Phenotypic complexities of rare heterozygous neurexin-1 deletions
Fernando M, Fan Y, Zhang Y, Tokolyi A, Murphy A, Kammourh S, Deans P, Ghorbani S, Onatzevitch R, Pero A, Padilla C, Williams S, Flaherty E, Prytkova I, Cao L, Knowles D, Fang G, Slesinger P, Brennand K. Phenotypic complexities of rare heterozygous neurexin-1 deletions. Nature 2025, 642: 710-720. PMID: 40205044, DOI: 10.1038/s41586-025-08864-9.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAnimalsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalDNA Copy Number VariationsFemaleGABAergic NeuronsGene DeletionHeterozygoteHumansInduced Pluripotent Stem CellsLoss of Function MutationMaleMiceNeural Cell Adhesion MoleculesPhenotypeSequence DeletionSynapsesConceptsLoss-of-functionGain-of-functionGain-of-function mechanismCopy number variantsSynaptic activityCell type-specific effectsCell adhesion proteinsPrecision medicineIncreased wild-typeSplicing resultsAlternative splicingIsoform repertoireNRXN1 deletionsAberrant splicingHuman induced pluripotent stem cellsPatient-specific mutationsIncreased synaptic activityDecreased synaptic activityMutant isoformsNRXN1Associated with riskPluripotent stem cellsHeterozygous deletionWild-typeDeletion
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