2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics 2018, 50: 1093-1101. PMID: 30013181, PMCID: PMC6072555, DOI: 10.1038/s41588-018-0166-0.Peer-Reviewed Original ResearchConceptsNeuronal migrationHuman cerebral cortexCortical neuronal migrationΒ-catenin signalingCerebral cortexPotential disease mechanismsDevelopmental brain defectsBiallelic truncating mutationsNeuronal phenotypeBiallelic lossBrain defectsBiallelic mutationsTruncating mutationsDisease mechanismsΒ-cateninPachygyriaRecessive formNeurite stabilityNeuronsFamily membersCTNNA2OveractivityPatients
2014
TARV: Tree‐based Analysis of Rare Variants Identifying Risk Modifying Variants in CTNNA2 and CNTNAP2 for Alcohol Addiction
Song C, Zhang H. TARV: Tree‐based Analysis of Rare Variants Identifying Risk Modifying Variants in CTNNA2 and CNTNAP2 for Alcohol Addiction. Genetic Epidemiology 2014, 38: 552-559. PMID: 25041903, PMCID: PMC4154634, DOI: 10.1002/gepi.21843.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSequence kernel association testRare variant dataTree-based analysisRare variantsNext-generation sequencing technologiesVariant dataGeneration sequencing technologyKernel association testGene-gene interactionsSequencing technologiesMultiple genesAssociation studiesDisease modelsRisk genesCTNNA2Genetic variantsSAGE dataComplex disease modelsGenesStudy of AddictionComplex diseasesCommon variantsSpecific variantsRisk of alcoholism
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