2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience 2022, 25: 458-473. PMID: 35379995, PMCID: PMC9664907, DOI: 10.1038/s41593-022-01043-3.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCerebral ventricular dilatationPrimary defectNeuroepithelial cell differentiationRisk genesCerebrospinal fluid homeostasisWhole-exome sequencingNeuroepithelial stem cellsCortical hypoplasiaReduced neurogenesisVentricular dilatationVentricular enlargementCH mutationsPrenatal hydrocephalusDisease heterogeneityBrain surgeryCSF circulationHydrocephalusGenetic subtypesFluid homeostasisNeuroepithelial cellsNovo mutationsBrain transcriptomicsStem cellsCell differentiation
2021
Radial Glial Cells: New Views on Old Questions
Arellano JI, Morozov YM, Micali N, Rakic P. Radial Glial Cells: New Views on Old Questions. Neurochemical Research 2021, 46: 2512-2524. PMID: 33725233, PMCID: PMC8855517, DOI: 10.1007/s11064-021-03296-z.Peer-Reviewed Original ResearchConceptsGlial fibrillary acidic proteinRadial glial cellsNeuroepithelial cellsGFAP expressionFibrillary acidic proteinMigration of neuronsProcess of neurogenesisGlial featuresGlial cellsEmbryonic cerebrumCortical neurogenesisMacaque monkeysPial surfaceAcidic proteinEpithelial featuresBrain developmentNeurogenesisVentricular surfaceTight junctionsCerebrumNeuronsUltrastructural analysisFirst descriptionBrainVertebrate brain
2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.Peer-Reviewed Original ResearchConceptsCell divisionFamily-based linkage analysisLinkage analysisRho effector proteinsLinear actin filamentsMaintenance of polarityMitotic cell divisionHigh-throughput sequencingRare genetic variantsHuman neuronal precursor cellsParametric multipoint linkage analysisActivation of GTPNeuronal precursor cellsFormin familyMammalian DiaphanousEffector proteinsMultipoint linkage analysisSpindle formationActin filamentsNonsense alterationWhole-exome sequencingHuman pathologiesNeuroepithelial cellsGenetic variantsHomozygous loss
2011
Cell organization, growth, and neural and cardiac development require αII-spectrin
Stankewich MC, Cianci CD, Stabach PR, Ji L, Nath A, Morrow JS. Cell organization, growth, and neural and cardiac development require αII-spectrin. Journal Of Cell Science 2011, 124: 3956-3966. PMID: 22159418, PMCID: PMC3244980, DOI: 10.1242/jcs.080374.Peer-Reviewed Original ResearchMeSH KeywordsActinsAnimalsAnkyrinsAxonsBody PatterningCarrier ProteinsCell MembraneCell PolarityCell ProliferationCraniofacial AbnormalitiesEmbryo, MammalianEmbryonic DevelopmentFemaleFibroblastsGene DeletionHeart Defects, CongenitalMaleMiceMice, Inbred C57BLMicrofilament ProteinsNeural Tube DefectsNeuroepithelial CellsPhenotypeProtein StabilityPseudopodiaSpectrinConceptsΑII-spectrinSteady-state protein levelsΒIII spectrinEmbryonic day 12.5Tissue patterningRenal epithelial cellsEmbryonic lethalCortical actinOrgan developmentAnkyrin BExon trappingEmbryonic fibroblastsTranscriptional levelΒ-spectrinCardiac developmentCell organizationCell spreadingAxon formationNeural tubeHeterozygous animalsTargeted disruptionApical membraneNeuroepithelial cellsDay 12.5Cell morphologyThe Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. American Journal Of Human Genetics 2011, 88: 523-535. PMID: 21529752, PMCID: PMC3146716, DOI: 10.1016/j.ajhg.2011.03.019.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell Cycle ProteinsCentrosomeCerebral CortexChild, PreschoolDNA Mutational AnalysisEpithelial CellsExonsFemaleGenetic LinkageHeLa CellsHomozygoteHumansInfantMaleMiceMicrocephalyMicrotubule-Associated ProteinsMutationNeural Stem CellsNeurogenesisNeuronsPhenotypePregnancyRNA, MessengerTransfectionConceptsCortical laminationPatient-derived cell linesDistinct homozygous mutationsProfound mental retardationCerebral cortexCerebral cortex neurogenesisMouse embryonic brainNeuron productionBrain scansPostmortem dataEmbryonic brainNeural precursorsHomozygous mutationNeuroepithelial cellsNeurogenesisPatient cellsMental retardationExtreme microcephalyAffected individualsEarly neurogenesisCell linesT mutationPakistani originBrainTurkish family
2010
Neuroendocrine Properties of the Ciliary Epithelium
