2015
Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development
Nishimura S, Bilgüvar K, Ishigame K, Sestan N, Günel M, Louvi A. Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development. PLOS ONE 2015, 10: e0124295. PMID: 25875176, PMCID: PMC4398320, DOI: 10.1371/journal.pone.0124295.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornBone Morphogenetic Protein 7Cell MovementChemokine CXCL12CholecystokininCorpus CallosumEmbryo, MammalianGene Expression ProfilingGene Expression Regulation, DevelopmentalHomozygoteHumansInterneuronsMiceMice, KnockoutMidline Thalamic NucleiMutationNeocortexNeuropilin-2Receptor, Cholecystokinin AReceptor, Cholecystokinin BReceptors, N-Methyl-D-AspartateSignal TransductionTranscriptomeConceptsCCK receptorsBrain developmentMammalian neocortical developmentCentral nervous systemCortical interneuron migrationHomozygous mutant miceMammalian brain developmentPeripheral organsReceptor lossCorpus callosumCortical developmentPostnatal brainAbundant neuropeptideNervous systemInterneuron migrationMutant miceEmbryonic neocortexNeocortical developmentReceptorsPeptide hormonesG proteinsCholecystokininReciprocal expressionCCKBRBrain
2009
COL4A1 Mutation in Preterm Intraventricular Hemorrhage
Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR. COL4A1 Mutation in Preterm Intraventricular Hemorrhage. The Journal Of Pediatrics 2009, 155: 743-745. PMID: 19840616, PMCID: PMC2884156, DOI: 10.1016/j.jpeds.2009.04.014.Peer-Reviewed Original ResearchMeSH KeywordsCerebral HemorrhageCollagen Type IVDiseases in TwinsFemaleFollow-Up StudiesGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGestational AgeHumansInfant, NewbornInfant, PrematureInfant, Premature, DiseasesMaleMutationPregnancyTwins, DizygoticUltrasonography, Doppler, TranscranialConceptsIntraventricular hemorrhageCerebral small vessel diseasePreterm Intraventricular HemorrhageSmall vessel diseaseSpectrum of diseaseCommon complicationPreterm infantsPreterm twinsVessel diseaseCOL4A1 mutationsHemorrhageRare variantsDiseaseType IV procollagenCOL4A1MutationsComplicationsInfantsFetuses