Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome A High Content Analysis Approach Leading to Personalized Medicine 英文参考文献.docVIP

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Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome A High Content Analysis Approach Leading to Personalized Medicine 英文参考文献.doc

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Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome A High Content Analysis Approach Leading to Personalized Medicine 英文参考文献

AndrogenReceptorMutationsAssociatedwith AndrogenInsensitivitySyndrome:AHighContent AnalysisApproachLeadingtoPersonalizedMedicine AdamT.Szafran1,SeanHartig1,HuiyingSun2,IvanP.Uray1,MariaSzwarc1,YuqingShen2,SanjayN. Mediwala2,JenniferBell3,MichaelJ.McPhaul4,MichaelA.Mancini1.*,MarcoMarcelli1,2. * 1DepartmentofMolecularandCellularBiologyandMedicine,BaylorCollegeofMedicine,Houston,Texas,UnitedStatesofAmerica,2MichaelE.DeBakeyVAMedical Center and Department of Medicine, Baylor College of Medicine, Houston, Texas, United States of America, 3Department of Pediatrics, Baylor College of Medicine, Houston,Texas,UnitedStatesofAmerica,4DepartmentofInternalMedicine,DivisionofEndocrinologyandMetabolism,TheUniversityofTexasSouthwesternMedical School,Dallas,Texas,UnitedStatesofAmerica Abstract Androgeninsensitivitysyndrome(AIS)isararediseaseassociatedwithinactivatingmutationsofARthatdisruptmalesexual differentiation,andcauseaspectrumofphenotypicabnormalitieshavingasacommondenominatorlossofreproductive viability. No established treatment exists for these conditions, however there are sporadic reports of patients (or recapitulatedmutationsincelllines)thatrespondtoadministrationofsupraphysiologicdoses(orpulses)oftestosteroneor syntheticligands.Here,weutilizeanovelhighcontentanalysis(HCA)approachtostudyARfunctionatthesinglecelllevel ingenitalskinfibroblasts(GSF).WediscussindetailfindingsinGSFfromthreehistoricalpatientswithAIS,whichinclude identificationofnovelmechanismsofARmalfunction,andthepotentialabilitytoutilizeHCAforpersonalizedtreatmentof patientsaffectedbythiscondition. Citation:SzafranAT,HartigS,SunH,UrayIP,SzwarcM,etal.(2009)AndrogenReceptorMutationsAssociatedwithAndrogenInsensitivitySyndrome:AHigh ContentAnalysisApproachLeadingtoPersonalizedMedicine.PLoSONE4(12):e8179.doi:10.1371/journal.pone.0008179 Editor:JoannaMaryBridger,BrunelUniversity,UnitedKingdom ReceivedJune24,2009;AcceptedSeptember28,2009;PublishedDecember9,2009 Copyright: ? 2009 Szafran et al. This is an open-ac