2024
Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies
Gu S, Butt A, Schulz V, Rinder H, Lee A, Gallagher P, Hwa J, Bona R. Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies. Blood Cells Molecules And Diseases 2024, 110: 102893. PMID: 39260211, DOI: 10.1016/j.bcmd.2024.102893.Peer-Reviewed Original ResearchInherited platelet disordersClinically significant bleedingCases of patientsHeterogeneous group of conditionsGroup of conditionsSignificant bleedingDiagnostic yieldDiagnostic dilemmaPlatelet disordersBleeding disordersEvaluating patientsPatient cohortMolecular pathogenesisMass cytometryHeterogeneous groupPatientsMultimodal approachBleedingImprove patient careDiagnosisDisordersPatient careGenetic sequencesLaboratory testing approachPotential utilityAbstract 1147: Crosstalk Between Alk5 And Mtorc1 Signaling Promotes VSMC Differentiation And The Therapeutic Effect Of Rapamycin
Chakraborty R, Chatterjee P, Dave J, Obrien B, Joshi D, Schulz V, Greif D, Hwa J, Gallagher P, Martin K. Abstract 1147: Crosstalk Between Alk5 And Mtorc1 Signaling Promotes VSMC Differentiation And The Therapeutic Effect Of Rapamycin. Arteriosclerosis Thrombosis And Vascular Biology 2024, 44: a1147-a1147. DOI: 10.1161/atvb.44.suppl_1.1147.Peer-Reviewed Original ResearchVascular smooth muscle cellsTherapeutic effect of rapamycinEffects of rapamycinVSMC differentiationContractile genesConsistent with in vitro findingsRapamycin treatmentCarotid artery injuryHuman coronary artery SMCsVascular smooth muscle cell differentiationIntimal hyperplasiaSmooth muscle cellsCoronary artery SMCsMTORC1 inhibitor rapamycinPhosphorylation of Smad2/3Inhibition of ALK5Smad-binding elementSmad transcription factorsALK5 activityArterial injuryArtery SMCsKnockout miceInhibition of mTORC1Vascular smooth muscle cell plasticityMuscle cells
2023
Multimodality Platelet Evaluation By Mass Cytometry and Genetic Analysis in Patients with Bleeding Disorders
Gu S, Gallagher P, Butt A, Gu V, Lezon-Geyda K, Schulz V, Prozora S, Lee A, Neparidze N, Bar N, Martin K, Cornell J, Chirico G, Chakraborty R, Rinder H, Hwa J, Bona R. Multimodality Platelet Evaluation By Mass Cytometry and Genetic Analysis in Patients with Bleeding Disorders. Blood 2023, 142: 1197. DOI: 10.1182/blood-2023-177946.Peer-Reviewed Original ResearchBleeding tendencyBleeding disorderPlatelet markersPlatelet aggregometryMass cytometryPlatelet functionPlatelet disordersSingle-center prospective studyLow-risk groupAbnormal bleeding tendencyQualitative platelet disordersLarge patient cohortQuantitative platelet disordersCommon underlying causeGenetic variantsMultimodality evaluationTotal patientsRisk stratificationLaboratory suspicionPlatelet dysfunctionProspective studyPatient cohortUnivariate analysisPlatelet volumeRisk groupsIdentification of a Novel Gene Regulatory Element in Human Erythroid Progenitor Cells
Schulz V, Lezon-Geyda K, Shan P, Papoin J, Narla M, Steiner L, Blanc L, Palis J, Gallagher P. Identification of a Novel Gene Regulatory Element in Human Erythroid Progenitor Cells. Blood 2023, 142: 9. DOI: 10.1182/blood-2023-186046.Peer-Reviewed Original ResearchErythroid progenitor cellsActive enhancersEarly erythropoiesisChIP-seqRegulatory elementsGene expressionATAC-seqRUNX motifsGATA motifSingle nucleotide polymorphismsProgenitor cellsGATA1 bindingDisease genesEnhancer regionErythroid lineageTissue-specific transcription factorsNovel gene regulatory elementsNovel enhancer regionErythrocyte traitsGenome-wide association studiesDirect tissue-specific expressionNovel regulatory elementGene regulatory elementsHuman erythroid progenitor cellsTerminal erythroid differentiationErythroid Progenitor Cells in the Murine Bone Marrow: Parallels with Human Counterparts and Response to Acute Anemia
