 24; 329(5999): 1650–1653. Published online 2010 Aug 19. doi: 10.1126/science.1189044

PMCID:: PMC4677822

Abstract Article PDF–713K

Select item 40987643.

DUX4, a Candidate Gene for Facioscapulohumeral Muscular Dystrophy, Causes p53-Dependent Myopathy In Vivo

Lindsay M. Wallace, Sara E. Garwick, Wenyan Mei, Alexandra Belayew, Frederique Coppee, Katherine J. Ladner, Denis Guttridge, Jing Yang, Scott Q. Harper

Ann Neurol. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Ann Neurol. 2011 Mar; 69(3): 540–552. Published online 2010 Dec 8. doi: 10.1002/ana.22275

PMCID:: PMC4098764

Abstract Article PDF–624K

Select item 36710954.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin-Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke M. Aartsma-Rus, Rune R. Frants, Marianne de Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Bert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel

Nat Genet. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1370–1374. Published online 2012 Nov 11. doi: 10.1038/ng.2454

PMCID:: PMC3671095

Abstract Article PDF–670K

Select item 33508595.

A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy

Daphne S. Cabianca, Valentina Casa, Beatrice Bodega, Alexandros Xynos, Enrico Ginelli, Yujiro Tanaka, Davide Gabellini

Cell. 2012 May 11; 149(4): 819–831. doi: 10.1016/j.cell.2012.03.035

PMCID:: PMC3350859

Abstract Article

Select item 32648086.

DUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy

Linda N. Geng, Zizhen Yao, Lauren Snider, Abraham P. Fong, Jennifer N. Cech, Janet M Young, Silvere M. van der Maarel, Walter L. Ruzzo, Robert C. Gentleman, Rabi Tawil, Stephen J. Tapscott

Dev Cell. Author manuscript; available in PMC 2013 Jan 17.

Published in final edited form as: Dev Cell. 2012 Jan 17; 22(1): 38–51. Published online 2011 Dec 29. doi: 10.1016/j.devcel.2011.11.013

PMCID:: PMC3264808

Abstract Article PDF–1.9M

Select item 32479397.

The Krüppel-like Factor 15 as a Molecular Link between Myogenic Factors and a Chromosome 4q Transcriptional Enhancer Implicated in Facioscapulohumeral Dystrophy

Petr Dmitriev, Andrei Petrov, Eugenie Ansseau, Luiza Stankevicins, Sébastien Charron, Elena Kim, Tomas Jan Bos, Thomas Robert, Ahmed Turki, Frédérique Coppée, Alexandra Belayew, Vladimir Lazar, Gilles Carnac, Dalila Laoudj, Marc Lipinski, Yegor S. Vassetzky

J Biol Chem. 2011 Dec 30; 286(52): 44620–44631. Published online 2011 Sep 21. doi: 10.1074/jbc.M111.254052

PMCID:: PMC3247939

Abstract Article PDF–2.5M

Select item 29657618.

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Lauren Snider, Linda N. Geng, Richard J. L. F. Lemmers, Michael Kyba, Carol B. Ware, Angelique M. Nelson, Rabi Tawil, Galina N. Filippova, Silvère M. van der Maarel, Stephen J. Tapscott, Daniel G. Miller

PLoS Genet. 2010 Oct; 6(10): e1001181. Published online 2010 Oct 28. doi: 10.1371/journal.pgen.1001181

PMCID:: PMC2965761

Abstract Article PDF–3.6M

Select item 26946909.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Lauren Snider, Amy Asawachaicharn, Ashlee E. Tyler, Linda N. Geng, Lisa M. Petek, Lisa Maves, Daniel G. Miller, Richard J.L.F. Lemmers, Sara T. Winokur, Rabi Tawil, Silvère M. van der Maarel, Galina N. Filippova, Stephen J. Tapscott

Hum Mol Genet. 2009 Jul 1; 18(13): 2414–2430. Published online 2009 Apr 9. doi: 10.1093/hmg/ddp180

PMCID:: PMC2694690

Abstract Article PDF–764K

Select item 263972310.

The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea M. Foerster, Delphine Rondier, Sabrina Sacconi, Claude Desnuelle, Eric Gilson, Frédérique Magdinier

PLoS Genet. 2009 Feb; 5(2): e1000394. Published online 2009 Feb 27. doi: 10.1371/journal.pgen.1000394

PMCID:: PMC2639723

Abstract Article PDF–451K

Select item 257218211.

