2015
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
Cotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, Liu W, Klei L, Lei J, Yin J, Reilly SK, Tebbenkamp AT, Bichsel C, Pletikos M, Sestan N, Roeder K, State MW, Devlin B, Noonan JP. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nature Communications 2015, 6: 6404. PMID: 25752243, PMCID: PMC4355952, DOI: 10.1038/ncomms7404.Peer-Reviewed Original ResearchConceptsASD risk genesRisk genesRegulatory networksAncient gene regulatory networksHuman neural stem cellsLoss of CHD8Specific regulatory networksGene regulatory networksCo-expression networkAutism risk genesEmbryonic mouse cortexChromatin modifiersIdentification of recurrentChromodomain-HelicaseChd8 knockdownNeural stem cellsMouse neurodevelopmentCHD8Human brain developmentFunction mutationsGenesStem cellsHuman neurodevelopmentNovo lossBrain development
2013
Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome
Singh R, Smith E, Fathzadeh M, Liu W, Go G, Subrahmanyan L, Faramarzi S, McKenna W, Mani A. Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome. Human Mutation 2013, 34: 1221-1225. PMID: 23703864, PMCID: PMC3745535, DOI: 10.1002/humu.22360.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCoronary DiseaseEuropeFemaleGenetic Predisposition to DiseaseGenetic VariationGlycosylationHumansLow Density Lipoprotein Receptor-Related Protein-6MaleMetabolic SyndromeMiddle AgedMutationPedigreePhylogenySequence AlignmentUnited StatesWnt ProteinsYoung AdultConceptsCoronary artery diseaseMetabolic syndromeLRP6 mutationFamilial coronary artery diseaseArtery diseaseDisease populationSyndromeConserved glycosylation siteNovel mutationsFunction mutationsPropeller domainRare mutationsEuropean controlsLRP6MutationsCritical roleMetabolic traitsWhite AmericansPrevalenceDisease