Research Publications & Milestones Achieved by the Center

Listing of Publications and Abstracts

The following is a list of publications resulting for the work of the University of Massachusetts Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD:


Human skeletal muscle xenograft as a new preclinical model for muscle disorders
Zhang, Y, King, O.D., Rahimov, F., Jones, T.I., Ward, C.W., Kerr, J.P., Liu, N., Emerson, C.P., Jr., Kunkel, L.M., Partridge, T.A., Wagner, K.R.,  Hum Mol Genet. 2014 Feb 7 PubMed PMID: 24452336, (Epub ahead of print)

A new role for Hedgehogs in juxtacrine signaling.
Pettigrew CA, Asp E, Emerson CP Jr. Mech Dev. 2014 Feb;131:137-49. doi: 10.1016/j.mod.2013.12.002. Epub 2013 Dec 14. PMID: 24342078 [PubMed - in process]


Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer.
Himeda CL, Barro MV, Emerson CP Jr., Dev Biol. 2013 Nov 1;383(1):7-14. doi: 10.1016/j.ydbio.2013.09.006. Epub 2013 Sep 10. PMID: 24036067 [PubMed - indexed for MEDLINE]

Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD),
Stadler, G Rahimov, F.K., King, O.D., Chen, J., Robin, J.D, Wagner, K.R, Shay, J.W., Emerson, C.P. Jr., and Wright, W.E.  Nature Structural and Molecular Biology, 2013 Jun; 20 (6): 671-8 PMCID: PMC 3711615,PMID 23644600.


Expression of DUX4 in zebrafish development recapitulates Facioscapulohumeral muscular dystrophy
Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM 
Hum Mol Genet. 2012 Nov 7. [Epub ahead of print] PMID: 23108159 [Pubmed]

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP Jr, Kunkel LM, Wagner KR 
Proc Natl Acad Sci U S A. 2012 Sep 17. [Epub ahead of print] PMID: 22988124 [Pubmed]

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL.
Human Molecular Genetics 2012; doi: 10.1093/hmg/dds284 PMID: 22798623 [PubMed]

Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease. 
Himeda, C. L. & Emerson, C. P. J. (2012). 
In Muscle: Fundamental Biology and Mechanisms of Disease (Hill, J. A. & Olson, E. N., eds.), Vol. 2, pp. 969-977. Elsevier, Inc.

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. 
Homma, S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP, Jr. & Miller JB
Eur J Hum Genet 2012 20, 404-410 PMCID: PMC3306860 [PubMed]

Optimization of large gel 2D electrophoresis for proteomic studies of skeletal muscle. 
Reed, PW, Densmore A & Bloch RJ
Electrophoresis 2012 33, 1263-1270 PMID: 22589104 [PubMed]

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. 
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M & Tupler R
Am J Hum Genet 2012 90, 628-635. PMCID: PMC3322229 [PubMed]


Peripheral nerve pathology, including aberrant Schwann cell differentiation, is ameliorated by doxycycline in a laminin-{alpha}2-deficient mouse model of congenital muscular dystrophy.
Homma S, Beermann ML, Miller JB. 
Hum Mol Genet. 2011 Jul 1;20(13):2662-72. Epub 2011 Apr 19. PMCID: PMC3110004 [PubMed]

Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.
Rahimov F, King OD, Warsing LC, Powell RE, Emerson CP Jr, Kunkel LM, Wagner KR. 
Physiol Genomics. 2011 Apr 27;43(8):398-407. Epub 2011 Jan 25. PMCID: PMC3092338 [PubMed]

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population. 
Stadler, G., Chen, J. C., Wagner, K., Robin, J. D., Shay, J. W., Emerson, C. P. E. Jr,Wright, WE. 
Skeletal Muscle. 2011 Mar 8;1(1):12. PMCID: PMC3156635 [PubMed]

Prdm1 (Blimp-1) and the expression of fast and slow myosin heavy chain isoforms during avian myogenesis in vitro
Beermann, M. L., Ardelt, M., Girgenrath, M. & Miller, J. B. (2010).  PLoS One 5, e9951. PMCID: PMC2848592

Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy.
Vishnudas, V. K., Miller, J. B. 
Hum Mol Genet. 2009 Dec 1;18(23):4467-77. Epub 2009 Aug 19. PMCID: PMC2773263 [PubMed]

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. 
Arashiro, P., Eisenberg, I., Kho, A. T., Cerqueira, A. M., Canovas, M., Silva, H. C., Pavanello, R. C., Verjovski-Almeida, S., Kunkel, L. M. & Zatz, M. 
Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6220-5. Epub 2009 Apr 1. PMCID: PMC2664154 [PubMed] 

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