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Glover TW, Verga V, Rafael J, Barcroft C, Gorski JL, Bawle EV, Higgins JV. Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323. Hum Mol Genet. 1993 Oct;2(10):1717-8. doi: 10.1093/hmg/2.10.1717. PubMed PMID: 8268928.
Chamberlain JS, Rafael JA, Hauser MA, Phelps SF, Corrado K. Analysis of dystrophin expression vectors in transgenic mdx mice. Molecular Genetics, Proceedings of the 19th Annual Symposium of the São Paulo Academy of Sciences. 1994; :77-92.
Rafael JA, Sunada Y, Cole NM, Campbell KP, Faulkner JA, Chamberlain JS. Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform. Hum Mol Genet. 1994 Oct;3(10):1725-33. doi: 10.1093/hmg/3.10.1725. PubMed PMID: 7849695.
Yang B, Jung D, Rafael JA, Chamberlain JS, Campbell KP. Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem. 1995 Mar 10;270(10):4975-8. doi: 10.1074/jbc.270.10.4975. PubMed PMID: 7890602.
Phelps SF, Hauser MA, Cole NM, Rafael JA, Hinkle RT, Faulkner JA, Chamberlain JS. Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet. 1995 Aug;4(8):1251-8. doi: 10.1093/hmg/4.8.1251. PubMed PMID: 7581361.
Rafael JA, Cox GA, Corrado K, Jung D, Campbell KP, Chamberlain JS. Forced expression of dystrophin deletion constructs reveals structure-function correlations. J Cell Biol. 1996 Jul;134(1):93-102. doi: 10.1083/jcb.134.1.93. PubMed PMID: 8698825; PubMed Central PMCID: PMC2120912.
Corrado K, Rafael JA, Mills PL, Cole NM, Faulkner JA, Wang K, Chamberlain JS. Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype. J Cell Biol. 1996 Aug;134(4):873-84. doi: 10.1083/jcb.134.4.873. PubMed PMID: 8769413; PubMed Central PMCID: PMC2120962.
Burgess DL, Rafael JA, Meisler MH, Chamberlain JS. Dlgh1, a mouse homolog of the drosophila discs-large gene, is located on chromosome 16. Mamm Genome. 1996 Aug;7(8):623-4. doi: 10.1007/s003359900187. PubMed PMID: 8678991.
Chao DS, Gorospe JR, Brenman JE, Rafael JA, Peters MF, Froehner SC, Hoffman EP, Chamberlain JS, Bredt DS. Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. J Exp Med. 1996 Aug 1;184(2):609-18. doi: 10.1084/jem.184.2.609. PubMed PMID: 8760814; PubMed Central PMCID: PMC2192729.
Amalfitano AA, Rafael JA, Chamberlain JS. Structure and mutation of the dystrophin gene. In: Lucy J, Brown SC, editors. Dystrophin: Gene, Protein and Cell Biology Cambridge, UK: Cambridge University Press; 1997.
Chamberlain JS, Corrado K, Rafael JA, Cox GA, Hauser M, Lumeng C. Interactions between dystrophin and the sarcolemma membrane. Soc Gen Physiol Ser. 1997;52:19-29. PubMed PMID: 9210217.
Lynch GS, Rafael JA, Hinkle RT, Cole NM, Chamberlain JS, Faulkner JA. Contractile properties of diaphragm muscle segments from old mdx and old transgenic mdx mice. Am J Physiol. 1997 Jun;272(6 Pt 1):C2063-8. doi: 10.1152/ajpcell.1997.272.6.C2063. PubMed PMID: 9227435.
Deconinck AE, Rafael JA, Skinner JA, Brown SC, Potter AC, Metzinger L, Watt DJ, Dickson JG, Tinsley JM, Davies KE. Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell. 1997 Aug 22;90(4):717-27. doi: 10.1016/s0092-8674(00)80532-2. PubMed PMID: 9288751.
Straub V, Rafael JA, Chamberlain JS, Campbell KP. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol. 1997 Oct 20;139(2):375-85. doi: 10.1083/jcb.139.2.375. PubMed PMID: 9334342; PubMed Central PMCID: PMC2139791.
Rafael JA, Tinsley JM, Potter AC, Deconinck AE, Davies KE. Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. Nat Genet. 1998 May;19(1):79-82. doi: 10.1038/ng0598-79. PubMed PMID: 9590295.
