2024
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-encicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2319578121. PMID: 38466853, PMCID: PMC10963000, DOI: 10.1073/pnas.2319578121.Commentaries, Editorials and Letters
2023
Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas
Kaulen L, Denisova E, Hinz F, Hai L, Friedel D, Henegariu O, Hoffmann D, Ito J, Kourtesakis A, Lehnert P, Doubrovinskaia S, Karschnia P, von Baumgarten L, Kessler T, Baehring J, Brors B, Sahm F, Wick W. Integrated genetic analyses of immunodeficiency-associated Epstein-Barr virus- (EBV) positive primary CNS lymphomas. Acta Neuropathologica 2023, 146: 499-514. PMID: 37495858, PMCID: PMC10412493, DOI: 10.1007/s00401-023-02613-w.Peer-Reviewed Original ResearchConceptsPrimary CNS lymphomaCNS lymphomaCytotoxic T cell responsesDistinct clinicopathological entityT cell responsesRegulatory cellsClinicopathological entityEpstein-BarrInferior prognosisMonocyte fractionM2 macrophagesJAK/STATMast cellsTumor microenvironmentAberrant somatic hypermutationMolecular classificationComprehensive genetic analysisBulk RNAseq dataStrong expressionChromosomal aberrationsGenetic alterationsPathological informationNumber gainCD70LymphomaDickkopf1 Promotes Pulmonary Fibrosis upon Bleomycin-Induced Lung Injury
Sung E, Park M, Henegariu O, Sime P, Chae W. Dickkopf1 Promotes Pulmonary Fibrosis upon Bleomycin-Induced Lung Injury. American Journal Of Pathology 2023, 193: 1130-1142. PMID: 37263344, PMCID: PMC10477954, DOI: 10.1016/j.ajpath.2023.05.009.Peer-Reviewed Original ResearchConceptsLung injuryImmune cell infiltrationLung inflammationCell infiltrationCollagen depositionBleomycin-Induced Lung InjuryOrchestration of inflammationRole of DKK1Patient's lung tissueSmooth muscle actinGrowth factor-β1Myofibroblast marker αDKK1 protein expressionTissue repair processAntibody administrationPulmonary inflammationPulmonary fibrosisProfibrotic cytokinesDKK1 levelsAttractive molecular targetFibrosis modelLung tissueTissue injuryTissue fibrosisFactor-β1Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart
2001
Multi-Organ, Multi-Lineage Engraftment by a Single Bone Marrow-Derived Stem Cell
Krause D, Theise N, Collector M, Henegariu O, Hwang S, Gardner R, Neutzel S, Sharkis S. Multi-Organ, Multi-Lineage Engraftment by a Single Bone Marrow-Derived Stem Cell. Cell 2001, 105: 369-377. PMID: 11348593, DOI: 10.1016/s0092-8674(01)00328-2.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntigens, CD34Antigens, LyBone Marrow CellsCell LineageCell MovementEpithelial CellsFemaleFluorescent DyesHematopoietic Stem Cell TransplantationHematopoietic Stem CellsHumansImmunohistochemistryIn Situ Hybridization, FluorescenceIntestine, SmallKeratinsLungMaleMembrane ProteinsMiceMice, KnockoutOrganic ChemicalsPulmonary SurfactantsStem CellsY ChromosomeConceptsLong-term repopulationSingle bone marrowMulti-lineage engraftmentAdult bone marrow cellsProperties of HSCHematopoietic stemSecondary hostsGenetic diseasesStem cellsBone marrow cellsExpression increasesDifferentiative capacityBone marrowEpithelial cellsSerial transplantationRare cellsTissue repairMarrow cellsCellsDifferentiationHostSecondary recipientsGI tractPhenotypeMarrowSmall Marker Chromosome Identification in Metaphase and Interphase Using Centromeric Multiplex FISH (CM-FISH)
