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1、EuropeanJournalofHeartFailure(2013)15,267276doi:10.1093/eurjhf/hfs178AnovelgeneticvariantinthetranscriptionfactorIslet-1exertsgainoffunctiononmyocyteenhancerfactor2CpromoteractivityFelixW.Friedrich1,GillesDilanian2,8,PatriciaKhattar3,8,DeniseJuhr1,LucieGueneau3,8,PhilippeCharron2,5,8,Ve
2、´roniqueFressart2,4,Jean-ThomasVilquin3,8,RichardIsnard5,8,LaurentGouya5,PascaleRichard2,4,NaimaHammoudi7,MichelKomajda2,5,8,Gise`leBonne3,8,ThomasEschenhagen1,OlivierDubourg5,EricVillard2,andLucieCarrier1,3,8*1DepartmentofExperimentalPharmacologyandToxicology,CardiovascularResearchCent
3、er,UniversityMedicalCenterHamburg-Eppendorf,Hamburg,GermanyandDZHK23(GermanCentreforCardiovascularResearch),partnersiteHamburg/Kiel/Lu¨beck,Germany;INSERM,U956,Paris,France;INSERM,U974;CNRS,UMR7215;UPMCUM76;45InstitutdeMyologie,Paris,France;AP-HP,UFCardioge´ne´tiqueetMyoge´ne´tique,Grou
4、peHospitalierPitie´-Salpetrie`re,Paris,France;AP-HP,InstitutdeCardiologie,Groupe67HospitalierPitie´-Salpetrie`re,Paris,France;AP-HP,ServicedeCardiologie,HopitalAmbroisePare´,Boulogne,France;ServicedeCardiologie,EHSMaouche(ex.CNMSde8Benaknoun),Alger,Algeria;andUPMCUniversite´Paris06,IFR1
5、4,Paris,FranceReceived7March2012;revised6July2012;accepted5October2012;onlinepublish-ahead-of-print14November2012AimsThetranscriptionfactorIslet-1(ISL1)isamarkerofcardiovascularprogenitorsandisessentialformammaliancar-diogenesis.AnISL1haplotypehasrecentlybeenassociatedwithcongenitalhear
6、tdisease.InthisstudyweevaluatedwhetherISL1variantsareassociatedwithhypertrophic(HCM),dilated(DCM),arrhythmogenicrightventricularcar-diomyopathy(ARVC),orwithEmeryDreifussmusculardystrophy(EDMD)...............................................................................................
7、.......................................................................................MethodsThesixexonandintronboundariesofISL1werescreenedforgeneticvariantsinacohortof454indexcases.ElevenandresultsexonicvariantswereidentifiedinHCM,DCM,ARVC,and/orEDMD.Outofthefivenovelvariants,
