Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A 英文参考文献.docVIP

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Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A 英文参考文献.doc

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Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A 英文参考文献

GeneExpressionProfilinginLimb-GirdleMuscular Dystrophy2A AmetsSa′enz1*,MargaritaAzpitarte1,Rube′nArman?anzas2,FranceLeturcq3,AinhoaAlzualde1,In?aki Inza2,FedericoGarc?′a-Bragado4,GasparDelaHerran5,Julia′nCorcuera5,AnaCabello6 ,Carmen Navarro7,CarolinaDelaTorre8,EduardGallardo8,IsabelIlla9,AdolfoLo′pezdeMunain10 1ExperimentalUnit,HospitalDonostia,Donostia-SanSebastia′n, BasqueCountry,Spain,2DepartmentofComputerScienceandArtificialIntelligence,ComputerScience Faculty,UniversityoftheBasqueCountry,SanSebastia′n,BasqueCountry,Spain,3LaboratoiredeBiochimieetGe′ne′tiqueMole′culaire,Ho?pitalCochin,GroupeHospitalier Pitie′-Salpe?trie`re, Paris, France, 4Department of Pathology, Hospital Virgen del Camino, Pamplona, Spain, 5Department of Orthopedic Surgery, Hospital Donostia, Donostia-SanSebastia′n,BasqueCountry,Spain,6DepartmentofPathology,Hospital12deOctubre,Madrid,Spain,7DepartmentofPathology,HospitalMeixoeiro,Vigo, Spain,8LaboratoryofExperimentalNeurology,HospitaldelaSantaCreuiSantPau,Barcelona,Spain,9DepartmentofNeurology,HospitaldelaSantaCreuiSantPau, Barcelona,Spain,10DepartmentofNeurology,HospitalDonostia,Donostia-SanSebastia′n, BasqueCountry,Spain Abstract Limb-girdlemusculardystrophytype2A(LGMD2A)isarecessivegeneticdisordercausedbymutationsincalpain3(CAPN3). Calpain3playsdifferentrolesinmuscularcells,butlittleisknownaboutitsfunctionsorinvivosubstrates.Theaimofthis studywastoidentifythegenesshowinganaltered expressioninLGMD2Apatients andthepossible pathwaystheyare implicated in. Ten muscle samples from LGMD2A patients with in which molecular diagnosis was ascertained were investigated using array technology to analyze gene expression profiling as compared to ten normal muscle samples. Upregulatedgenesweremostlythoserelatedtoextracellularmatrix(differentcollagens),celladhesion(fibronectin),muscle development (myosins and melusin) and signal transduction. It is therefore suggested that different proteins located or participating in the costameric region a