Crosbie RH, Straub V, Yun HY, Lee JC, Rafael JA, Chamberlain JS, Dawson VL, Dawson TM, Campbell KP. mdx muscle pathology is independent of nNOS perturbation. Hum Mol Genet. 1998 May;7(5):823-9. doi: 10.1093/hmg/7.5.823. PubMed PMID: 9536086.
Rafael JA, Hutchinson TL, Lumeng CN, Marfatia SM, Chishti AH, Chamberlain JS. Localization of Dlg at the mammalian neuromuscular junction. Neuroreport. 1998 Jun 22;9(9):2121-5. doi: 10.1097/00001756-199806220-00039. PubMed PMID: 9674605.
Porter JD, Rafael JA, Ragusa RJ, Brueckner JK, Trickett JI, Davies KE. The sparing of extraocular muscle in dystrophinopathy is lost in mice lacking utrophin and dystrophin. J Cell Sci. 1998 Jul;111 ( Pt 13):1801-11. doi: 10.1242/jcs.111.13.1801. PubMed PMID: 9625743.
Deconinck N, Rafael JA, Beckers-Bleukx G, Kahn D, Deconinck AE, Davies KE, Gillis JM. Consequences of the combined deficiency in dystrophin and utrophin on the mechanical properties and myosin composition of some limb and respiratory muscles of the mouse. Neuromuscul Disord. 1998 Aug;8(6):362-70. doi: 10.1016/s0960-8966(98)00048-0. PubMed PMID: 9713852.
Rafael JA, Trickett JI, Potter AC, Davies KE. Dystrophin and utrophin do not play crucial roles in nonmuscle tissues in mice. Muscle Nerve. 1999 Apr;22(4):517-9. doi: 10.1002/(sici)1097-4598(199904)22:4<517::aid-mus14>3.0.co;2-6. PubMed PMID: 10204788.
Lumeng CN, Phelps SF, Rafael JA, Cox GA, Hutchinson TL, Begy CR, Adkins E, Wiltshire R, Chamberlain JS. Characterization of dystrophin and utrophin diversity in the mouse. Hum Mol Genet. 1999 Apr;8(4):593-9. doi: 10.1093/hmg/8.4.593. PubMed PMID: 10072426.
Bia BL, Cassidy PJ, Young ME, Rafael JA, Leighton B, Davies KE, Radda GK, Clarke K. Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy. J Mol Cell Cardiol. 1999 Oct;31(10):1857-62. doi: 10.1006/jmcc.1999.1018. PubMed PMID: 10525423.
Rafael JA, Brown SC. Dystrophin and utrophin: genetic analyses of their role in skeletal muscle. Microsc Res Tech. 2000 Feb 1-15;48(3-4):155-66. doi: 10.1002/(SICI)1097-0029(20000201/15)48:3/4<155::AID-JEMT4>3.0.CO;2-0. Review. PubMed PMID: 10679963.
Rafael JA, Townsend ER, Squire SE, Potter AC, Chamberlain JS, Davies KE. Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure. Hum Mol Genet. 2000 May 22;9(9):1357-67. doi: 10.1093/hmg/9.9.1357. PubMed PMID: 10814717.
Rafael JA, Nitta Y, Peters J, Davies KE. Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice. Mamm Genome. 2000 Sep;11(9):725-8. doi: 10.1007/s003350010149. PubMed PMID: 10967129.
Lynch GS, Rafael JA, Chamberlain JS, Faulkner JA. Contraction-induced injury to single permeabilized muscle fibers from mdx, transgenic mdx, and control mice. Am J Physiol Cell Physiol. 2000 Oct;279(4):C1290-4. doi: 10.1152/ajpcell.2000.279.4.C1290. PubMed PMID: 11003610.
Cole MA, Rafael JA, Taylor DJ, Lodi R, Davies KE, Styles P. A quantitative study of bioenergetics in skeletal muscle lacking utrophin and dystrophin. Neuromuscul Disord. 2002 Mar;12(3):247-57. doi: 10.1016/s0960-8966(01)00278-4. PubMed PMID: 11801396.
Hainsey TA, Senapati S, Kuhn DE, Rafael JA. Cardiomyopathic features associated with muscular dystrophy are independent of dystrophin absence in cardiovasculature. Neuromuscul Disord. 2003 May;13(4):294-302. doi: 10.1016/s0960-8966(02)00286-9. PubMed PMID: 12868498.
Sanford JL, Mays TA, Rafael-Fortney JA. CASK and Dlg form a PDZ protein complex at the mammalian neuromuscular junction. Muscle Nerve. 2004 Aug;30(2):164-71. doi: 10.1002/mus.20073. PubMed PMID: 15266631.