McGrath K, Kingsley P, Rust E, Schulz V, Koniski A, Schofield T, Vit L, Narla M, Blanc L, Steiner L, Gallagher P, Palis J. Erythroid Progenitor Cells in the Murine Bone Marrow: Parallels with Human Counterparts and Response to Acute Anemia. Blood 2023, 142: 2451. DOI: 10.1182/blood-2023-187741.Peer-Reviewed Original ResearchGene Ontology termsErythroid progenitor cellsErythroid progenitorsOntology termsTranscription factorsProgenitor cellsMurine erythroid progenitor cellsEPO-responsive genesMurine counterpartGlobal transcriptomic studiesLineage-specific progenitor cellsHuman erythroid progenitor cellsAnalysis of genesCholesterol homeostasisHuman counterpartLate-stage erythroid progenitorsMature red blood cellsUpregulated transcription factorsMurine erythroid progenitorsRNA-seq studiesCholesterol biosynthesis genesColony-forming progenitorsBiosynthesis genesErythroid progenitor populationsMurine bone marrowRps19 and Rpl5 Play Distinct Roles in hematopoietic Stem Cell maintenance and Erythroid Differentiation
Tang Y, Ling T, Khan M, Rao R, Schulz V, Papoin J, Narla A, Lipton J, Palis J, Steiner L, Gallagher P, Narla M, Crispino J, Blanc L. Rps19 and Rpl5 Play Distinct Roles in hematopoietic Stem Cell maintenance and Erythroid Differentiation. Blood 2023, 142: 144. DOI: 10.1182/blood-2023-189146.Peer-Reviewed Original ResearchFailure of erythropoiesisErythroid differentiationVav-iCreHematopoietic stem cell maintenanceFetal hematopoiesisHematopoietic stemProtein translation ratesStem cell maintenanceRibosomal protein haploinsufficiencyGlobal protein synthesisTerminal erythroid differentiationCell compartmentExpression of RUNX1Stem cell compartmentErythroid fateProgenitor cell compartmentFetal liverRibosome biogenesisPolysome profilingNormal expression levelsRibosomal proteinsProgenitor biologyCell maintenanceScRNAseq studiesTranscription factors2008 – SELF-RENEWAL OF LATE-STAGE ERYTHROID PROGENITORS
Palis J, Olsen J, McGrath K, An H, Murphy K, Getman M, Schulz V, Westhoff C, Gallagher P, Chou S, Steiner L. 2008 – SELF-RENEWAL OF LATE-STAGE ERYTHROID PROGENITORS. Experimental Hematology 2023, 124: s40. DOI: 10.1016/j.exphem.2023.06.045.Peer-Reviewed Original Research
2022
BMI1 Regulates Proliferation of Human Late-Stage Erythroid Progenitors
Olsen J, McGrath K, Murphy K, Schofield T, Getman M, Narla M, Blanc L, Schulz V, Gallagher P, Steiner L, Palis J. BMI1 Regulates Proliferation of Human Late-Stage Erythroid Progenitors. Blood 2022, 140: 8152. DOI: 10.1182/blood-2022-167830.Peer-Reviewed Original Research
2019
Terminal Erythroid Maturation Is Associated with Dynamic Changes in the Abundance of Histone Marks Associated with Active Transcription Elongation and RNA Polymerase II Pausing
Murphy Z, Couch T, Lillis J, Getman M, Lezon-Geyda K, Schulz V, Narla M, Gallagher P, Steiner L. Terminal Erythroid Maturation Is Associated with Dynamic Changes in the Abundance of Histone Marks Associated with Active Transcription Elongation and RNA Polymerase II Pausing. Blood 2019, 134: 154. DOI: 10.1182/blood-2019-129561.Peer-Reviewed Original ResearchRNA polymerase II pausingTerminal erythroid maturationPol IIC-terminal domainErythroid maturationGene expressionTranscription elongationPosttranslational modificationsSpecific histone posttranslational modificationsPol II C-terminal domainRNA polymerase II pause releaseKey regulatorHistone H4 lysine 16 acetylationHistone H4 lysine 20Histone post-translational modificationsH4 lysine 16 acetylationHistone H3 lysine 79H4 lysine 20Histone posttranslational modificationsRNA Pol IIH3 lysine 79Multiple histone marksPost-translational modificationsTranscription start siteChIP-seq data