Henegariu O, Bray-Ward P, Artan S, Vance G, Qumsyieh M, Ward D. Small Marker Chromosome Identification in Metaphase and Interphase Using Centromeric Multiplex FISH (CM-FISH). Laboratory Investigation 2001, 81: 475-481. PMID: 11304566, DOI: 10.1038/labinvest.3780255.Peer-Reviewed Original ResearchConceptsHuman chromosome painting probesMolecular cytogenetic proceduresDNA probesSubtelomeric chromosomal regionsIdentification of aneuploidyChromosome painting probesM-FISH analysisAlpha-satellite regionMarker chromosome identificationMarker chromosomesChromosome identificationHuman chromosomesRepetitive sequencesChromosomal rearrangementsInterphase nucleiMultiplex FISHChromosomal regionsPainting probesMetaphase assayMultiplex fluorescenceM-FISHCytogenetic proceduresSpectral karyotypingChromosomesPlasmid probesCryptic Translocation Identification in Human and Mouse Using Several Telomeric Multiplex FISH (TM-FISH) Strategies
Henegariu O, Artan S, Greally J, Chen X, Korenberg J, Vance G, Stubbs L, Bray-Ward P, Ward D. Cryptic Translocation Identification in Human and Mouse Using Several Telomeric Multiplex FISH (TM-FISH) Strategies. Laboratory Investigation 2001, 81: 483-491. PMID: 11304567, DOI: 10.1038/labinvest.3780256.Peer-Reviewed Original ResearchConceptsSubtelomeric regionsHuman subtelomeric regionsMouse chromosomesHuman chromosomesP1 clonesMouse probeMultiplex fluorescenceM-FISHChromosomesFISH strategySet of probesStandard fluorescence microscopeSmall rearrangementsSitu hybridizationLabeling strategyCryptic translocationSubtelomeric probesIdiopathic mental retardationFluorescence microscopeKnown markerCentromeresKilobasesImprovements in cytogenetic slide preparation: Controlled chromosome spreading, chemical aging and gradual denaturing
Henegariu O, Heerema N, Wright L, Bray‐Ward P, Ward D, Vance G. Improvements in cytogenetic slide preparation: Controlled chromosome spreading, chemical aging and gradual denaturing. Cytometry 2001, 43: 101-109. PMID: 11169574, DOI: 10.1002/1097-0320(20010201)43:2<101::aid-cyto1024>3.0.co;2-8.Peer-Reviewed Original ResearchConceptsComparative genomic hybridizationClassical banding techniquesSitu hybridization applicationsChromosomal integrityChromosome spreadsMultiplex FISHMolecular cytogeneticsFISH applicationsChromosome spreadingFISH techniqueGenomic hybridizationEnvironmental conditionsSitu hybridizationBanding techniquesChromosomesHybridizationReproducible protocolFISH resultsCytogenetic slidesCell suspensionsSlide preparationFishMetaphase
2000
Liver from bone marrow in humans
Theise N, Nimmakayalu M, Gardner R, Illei P, Morgan G, Teperman L, Henegariu O, Krause D. Liver from bone marrow in humans. Hepatology 2000, 32: 11-16. PMID: 10869283, DOI: 10.1053/jhep.2000.9124.Peer-Reviewed Original ResearchCustom fluorescent-nucleotide synthesis as an alternative method for nucleic acid labeling
Henegariu O, Bray-Ward P, Ward D. Custom fluorescent-nucleotide synthesis as an alternative method for nucleic acid labeling. Nature Biotechnology 2000, 18: 345-348. PMID: 10700155, DOI: 10.1038/73815.Peer-Reviewed Original ResearchConceptsSuccinimidyl ester derivativeNucleic acid hybridization assaysNucleic acid labelingLabeling reactionCustom preparationsUseful dyesFluorescent dyeDyeAcid labelingFluorescent nucleotidesCommercial sourcesInexpensive procedureSynthesisDerivativesReactionLaboratory applicationsHybridization assaysPreparationBiotinFluorescent
1999
Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice
