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Human genome meeting 2016

43Citations signalées, ce qui n’est pas une note de qualité
177Institutions déclarées
35Pays d’affiliation déclarés

Rattachement africain : us, sg, ca, gb, nz, de, ch, it, ae, mx, jp, dk, au, pe, be, ru, fr, th, nl, hu, in, cn, my, kr, kz, at, tw, ir, sa, Égypte, ua, Maroc, ph, bh, tr. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

ObjectivesFrom the first description by Leo Kanner [1], autism has been an enigmatic neurobehavioral phenomenon.The new genetic/genomic technologies of the past decade have not been as productive as originally anticipated in unveiling the mysteries of autism.The specific etiology of the majority of cases of autism spectrum disorder (ASD) is unknown, although numerous genetic/genomic variants and alterations of diverse cellular functions have been reported.Prompted by this failure, we have investigated whether the metabolomics approach might yield results which could simultaneously lead to a blood-based screening/diagnostic test and to treatment options. MethodsPlasma samples from a clinically well-defined cohort of 100 male individuals, ages 2-16+ years, with ASD and 32 age-matched typically developing (TD) controls were subjected to global metabolomic analysis. ResultsWe have identified more than 25 plasma metabolites among the approximately 650 metabolites analyzed, representing over 70 biochemical pathways, that can discriminate children with ASD as young as 2 years from children that are developing typically.The discriminating power was greatest in the 2-10 year age group and weaker in older age groups.The initial findings were validated in a second cohort of 83 children, males and females, ages 2-10 years, with ASD and 76 age and gender-matched TD children.The discriminant metabolites were associated with several key biochemical pathways suggestive of potential contributions of increased oxidative stress, mitochondrial dysfunction, inflammation and immune dysregulation in ASD.Further, targeted quantitative analysis of a subset of discriminating metabolites using tandem mass spectrometry provided a reliable laboratory method to detect children with ASD. ConclusionMetabolic profiling appears to be a robust technique to identify children with ASD ages 2-10 years and provides insights into the altered metabolic pathways in ASD, which could lead to treatment strategies.

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Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
Human genome meeting 2016
Date Crossref
26/05/2016
Éditeur
Springer Science and Business Media LLC
Type
journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Greenwood Genetic CenterClemson UniversityVA Connecticut Healthcare SystemSingapore Institute for Clinical SciencesNational University of SingaporeUniversity of British ColumbiaKK Women's and Children's HospitalUniversity Hospital Southampton NHS Foundation TrustUniversity of SouthamptonUniversity of AucklandJohns Hopkins UniversityJohns Hopkins MedicineEsslingen University of Applied SciencesGerman Cancer Research CenterHeidelberg UniversityUniversity of GenevaThe University of Texas Rio Grande ValleyLawrence Berkeley National LaboratoryBaylor College of MedicineFederico II University HospitalMetabolon (United States)Tawam HospitalStanford MedicineTulane UniversityThe University of Texas Health Science Center at HoustonRush UniversityNational Institute of Genomic MedicineRIKEN Center for Integrative Medical SciencesUniversity of CopenhagenThe Kids Research Institute AustraliaThe University of Western AustraliaRIKENHarry Perkins Institute of Medical ResearchInstitute of Genetics and CancerUniversity of MichiganUniversity of California, DavisFred Hutch Cancer CenterJackson LaboratoryMcGill UniversityUniversité de SherbrookeThe University of Texas MD Anderson Cancer CenterUniversidad Privada San Juan BautistaEsSALUDAntwerp University HospitalUniversity of Houston SystemThe Jackson Laboratory for Genomic MedicineHôpital du ValaisNew York UniversityUniversity of ConnecticutUniversity Hospital of GenevaSIB Swiss Institute of BioinformaticsInstitute for Information Transmission ProblemsMolecular Oncology (United States)Université Paris CitéHôpital Saint-LouisUniversity of WürzburgMahidol UniversityInvitae (United States)Massachusetts General HospitalTexas Children's HospitalBioNano Genomics (United States)Regeneron (United States)Columbia University Irving Medical CenterGavekal Intelligence Software (France)University of IowaRadboud University NijmegenRadboud University Medical CenterCentre Ophtalmologique d'Imagerie et de LaserUniversity of ArizonaWest Virginia University HospitalsCenter for Inherited Blood DisordersSpiral FoundationUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro”Scuola Internazionale Superiore di Studi AvanzatiNational Human Genome Research InstituteGovernment of Western Australia Department of HealthNational Institutes of HealthNational Center for Advancing Translational SciencesKeio UniversityUniversity of PecsIstituto Superiore di SanitàMayo ClinicWinnMedBaylor UniversityUniversity of Tennessee at KnoxvilleDartmouth CollegeUniversity of New MexicoMurdoch Children's Research InstituteNara Institute of Science and TechnologyCentre for DNA Fingerprinting and DiagnosticsChinese Academy of SciencesBeijing Institute of GenomicsUniversiti of Malaysia SabahShanghai Institutes for Biological SciencesNational University Health SystemUniversiti Teknologi MARAMonash University MalaysiaGenome Research FoundationUCSI UniversityPeter MacCallum Cancer CentreInstitute of Genomics and Integrative BiologyNazarbayev UniversityMedical University of GrazNational Nuclear Center of the Republic of KazakhstanSwift Engineering (United States)Baylor GeneticsDuke UniversityTexas Biomedical Research InstituteUniversity of California, Los AngelesOregon National Primate Research CenterNorth Carolina Museum of Natural SciencesEmory National Primate Research CenterUniversity of PennsylvaniaJackson Memorial HospitalUniversity of Mississippi Medical CenterNational Cancer InstituteSt. Jude Children's Research HospitalUnited States Department of Health and Human ServicesChanghua Christian HospitalFarabi HospitalKing Saud UniversityUniversity of South CarolinaUniversity of Illinois Urbana-ChampaignAin Shams UniversityUmm al-Qura UniversityKing Saud bin Abdulaziz University for Health SciencesKing Faisal Specialist Hospital & Research CentreMaternity and Children's HospitalKing Fahd Medical CityKing Abdullah Medical CityArmed Forces HospitalRIKEN Center for Brain ScienceUniversity of HoustonTechnical University of DenmarkNetaji Subhas Chandra Bose Cancer Research InstituteUniversity of Houston - DowntownNational Institute of Biomedical GenomicsChittaranjan National Cancer InstituteAlexandria UniversityPalo Alto UniversityStanford UniversityID Genomics (United States)New England Biolabs (United States)University of North DakotaMexican Social Security InstituteCentro Médico Nacional La RazaHospital Infantil de México Federico GómezNational Academy of Sciences of UkrainePalladin Institute of BiochemistryCentre Hospitalier Universitaire Hassan IISiberian State Medical UniversityUniversity of the Philippines ManilaPhilippine General HospitalNationwide Children's HospitalUniversity of MaineNational Medical HoldingKing Abdulaziz UniversityPrincess Margaret Cancer CentreNational Center for Biotechnology InformationRoslin InstituteUniversity of EdinburghArabian Gulf UniversityUniversidad Autónoma de Nuevo LeónUniversidad Nacional Autónoma de MéxicoInstituto Nacional de Ciencias Médicas y Nutrición Salvador ZubiránKing Abdulaziz HospitalIstanbul Technical UniversityDNA Diagnostics Center (United States)Watershed CenterVibrant Data (United States)Agilent Technologies (Germany)Agilent Technologies (United Kingdom)Universidad de GuadalajaraSri Venkateswara UniversityUniversity Hospital RegensburgInLeaVeNational University of Pharmacy

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

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