2021
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets
DeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.Peer-Reviewed Original ResearchConceptsDevelopmental pleiotropyPTEN-PI3KMTOR pathwayMolecular pathophysiologyPTEN mutationsMolecular similarityTherapeutic targetCommon underlying mechanismNeurodevelopmental disordersUnderlying mechanismTherapeutic promisePleiotropyBiologyPhenotypicMutationsLimited understandingPathwayCommon neurodevelopmental disorderAutism spectrum disorderSimilarityTarget
2020
Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor
S ., Kundishora AJ, Elsamadicy AA, Koo AB, Beckta JM, McGuone D, Erson-Omay EZ, Omay SB. Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor. Surgical Neurology International 2020, 11: 303. PMID: 33093980, PMCID: PMC7568119, DOI: 10.25259/sni_265_2020.Peer-Reviewed Original ResearchNeuroendocrine tumorsSellar metastasisVisual deficitsPrimary pituitary tumorsLung carcinoid tumorEndoscopic endonasal resectionActionable therapeutic targetsWhole-exome sequencingPituitary metastasisFinal pathologyPituitary involvementCarcinoid tumorsEndocrine dysfunctionHistopathological correlatesEndocrine abnormalitiesSystemic tumorsPrimary tumorSuprasellar lesionsMetastatic tumorsSellar tumorsEndonasal resectionPituitary tumorsGastrointestinal tractTherapeutic targetPituitary gland