2025
Resolving the three-dimensional interactome of human accelerated regions during human and chimpanzee neurodevelopment
Pal A, Noble M, Morales M, Pal R, Baumgartner M, Yang J, Yim K, Uebbing S, Noonan J. Resolving the three-dimensional interactome of human accelerated regions during human and chimpanzee neurodevelopment. Cell 2025, 188: 1504-1523.e27. PMID: 39889695, PMCID: PMC11928272, DOI: 10.1016/j.cell.2025.01.007.Peer-Reviewed Original Research
2024
184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry
DeSpenza T, Kizlitug E, Allington G, Barson D, O'Connor D, Robert S, Mekbib K, Singh A, Phan D, Nanda P, Mandino F, Constable T, Lake E, Carter B, Gunel M, Lifton R, Luikart B, Kahle K. 184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry. Neurosurgery 2024, 70: 46-46. DOI: 10.1227/neu.0000000000002809_184.Peer-Reviewed Original ResearchWhole-exome sequencingFetal ventriculomegalyCongenital hydrocephalusExome sequencingChoroid plexus hyperplasiaMutated genesCa2+ imagingMutant mouse modelsPTEN mutantsHuman fetal brainPten mutant miceSporadic CHCerebral ventriculomegalyCSF diversionObstructive hydrocephalusCH patientsCSF secretionPharmacological mTORC1 inhibitionNeurodevelopmental assessmentRadiographic biomarkersFetal brainPTEN mutationsAqueductal stenosisPTEN deletionVentriculomegaly
2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Singh A, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib K, Shohfi J, Duy P, DeSpenza T, Furey C, Reeves B, Smith H, Sousa A, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi S, Alper S, Sestan N, Shimelis H, Walsh L, Lifton R, Moreno-De-Luca A, Jin S, Kruszka P, Deniz E, Kahle K. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. Brain 2023, 147: 1553-1570. PMID: 38128548, PMCID: PMC10994532, DOI: 10.1093/brain/awad405.Peer-Reviewed Original ResearchAqueductal stenosisDe novo variantsCardiac defectsCerebral ventriculomegalyPatient cohortFetal brain transcriptomeStructural brain disordersTranscription factor NeuroD2Large patient cohortCorpus callosum abnormalitiesHuman fetal brainOptical coherence tomographyWhole-exome sequencingNeural stem cellsCH patientsHuman hydrocephalusControl cohortClinical managementCommon disorderCallosum abnormalitiesFetal brainBrain disordersBrain surgeryCH pathogenesisPatients
2022
Molecular Markers in Maternal Blood Exosomes Allow Early Detection of Fetal Alcohol Spectrum Disorders
Darbinian N, Darbinyan A, Sinard J, Tatevosian G, Merabova N, D’Amico F, Khader T, Bajwa A, Martirosyan D, Gawlinski A, Pursnani R, Zhao H, Amini S, Morrison M, Goetzl L, Selzer M. Molecular Markers in Maternal Blood Exosomes Allow Early Detection of Fetal Alcohol Spectrum Disorders. International Journal Of Molecular Sciences 2022, 24: 135. PMID: 36613580, PMCID: PMC9820501, DOI: 10.3390/ijms24010135.Peer-Reviewed Original ResearchConceptsCaspase-3 activityBrain-derived exosomesMarker of synaptogenesisBrain caspase-3 activityFetal alcohol spectrum disordersMaternal blood samplesPrenatal alcohol exposureHuman fetal brainAlcohol spectrum disordersAvailable imaging techniquesMyelin basic proteinEtOH intakeEtOH exposureEtOH useMaternal raceNeurobehavioral deficitsAlcohol exposureMaternal bloodMother's bloodEarly diagnosisFetal brainBlood samplesMBP levelsTherapeutic interventionsBrain size
2020
Complex mosaic structural variations in human fetal brains
Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck F, Urban AE, Vaccarino F, Abyzov A. Complex mosaic structural variations in human fetal brains. Genome Research 2020, 30: gr.262667.120. PMID: 33122304, PMCID: PMC7706730, DOI: 10.1101/gr.262667.120.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsStructural variantsMegabase-scale copy number variantsHuman fetal brainFunctional consequencesMobile element insertionsSimilar functional consequencesFetal brainMosaic single-nucleotide variantsAdult brain neuronsStructural variationsPotential functional consequencesKilobase scaleDNA eventsGenomic fragmentDifferent chromosomesElement insertionsClonal approachHuman brain cellsFetal human brainNucleotide variantsReplication errorsHuman brainNumber variants
2017
Weak functional connectivity in the human fetal brain prior to preterm birth
Thomason ME, Scheinost D, Manning JH, Grove LE, Hect J, Marshall N, Hernandez-Andrade E, Berman S, Pappas A, Yeo L, Hassan SS, Constable RT, Ment LR, Romero R. Weak functional connectivity in the human fetal brain prior to preterm birth. Scientific Reports 2017, 7: 39286. PMID: 28067865, PMCID: PMC5221666, DOI: 10.1038/srep39286.Peer-Reviewed Original ResearchConceptsFunctional connectivityResting-state functional MRIHuman fetal brainWeaker functional connectivityNeural functional connectivityPreterm birthPreterm brainRight-hemisphere homologsNeurological insultFetal brainNeurological problemsHuman fetusesFunctional MRIBrain functionNeurodevelopmental disordersNeural connectivityBirthPretermFetusesUteroLanguage regionsBrainFirst evidenceInsultMRI
1996
The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis.
Kier E, Truwit C. The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. American Journal Of Neuroradiology 1996, 17: 1631-41. PMID: 8896613, PMCID: PMC8338282.Peer-Reviewed Original ResearchConceptsCorpus callosumCallosal anomaliesHuman corpus callosumAdult mammal brainHuman fetal brainHuman fetal developmentFrontal lobe sizeMR imagesMamillary bodiesAnterior commissureFetal brainCallosumFetal developmentAbnormal appearanceGenuNormal corpusPatientsMR analysisAnterior bodyMammal brainBrainCommissure
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