2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
DeSpenza T, Kiziltug E, Allington G, Barson D, McGee S, O’Connor D, Robert S, Mekbib K, Nanda P, Greenberg A, Singh A, Duy P, Mandino F, Zhao S, Lynn A, Reeves B, Marlier A, Getz S, Nelson-Williams C, Shimelis H, Walsh L, Zhang J, Wang W, Prina M, OuYang A, Abdulkareem A, Smith H, Shohfi J, Mehta N, Dennis E, Reduron L, Hong J, Butler W, Carter B, Deniz E, Lake E, Constable R, Sahin M, Srivastava S, Winden K, Hoffman E, Carlson M, Gunel M, Lifton R, Alper S, Jin S, Crair M, Moreno-De-Luca A, Luikart B, Kahle K. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature Neuroscience 2025, 28: 536-557. PMID: 39994410, DOI: 10.1038/s41593-024-01865-3.Peer-Reviewed Original ResearchConceptsNeural progenitor cellsCongenital hydrocephalusCSF dynamicsIncreased CSF productionDe novo mutationsFrequent monogenic causeEverolimus treatmentCSF shuntingNonsurgical treatmentPTEN mutationsAqueductal stenosisInhibitory interneuronsVentriculomegalyProgenitor cellsChoroid plexusMonogenic causeCortical networksIncreased survivalBrain ventriclesCortical deficitsNeural progenitorsGene PTENCSF productionNkx2.1PTEN
2018
Restoration of vision after de novo genesis of rod photoreceptors in mammalian retinas
Yao K, Qiu S, Wang YV, Park SJH, Mohns EJ, Mehta B, Liu X, Chang B, Zenisek D, Crair MC, Demb JB, Chen B. Restoration of vision after de novo genesis of rod photoreceptors in mammalian retinas. Nature 2018, 560: 484-488. PMID: 30111842, PMCID: PMC6107416, DOI: 10.1038/s41586-018-0425-3.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsbeta CateninBlindnessCell CycleCell ProliferationCellular ReprogrammingDisease Models, AnimalFemaleGTP-Binding Protein alpha SubunitsHeterotrimeric GTP-Binding ProteinsMaleMiceNeurogenesisNeurogliaRegenerative MedicineRetinal Rod Photoreceptor CellsStem CellsTranscription FactorsTransducinVisual CortexVisual PathwaysConceptsMĂĽller gliaGene transferMG proliferationRod photoreceptorsMammalian retinaCell fate specificationPopulations of stemSubsequent gene transferFate specificationRetinal stem cellsTranscription factorsRetinal neuronsCell cycleDouble mutant miceRegenerative machineryDe novo genesisÎ’-cateninStem cellsProgenitor cellsRestoration of visionPrimary visual cortexMutant miceAbsence of injuryPhotoreceptorsRetinal injury
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