Sanford JL, Edwards JD, Mays TA, Gong B, Merriam AP, Rafael-Fortney JA. Claudin-5 localizes to the lateral membranes of cardiomyocytes and is altered in utrophin/dystrophin-deficient cardiomyopathic mice. J Mol Cell Cardiol. 2005 Feb;38(2):323-32. doi: 10.1016/j.yjmcc.2004.11.025. Epub 2005 Jan 22. PubMed PMID: 15698839.
Acharyya S, Butchbach ME, Sahenk Z, Wang H, Saji M, Carathers M, Ringel MD, Skipworth RJ, Fearon KC, Hollingsworth MA, Muscarella P, Burghes AH, Rafael-Fortney JA, Guttridge DC. Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia. Cancer Cell. 2005 Nov;8(5):421-32. doi: 10.1016/j.ccr.2005.10.004. PubMed PMID: 16286249.
Janssen PM, Hiranandani N, Mays TA, Rafael-Fortney JA. Utrophin deficiency worsens cardiac contractile dysfunction present in dystrophin-deficient mdx mice. Am J Physiol Heart Circ Physiol. 2005 Dec;289(6):H2373-8. doi: 10.1152/ajpheart.00448.2005. Epub 2005 Jul 15. PubMed PMID: 16024571.
Gardner KL, Sanford JL, Mays TA, Rafael-Fortney JA. CASK localizes to nuclei in developing skeletal muscle and motor neuron culture models and is agrin-independent. J Cell Physiol. 2006 Jan;206(1):196-202. doi: 10.1002/jcp.20449. PubMed PMID: 15965905.
Zhou L, Porter JD, Cheng G, Gong B, Hatala DA, Merriam AP, Zhou X, Rafael JA, Kaminski HJ. Temporal and spatial mRNA expression patterns of TGF-beta1, 2, 3 and TbetaRI, II, III in skeletal muscles of mdx mice. Neuromuscul Disord. 2006 Jan;16(1):32-8. doi: 10.1016/j.nmd.2005.09.009. Epub 2005 Dec 20. PubMed PMID: 16373085.
Hanft LM, Rybakova IN, Patel JR, Rafael-Fortney JA, Ervasti JM. Cytoplasmic gamma-actin contributes to a compensatory remodeling response in dystrophin-deficient muscle. Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5385-90. doi: 10.1073/pnas.0600980103. Epub 2006 Mar 24. PubMed PMID: 16565216; PubMed Central PMCID: PMC1459364.
Gardner KL, Kearney JA, Edwards JD, Rafael-Fortney JA. Restoration of all dystrophin protein interactions by functional domains in trans does not rescue dystrophy. Gene Ther. 2006 May;13(9):744-51. doi: 10.1038/sj.gt.3302686. PubMed PMID: 16307000.
Baker PE, Kearney JA, Gong B, Merriam AP, Kuhn DE, Porter JD, Rafael-Fortney JA. Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb muscles. Neurogenetics. 2006 May;7(2):81-91. doi: 10.1007/s10048-006-0031-7. Epub 2006 Mar 9. PubMed PMID: 16525850.
Acharyya S, Villalta SA, Bakkar N, Bupha-Intr T, Janssen PM, Carathers M, Li ZW, Beg AA, Ghosh S, Sahenk Z, Weinstein M, Gardner KL, Rafael-Fortney JA, Karin M, Tidball JG, Baldwin AS, Guttridge DC. Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy. J Clin Invest. 2007 Apr;117(4):889-901. doi: 10.1172/JCI30556. Epub 2007 Mar 22. PubMed PMID: 17380205; PubMed Central PMCID: PMC1821069.
Zhou L, Rafael-Fortney JA, Huang P, Zhao XS, Cheng G, Zhou X, Kaminski HJ, Liu L, Ransohoff RM. Haploinsufficiency of utrophin gene worsens skeletal muscle inflammation and fibrosis in mdx mice. J Neurol Sci. 2008 Jan 15;264(1-2):106-11. doi: 10.1016/j.jns.2007.08.029. Epub 2007 Sep 24. PubMed PMID: 17889902; PubMed Central PMCID: PMC2696235.
Mays TA, Binkley PF, Lesinski A, Doshi AA, Quaile MP, Margulies KB, Janssen PM, Rafael-Fortney JA. Claudin-5 levels are reduced in human end-stage cardiomyopathy. J Mol Cell Cardiol. 2008 Jul;45(1):81-7. doi: 10.1016/j.yjmcc.2008.04.005. Epub 2008 Apr 25. PubMed PMID: 18513742.
