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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Interactions between dystrophin and the sarcolemma membrane.
Soc Gen Physiol Ser.
1997;52:19-29. PubMed PMID:
9210217.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
What would you like to do?