<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Sanoudou, D.</style></author><author><style face="normal" font="default" size="100%">Corbett, M. A.</style></author><author><style face="normal" font="default" size="100%">Han, M.</style></author><author><style face="normal" font="default" size="100%">Ghoddusi, M.</style></author><author><style face="normal" font="default" size="100%">Nguyen, M. A.</style></author><author><style face="normal" font="default" size="100%">Vlahovich, N.</style></author><author><style face="normal" font="default" size="100%">Hardeman, E. C.</style></author><author><style face="normal" font="default" size="100%">Beggs, A. H.</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Skeletal muscle repair in a mouse model of nemaline myopathy</style></title><secondary-title><style face="normal" font="default" size="100%">Hum Mol GenetHum Mol GenetHum Mol Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Human molecular genetics</style></alt-title><short-title><style face="normal" font="default" size="100%">Human molecular geneticsHuman molecular genetics</style></short-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease Progression</style></keyword><keyword><style  face="normal" font="default" size="100%">gene expression profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice, Transgenic</style></keyword><keyword><style  face="normal" font="default" size="100%">Microscopy, Electron</style></keyword><keyword><style  face="normal" font="default" size="100%">Muscle, Skeletal/metabolism/*pathology/ultrastructure</style></keyword><keyword><style  face="normal" font="default" size="100%">Myofibrils/metabolism/pathology</style></keyword><keyword><style  face="normal" font="default" size="100%">Myopathies, Nemaline/*metabolism/*pathology</style></keyword><keyword><style  face="normal" font="default" size="100%">Oligonucleotide Array Sequence Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">signal transduction</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2006</style></year><pub-dates><date><style  face="normal" font="default" size="100%">Sep 1</style></date></pub-dates></dates><number><style face="normal" font="default" size="100%">17</style></number><volume><style face="normal" font="default" size="100%">15</style></volume><pages><style face="normal" font="default" size="100%">2603-12</style></pages><isbn><style face="normal" font="default" size="100%">0964-6906 (Print)0964-6906 (Linking)</style></isbn><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available. Although a number of genes have been identified in which mutations can cause NM, the pathogenetic mechanisms leading to the phenotypes are poorly understood. To address this question, we examined gene expression patterns in an NM mouse model carrying the human Met9Arg mutation of alpha-tropomyosin slow (Tpm3). We assessed five different skeletal muscles from affected mice, which are representative of muscles with differing fiber-type compositions, different physiological specializations and variable degrees of pathology. Although these same muscles in non-affected mice showed marked variation in patterns of gene expression, with diaphragm being the most dissimilar, the presence of the mutant protein in nemaline muscles resulted in a more similar pattern of gene expression among the muscles. This result suggests a common process or mechanism operating in nemaline muscles independent of the variable degrees of pathology. Transcriptional and protein expression data indicate the presence of a repair process and possibly delayed maturation in nemaline muscles. Markers indicative of satellite cell number, activated satellite cells and immature fibers including M-Cadherin, MyoD, desmin, Pax7 and Myf6 were elevated by western-blot analysis or immunohistochemistry. Evidence suggesting elevated focal repair was observed in nemaline muscle in electron micrographs. This analysis reveals that NM is characterized by a novel repair feature operating in multiple different muscles.</style></abstract><accession-num><style face="normal" font="default" size="100%">16877500</style></accession-num><notes><style face="normal" font="default" size="100%">Sanoudou, DespinaCorbett, Mark AHan, MeiGhoddusi, MajidNguyen, Mai-Anh TVlahovich, NicoleHardeman, Edna CBeggs, Alan HengNS040828/NS/NINDS NIH HHS/P01 NS040828/NS/NINDS NIH HHS/R01 AR044345/AR/NIAMS NIH HHS/P50 NS040828/NS/NINDS NIH HHS/AR44345/AR/NIAMS NIH HHS/Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEngland2006/08/01 09:00Hum Mol Genet. 2006 Sep 1;15(17):2603-12. doi: 10.1093/hmg/ddl186. Epub 2006 Jul 28.</style></notes><custom2><style face="normal" font="default" size="100%">3372923</style></custom2><auth-address><style face="normal" font="default" size="100%">Program in Genomics and Genetics Division, Children's Hospital Boston, Harvard Medical School, MA 02115, USA.</style></auth-address></record></records></xml>