Sanford JL, Mays TA, Varian KD, Wilson JB, Janssen PM, Rafael-Fortney JA. Truncated CASK does not alter skeletal muscle or protein interactors. Muscle Nerve. 2008 Sep;38(3):1116-27. doi: 10.1002/mus.20993. PubMed PMID: 18642383.
Mays TA, Sanford JL, Hanada T, Chishti AH, Rafael-Fortney JA. Glutamate receptors localize postsynaptically at neuromuscular junctions in mice. Muscle Nerve. 2009 Mar;39(3):343-9. doi: 10.1002/mus.21099. PubMed PMID: 19208409; PubMed Central PMCID: PMC3959828.
Periasamy M, Rafael-Fortney JA. Somatic gene therapy to treat heart failure is one step closer to reality. Cardiovasc Res. 2009 Jun 1;82(3):383-4. doi: 10.1093/cvr/cvp115. Epub 2009 Apr 8. PubMed PMID: 19357139.
Varian KD, Kijtawornrat A, Gupta SC, Torres CA, Monasky MM, Hiranandani N, Delfin DA, Rafael-Fortney JA, Periasamy M, Hamlin RL, Janssen PM. Impairment of diastolic function by lack of frequency-dependent myofilament desensitization rabbit right ventricular hypertrophy. Circ Heart Fail. 2009 Sep;2(5):472-81. doi: 10.1161/CIRCHEARTFAILURE.109.853200. Epub 2009 Jul 21. PubMed PMID: 19808378; PubMed Central PMCID: PMC2768816.
Verhaert D, Richards K, Rafael-Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging. 2011 Jan;4(1):67-76. doi: 10.1161/CIRCIMAGING.110.960740. Review. PubMed PMID: 21245364; PubMed Central PMCID: PMC3057042.
Xu Y, Delfín DA, Rafael-Fortney JA, Janssen PM. Lengthening-contractions in isolated myocardium impact force development and worsen cardiac contractile function in the mdx mouse model of muscular dystrophy. J Appl Physiol (1985). 2011 Feb;110(2):512-9. doi: 10.1152/japplphysiol.00253.2010. Epub 2010 Dec 2. PubMed PMID: 21127205; PubMed Central PMCID: PMC3043794.
Peterson JM, Kline W, Canan BD, Ricca DJ, Kaspar B, Delfín DA, DiRienzo K, Clemens PR, Robbins PD, Baldwin AS, Flood P, Kaumaya P, Freitas M, Kornegay JN, Mendell JR, Rafael-Fortney JA, Guttridge DC, Janssen PM. Peptide-based inhibition of NF-κB rescues diaphragm muscle contractile dysfunction in a murine model of Duchenne muscular dystrophy. Mol Med. 2011 May-Jun;17(5-6):508-15. doi: 10.2119/molmed.2010.00263. Epub 2011 Jan 20. PubMed PMID: 21267511; PubMed Central PMCID: PMC3105127.
Delfín DA, Xu Y, Peterson JM, Guttridge DC, Rafael-Fortney JA, Janssen PM. Improvement of cardiac contractile function by peptide-based inhibition of NF-κB in the utrophin/dystrophin-deficient murine model of muscular dystrophy. J Transl Med. 2011 May 17;9:68. doi: 10.1186/1479-5876-9-68. PubMed PMID: 21586145; PubMed Central PMCID: PMC3212940.
Rafael-Fortney JA, Chimanji NS, Schill KE, Martin CD, Murray JD, Ganguly R, Stangland JE, Tran T, Xu Y, Canan BD, Mays TA, Delfín DA, Janssen PM, Raman SV. Early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in Duchenne muscular dystrophy mice. Circulation. 2011 Aug 2;124(5):582-8. doi: 10.1161/CIRCULATIONAHA.111.031716. Epub 2011 Jul 18. PubMed PMID: 21768542; PubMed Central PMCID: PMC3150227.
Delfín DA, Xu Y, Schill KE, Mays TA, Canan BD, Zang KE, Barnum JA, Janssen PM, Rafael-Fortney JA. Sustaining cardiac claudin-5 levels prevents functional hallmarks of cardiomyopathy in a muscular dystrophy mouse model. Mol Ther. 2012 Jul;20(7):1378-83. doi: 10.1038/mt.2012.81. Epub 2012 May 1. PubMed PMID: 22547149; PubMed Central PMCID: PMC3392970.
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