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

Darko Bosnakovski, Zhaohui Xu, Eun Ji Gang, Cristi L Galindo, Mingju Liu, Tugba Simsek, Harold R Garner, Siamak Agha-Mohammadi, Alexandra Tassin, Frédérique Coppée, Alexandra Belayew, Rita R Perlingeiro, Michael Kyba

EMBO J. 2008 Oct 22; 27(20): 2766–2779. Published online 2008 Oct 2. doi: 10.1038/emboj.2008.201

PMCID:: PMC2572182

Abstract Article PDF–1.8M

Select item 226564212.

Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

Richard J. L. F. Lemmers, Mariëlle Wohlgemuth, Kristiaan J. van der Gaag, Patrick J. van der Vliet, Corrie M. M. van Teijlingen, Peter de Knijff, George W. Padberg, Rune R. Frants, Silvère M. van der Maarel

Am J Hum Genet. 2007 Nov; 81(5): 884–894. Published online 2007 Sep 7. doi: 10.1086/521986

PMCID:: PMC2265642

Abstract Article PDF–835K

Select item 213477713.

A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: Implications for the facio-scapulo-humeral dystrophy

Andrei Petrov, Jeanne Allinne, Iryna Pirozhkova, Dalila Laoudj, Marc Lipinski, Yegor S. Vassetzky

Genome Res. 2008 Jan; 18(1): 39–45. doi: 10.1101/gr.6620908

PMCID:: PMC2134777

Abstract Article PDF–539K

Select item 208431314.

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

Manjusha Dixit, Eugénie Ansseau, Alexandra Tassin, Sara Winokur, Rongye Shi, Hong Qian, Sébastien Sauvage, Christel Mattéotti, Anne M. van Acker, Oberdan Leo, Denise Figlewicz, Marietta Barro, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée, Yi-Wen Chen

Proc Natl Acad Sci U S A. 2007 Nov 13; 104(46): 18157–18162. Published online 2007 Nov 5. doi: 10.1073/pnas.0708659104

PMCID:: PMC2084313

Abstract Article PDF–422K

Select item 195081315.

Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

Jannine Clapp, Laura M. Mitchell, Daniel J. Bolland, Judy Fantes, Anne E. Corcoran, Paul J. Scotting, John A. L. Armour, Jane E. Hewitt

Am J Hum Genet. 2007 Aug; 81(2): 264–279. Published online 2007 Jun 27. doi: 10.1086/519311

PMCID:: PMC1950813

Abstract Article PDF–983K

Select item 168240216.

A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).

S T Winokur, B Schutte, B Weiffenbach, S S Washington, D McElligott, A Chakravarti, J H Wasmuth, M R Altherr

Am J Hum Genet. 1993 Oct; 53(4): 874–880.

PMCID:: PMC1682402

Summary Page Browse PDF–1.0M

Select item 145900517.

Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts

Andrei Petrov, Iryna Pirozhkova, Gilles Carnac, Dalila Laoudj, Marc Lipinski, Yegor S. Vassetzky

Proc Natl Acad Sci U S A. 2006 May 2; 103(18): 6982–6987. Published online 2006 Apr 21. doi: 10.1073/pnas.0511235103

PMCID:: PMC1459005

Abstract Article PDF–1.0M

Select item 128833118.

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

Silvère M. van der Maarel, Giancarlo Deidda, Richard J. L. F. Lemmers, Petra G. M. van Overveld, Michiel van der Wielen, Jane E. Hewitt, Lodewijk Sandkuijl, Bert Bakker, Gert-Jan B. van Ommen, George W. Padberg, Rune R. Frants

Am J Hum Genet. 2000 Jan; 66(1): 26–35. Published online 1999 Dec 22. doi: 10.1086/302730

PMCID:: PMC1288331

Abstract Article PDF–312K

Select item 118214819.

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

Richard J. F. L. Lemmers, Mariëlle Wohlgemuth, Rune R. Frants, George W. Padberg, Eva Morava, Silvère M. van der Maarel

Am J Hum Genet. 2004 Dec; 75(6): 1124–1130. Published online 2004 Oct 4. doi: 10.1086/426035

PMCID:: PMC1182148

Abstract Article PDF–198K

Select item 105060220.

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).

G Deidda, S Cacurri, N Piazzo, L Felicetti

J Med Genet. 1996 May; 33(5): 361–365. doi: 10.1136/jmg.33.5.361

PMCID:: PMC1050602

Summary Page Browse PDF–1.1M

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