Coca-Prados M. Neuroendocrine Properties of the Ciliary Epithelium. 2010, 107-112. DOI: 10.1016/b978-0-12-374203-2.00088-9.Peer-Reviewed Original ResearchCiliary epitheliumAqueous humorOcular hypotensive actionSame embryological originRetinal pigment epitheliumEye aqueous humorOcular ciliary epitheliumHypotensive actionAqueous humor secretionAnterior segmentEndocrine factorsPigment epitheliumNeuroendocrine propertiesEndocrine systemEmbryological originNeuroepithelial cellsEpitheliumAvascular tissueNeuropeptidesBioactive peptidesCellsCell communicationRetinaHormoneSecretion
2008
Early Neuronal and Glial Fate Restriction of Embryonic Neural Stem Cells
Delaunay D, Heydon K, Cumano A, Schwab M, Thomas J, Suter U, Nave K, Zalc B, Spassky N. Early Neuronal and Glial Fate Restriction of Embryonic Neural Stem Cells. Journal Of Neuroscience 2008, 28: 2551-2562. PMID: 18322099, PMCID: PMC6671176, DOI: 10.1523/jneurosci.5497-07.2008.Peer-Reviewed Original ResearchConceptsGlial cellsEmbryonic neural stem cellsNeuronal progenitor cellsFate restrictionRadial glial cellsEmbryonic developmentNeural stem cellsNeuroepithelial progenitorsFate mappingNeuronal precursorsNeuroepithelial cellsNeurogenic periodStem cellsClonal analysisGlial precursorsProgenitor cellsGliogenic periodCellsProteolipid proteinNew poolDifferent time pointsLater stagesEmbryogenesis
2002
Functional motor microdomains of the outer hair cell lateral membrane
Santos-Sacchi J. Functional motor microdomains of the outer hair cell lateral membrane. Pflügers Archiv - European Journal Of Physiology 2002, 445: 331-336. PMID: 12466934, DOI: 10.1007/s00424-002-0928-4.Peer-Reviewed Original ResearchConceptsOperating voltage rangeLateral membranesMammalian inner earOuter hair cell lateral membraneOuter hair cellsMotor proteinsFunctional variationMechanical deformationNeuroepithelial cellsVoltage rangeMicrodomainsWhole cellsMidpoint voltageHair cellsMotor chargeCell characteristicsMembraneCellsNonlinear capacitanceInner ear
1998
Multiple Restricted Origin of Oligodendrocytes
Spassky N, Goujet-Zalc C, Parmantier E, Olivier C, Martinez S, Ivanova A, Ikenaka K, Macklin W, Cerruti I, Zalc B, Thomas J. Multiple Restricted Origin of Oligodendrocytes. Journal Of Neuroscience 1998, 18: 8331-8343. PMID: 9763477, PMCID: PMC6792828, DOI: 10.1523/jneurosci.18-20-08331.1998.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsbeta-GalactosidaseBiomarkersBleomycinBrain ChemistryCell DifferentiationCell LineageCells, CulturedCentral Nervous SystemCloning, MolecularDNA-Binding ProteinsDrug Resistance, MicrobialFemaleGene Expression Regulation, DevelopmentalLac OperonMaleMiceMice, TransgenicNeuronsOligodendrogliaReceptors, Platelet-Derived Growth FactorStem CellsTranscription FactorsTransgenes
1997
Molecular Characterization and Differential Gene Induction of the Neuroendocrine‐Specific Genes Neurotensin, Neurotensin Receptor, PC1, PC2, and 7B2 in the Human Ocular Ciliary Epithelium
Ortego J, Coca‐Prados M. Molecular Characterization and Differential Gene Induction of the Neuroendocrine‐Specific Genes Neurotensin, Neurotensin Receptor, PC1, PC2, and 7B2 in the Human Ocular Ciliary Epithelium. Journal Of Neurochemistry 1997, 69: 1829-1839. PMID: 9349525, DOI: 10.1046/j.1471-4159.1997.69051829.x.Peer-Reviewed Original ResearchMeSH KeywordsAspartic Acid EndopeptidasesCell LineCiliary BodyColforsinDexamethasoneDNA PrimersEnzyme InductionEpithelial CellsFurinGene Expression RegulationHumansIsoproterenolModels, BiologicalNerve Growth FactorsNeurosecretory SystemsNeurotensinPolymerase Chain ReactionProprotein Convertase 2Proprotein ConvertasesReceptors, NeurotensinSubtilisinsTetradecanoylphorbol AcetateTimololTranscriptional ActivationUp-RegulationConceptsOcular ciliary epitheliumDifferential gene inductionImportant physiological functionsHuman ocular ciliary epitheliumHuman cell linesTransduction pathwaysGene inductionGene expressionCiliary epitheliumBeta2-adrenergic receptorMolecular characterizationPhysiological functionsCell extractsODM-2Human ciliary epitheliumNeuroepithelial cellsSame inducersPhorbol esterCell linesNeuroendocrine tissuesExpressionGrowth factorParacrine mechanismsPC2 expressionNerve growth factor
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