2018
Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia
Lezon-Geyda K, Schulz V, Maksimova Y, Gallagher P. Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia. Blood 2018, 132: 503. DOI: 10.1182/blood-2018-99-117752.Peer-Reviewed Original ResearchMRNA transcriptsTermination codonK562 cellsMinigene assayIntron 30Precise genetic basisAcceptor sitesInsertion/deletion mutationsHereditary pyropoikilocytosisWhole-genome sequencingNMD inhibitorsAcceptor splice siteDiagnostic gene panelsGenome databaseMRNA splicingWild-type minigeneConsensus sitesAltered splicingExon 31Genetic basisTranscript productionErythroid cellsGene manipulationGenetic analysisWT background
2015
Sensing Force by Trigeminal Neurons of Acutely Mechanosensitive Birds
Schneider E, Mastrotto M, Laursen W, Schulz V, Goodman J, Funk O, Gallagher P, Gracheva E, Bagriantsev S. Sensing Force by Trigeminal Neurons of Acutely Mechanosensitive Birds. Biophysical Journal 2015, 108: 562a. DOI: 10.1016/j.bpj.2014.11.3080.Peer-Reviewed Original Research
2014
Severe Alpha-Spectrin Linked Recessive Hereditary Spherocytosis
Lezon-Geyda K, Maksimova Y, Schulz V, Forget B, Gallagher P. Severe Alpha-Spectrin Linked Recessive Hereditary Spherocytosis. Blood 2014, 124: 4011. DOI: 10.1182/blood.v124.21.4011.4011.Peer-Reviewed Original Research
2013
Enhancers and Super Enhancers Are Associated With Genes That Control Phenotypic Traits In Primary Human Erythroid Cells
Schulz V, Lezon-Geyda K, Maksimova Y, Gallagher P. Enhancers and Super Enhancers Are Associated With Genes That Control Phenotypic Traits In Primary Human Erythroid Cells. Blood 2013, 122: 1200. DOI: 10.1182/blood.v122.21.1200.1200.Peer-Reviewed Original ResearchTranscriptional start siteRegulation of programsSuper enhancersErythroid cellsGene expressionErythroid enhancerTF motifsTranscription factorsHistone H3 lysine 4 monomethylationSpecific enhancersH3K27ac modificationGWAS catalogGene locusHistone H3 lysine 27 acetylationCell type-specific enhancersPrimary human erythroid cellsH3 lysine 27 acetylationAlpha-globin gene clusterDisease-associated genetic variantsGenome-wide mapsNHGRI GWAS catalogSubset of enhancersHundreds of kilobasesLysine 27 acetylationSpecialized cell typesThe Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis
Schulz V, Maksimova Y, Lezon-Geyda K, Gallagher P. The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis. Blood 2013, 122: 3419. DOI: 10.1182/blood.v122.21.3419.3419.Peer-Reviewed Original ResearchTransfusion-dependent anemiaMarrow failure syndromesBone marrow failure syndromesFailure syndromeCongenital dyserythropoietic anemiaBi-allelic mutationsIron overloadHemolytic anemiaGene mutationsNext-generation sequencingDyserythropoietic anemiaComplications of anemiaBone marrow findingsMissense mutationsTargeted Next-Generation SequencingMonths of ageSame clinical phenotypeExpectant managementWorking diagnosisChronic transfusionLiver failureMarrow findingsAppropriate therapyCommon diagnosisImmunodeficiency syndromeWhole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia
Kim Y, Schulz VP, Satake N, Gruber TA, Teixeira AM, Halene S, Gallagher PG, Krause DS. Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia. Leukemia 2013, 28: 945-948. PMID: 24157583, PMCID: PMC3981934, DOI: 10.1038/leu.2013.314.Peer-Reviewed Original Research
2012
Identification of Biologicaly Relevant Enhancers in Human Erythroid Cells
