Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages 英文参考文献.docVIP
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Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages 英文参考文献
Age-DependentBrainGeneExpressionandCopy
NumberAnomaliesinAutismSuggestDistinct
PathologicalProcessesatYoungVersusMatureAges
MaggieL.Chow1.,TizianoPramparo1,2.,MaryE.Winn3,4,CynthiaCarterBarnes1,Hai-RiLi5,
LaurenWeiss6,Jian-BingFan7,SarahMurray3,CraigApril7,HaimBelinson2,Xiang-DongFu5,
AnthonyWynshaw-Boris2,NicholasJ.Schork3*, EricCourchesne1*
1Department of Neuroscience, NIH–UCSD Autism Center of Excellence, School of Medicine, University of California San Diego, La Jolla, California, United States of
America, 2Division of Medical Genetics, Department of Pediatrics and Institute of Human Genetics, School of Medicine, University of California San Francisco, San
Francisco,California,UnitedStatesofAmerica,3ScrippsGenomicMedicineandTheScrippsTranslationalSciencesInstitute(STSI),LaJolla,California,UnitedStatesof
America, 4Graduate Program in Biomedical Sciences, Department of Medicine, University of California San Diego, La Jolla, California, United States of America,
5DepartmentofCellularandMolecularMedicine,SchoolofMedicine,UniversityofCaliforniaSanDiego,LaJolla,California,UnitedStatesofAmerica,6Departmentof
Psychiatry,SchoolofMedicine,UniversityofCaliforniaSanFrancisco,SanFrancisco,California,UnitedStatesofAmerica,7Illumina,SanDiego,California,UnitedStatesof
America
Abstract
Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely
unknown.Aberrantbrainovergrowthisawell-replicatedobservationintheautismliterature;butassociation,linkage,and
expressionstudieshavenotidentifiedgeneticfactorsthatexplainthistrajectory.Fewstudieshavehadsufficientstatistical
powertoinvestigatewhole-genomegeneexpressionandgenotypicvariationintheautisticbrain,especiallyinregionsthat
display the greatest growth abnormality. Previous functional genomic studies have identified possible alterations in
transcript levels of genes related to neurodevelopment and immune function. Thus, there is a need for genetic studies
involving key brain r
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