2025
Sex-specific gonadal status determines prefrontal cortex proteome response to tibolone
McGovern A, Arevalo M, Ciordia S, Garcia-Segura L, Barreto G. Sex-specific gonadal status determines prefrontal cortex proteome response to tibolone. Biomedicine & Pharmacotherapy 2025, 190: 118419. PMID: 40779885, DOI: 10.1016/j.biopha.2025.118419.Peer-Reviewed Original ResearchPrefrontal cortexHormone therapyCellular stress response pathwaysStress response pathwaysFemale miceFunctional enrichment analysisSex-SpecificEmotion regulationClinical trialsCytoskeletal functionBrain functionMitochondrial metabolismSex differencesMenopausal hormone therapyResponse pathwaysGonadal hormonesProteomic analysisSynaptic plasticityEnrichment analysisNeurotransmitter signalingMolecular mechanismsFunctional convergenceGonadectomized animalsHormone therapy efficacyNeurodegenerative diseases
2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transport
2020
Comparative Genomics within and across Bilaterians Illuminates the Evolutionary History of ALK and LTK Proto-Oncogene Origination and Diversification
Dornburg A, Wang Z, Wang J, Mo ES, López-Giráldez F, Townsend JP. Comparative Genomics within and across Bilaterians Illuminates the Evolutionary History of ALK and LTK Proto-Oncogene Origination and Diversification. Genome Biology And Evolution 2020, 13: evaa228. PMID: 33196781, PMCID: PMC7851593, DOI: 10.1093/gbe/evaa228.Peer-Reviewed Original ResearchConceptsLeukocyte tyrosine kinaseEvolutionary historyPhylogenetic analysisProtein-coding genesComparative genomic analysisEarly embryonic expressionMetazoan genomesComparative genomicsPhylogenetic contextModel organismsEmbryonic expressionModel speciesHuman genesKey genesGenomic analysisImportant genesMammal systemsFunctional convergenceTyrosine kinaseMolecular homologyGenesFunctional roleVertebratesMammal modelsHomology
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