Su M, Steiner L, Bogardus H, Schulz V, Hardison R, Gallagher P. Identification of Biologicaly Relevant Enhancers in Human Erythroid Cells. Blood 2012, 120: 368. DOI: 10.1182/blood.v120.21.368.368.Peer-Reviewed Original ResearchTranscriptional start siteHuman erythroid cellsCell type-specific enhancersErythroid transcription factorsErythroid-specific genesTranscription factorsErythroid cellsCandidate enhancersSpecific enhancersSignificant enrichmentGene expressionPrimary human erythroid cellsRegulation of programsDisease-associated genetic variantsGenome-wide mapsHundreds of kilobasesSpecialized cell typesTranscription factor sitesKb of genesGene expression analysisParallel gene expression analysisGenomic vicinityGenomic methodologiesEvolutionary analysisHigh conservationPooled Short Hairpin (shRNA) Library Screen Coupled with Next-Generation Sequencing Efficiently Uncover Transcriptional Network in Neural Lineage Development of Human Embryonic Stem Cells (IN8-1.009)
Szekely A, Zhang Y, Reed B, Schulz V, Wang Z, Euskirchen G, Snyder M, Ivanova N, Weissman S. Pooled Short Hairpin (shRNA) Library Screen Coupled with Next-Generation Sequencing Efficiently Uncover Transcriptional Network in Neural Lineage Development of Human Embryonic Stem Cells (IN8-1.009). Neurology 2012, 78: in8-1.009-in8-1.009. DOI: 10.1212/wnl.78.1_meetingabstracts.in8-1.009.Peer-Reviewed Original ResearchPooled Short Hairpin (shRNA) Library Screen Coupled with Next-Generation Sequencing Efficiently Uncover Transcriptional Network in Neural Lineage Development of Human Embryonic Stem Cells (P02.016)
Szekely A, Zhang Y, Reed B, Schulz V, Wang Z, Euskirchen G, Snyder M, Ivanova N, Weissman S. Pooled Short Hairpin (shRNA) Library Screen Coupled with Next-Generation Sequencing Efficiently Uncover Transcriptional Network in Neural Lineage Development of Human Embryonic Stem Cells (P02.016). Neurology 2012, 78: p02.016-p02.016. DOI: 10.1212/wnl.78.1_meetingabstracts.p02.016.Peer-Reviewed Original Research
2011
Unbiased Identification of Functional Barrier Insulators in Primary Human Erythroid Cells,
Steiner L, Schulz V, Maksimova Y, Seidel N, Bodine D, Gallagher P. Unbiased Identification of Functional Barrier Insulators in Primary Human Erythroid Cells,. Blood 2011, 118: 3385. DOI: 10.1182/blood.v118.21.3385.3385.Peer-Reviewed Original ResearchHuman erythroid cellsPrimary human erythroid cellsPosition-effect variegationInsulator functionErythroid cellsCpG methylationBarrier insulatorsGene promoterCell type-specific gene expressionRepressive histone mark H3K27me3Unbiased identificationParallel sequencingUpstream stimulatory factor proteinsCTCF ChIP-seqMethyl-Binding DomainGenome-wide bindingGenome-wide mapsRole of CTCFCell type-specific mannerGenome-wide scaleHistone mark H3K27me3Chicken erythroid cellsDirection of transcriptionMultiple regulatory proteinsChIP-seq studiesTransfusion-Dependent Alpha-Spectrin Deficient Hemolytic Anemia Due to Maternal Uniparental Disomy
Bogardus H, Schulz V, Maksimova Y, Miller B, Forget B, Gallagher P. Transfusion-Dependent Alpha-Spectrin Deficient Hemolytic Anemia Due to Maternal Uniparental Disomy. Blood 2011, 118: 1030. DOI: 10.1182/blood.v118.21.1030.1030.Peer-Reviewed Original ResearchAlpha-spectrin geneArray comparative genomic hybridizationGene locusGenomic DNANonsense mutationUniparental disomyDeleterious recessive mutationsEntire human genomeMaternal uniparental disomyCultured erythroid cellsParental genomic DNARegions of homozygosityHuman genomeSingle chromosomeComparative genomic hybridizationMolecular basisSNP dataSPTA1 geneHomozygous nonsense mutationChromosome 1Erythroid cellsGene regionPromoter regionRecessive mutationsAnemia phenotype