2021
Sex-dependent role for EPHB2 in brain development and autism-associated behavior
Assali A, Cho JY, Tsvetkov E, Gupta AR, Cowan CW. Sex-dependent role for EPHB2 in brain development and autism-associated behavior. Neuropsychopharmacology 2021, 46: 2021-2029. PMID: 33649502, PMCID: PMC8429442, DOI: 10.1038/s41386-021-00986-8.Peer-Reviewed Original ResearchConceptsLayer V pyramidal neuronsAutism spectrum disorderSex-dependent roleAutism-associated behaviorsAttention deficit hyperactivity disorderPathophysiology of ASDSex-specific effectsNovo nonsense mutationFemale patientsPyramidal neuronsMotor hyperactivityIntrinsic excitabilityCortical functionRepetitive behaviorsSynaptic plasticityRelated disordersMemory deficitsBrain developmentHypofunctionReceptor tyrosine kinasesMiceHyperactivity disorderIntellectual disabilityDisordersEphB2
2014
De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder. Cell Reports 2014, 9: 16-23. PMID: 25284784, PMCID: PMC4194132, DOI: 10.1016/j.celrep.2014.08.068.Peer-Reviewed Original Research