Shao C, Deng L, Henegariu O, Liang L, Raikwar N, Sahota A, Stambrook P, Tischfield J. Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 1999, 96: 9230-9235. PMID: 10430925, PMCID: PMC17762, DOI: 10.1073/pnas.96.16.9230.Peer-Reviewed Original ResearchMeSH KeywordsAdenine PhosphoribosyltransferaseAnimalsChromosome MappingCrosses, GeneticEar, ExternalExonsFemaleFibroblastsGenes, RecessiveGenetic VariationHeterozygoteHumansLoss of HeterozygosityMaleMiceMice, Inbred C3HMice, Inbred StrainsMice, Mutant StrainsMutagenesisPoint MutationRecombination, GeneticSkinT-LymphocytesConceptsMitotic recombinationPolymorphic molecular markersSomatic cell variantsProgeny of crossesFrequency of crossoversHigh spontaneous frequencyAPRT enzyme activitySomatic mutagenesisMap distanceCytological markersSelection mediumHuman peripheral T cellsMolecular markersChromosome 8Vivo lossCell coloniesAPRTEnzyme activityNormal fibroblastsRecombinationHeterozygous micePeripheral T cellsAdenine analogueHeterozygote miceVivop21(cip-1/waf-1) deficiency causes deformed nuclear architecture, centriole overduplication, polyploidy, and relaxed microtubule damage checkpoints in human hematopoietic cells.
Mantel C, Braun S, Reid S, Henegariu O, Liu L, Hangoc G, Broxmeyer H. p21(cip-1/waf-1) deficiency causes deformed nuclear architecture, centriole overduplication, polyploidy, and relaxed microtubule damage checkpoints in human hematopoietic cells. Blood 1999, 93: 1390-8. PMID: 9949183, DOI: 10.1182/blood.v93.4.1390.404k25_1390_1398.Peer-Reviewed Original Research
1998
Characterization of Multiple 12p Rearrangements in Testicular Germ Cell Tumor Cell Line 833K and Its Subclone 64CP by Chromosome Microdissection
Blough R, Vance G, Henegariu O, Smolarek T, Sledge G, Heerema N. Characterization of Multiple 12p Rearrangements in Testicular Germ Cell Tumor Cell Line 833K and Its Subclone 64CP by Chromosome Microdissection. Cancer Genetics 1998, 106: 24-29. PMID: 9772905, DOI: 10.1016/s0165-4608(98)00042-9.Peer-Reviewed Original ResearchConceptsChromosome 12 regionDistal 12pNormal human chromosomesBeta-satellite DNABand-specific probesFISH experimentsChromosome arm 12pChromosome microdissectionChromosomal microdissectionHuman chromosomesPainting probesChromosome 12Stalk regionCisplatin-resistant subclonesSitu hybridizationRDNACommon breakpointFishMicrodissectionSpecific originChromatinRearrangementChromosomesUnusual distributionBreakpointsTriple-color FISH analysis of 12p amplification in testicular germ-cell tumors using 12p band-specific painting probes
Henegariu O, Vance G, Heiber D, Pera M, Heerema N. Triple-color FISH analysis of 12p amplification in testicular germ-cell tumors using 12p band-specific painting probes. Journal Of Molecular Medicine 1998, 76: 648-655. PMID: 9725767, DOI: 10.1007/s001090050262.Peer-Reviewed Original ResearchMolecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q
Vance G, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon‐Delvallez N, Butler M, Palmer C. Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. American Journal Of Medical Genetics 1998, 76: 51-57. PMID: 9508065, PMCID: PMC6775641, DOI: 10.1002/(sici)1096-8628(19980226)76:1<51::aid-ajmg9>3.0.co;2-s.Peer-Reviewed Original ResearchMeSH KeywordsCell LineChromosome AberrationsChromosome DeletionChromosomes, Human, Pair 13Chromosomes, Human, Pair 22Chromosomes, Human, Pair 7CytogeneticsFemaleGenetic MarkersHedgehog ProteinsHoloprosencephalyHumansIn Situ Hybridization, FluorescenceInfantInfant, NewbornKaryotypingMaleMosaicismPolymerase Chain ReactionProteinsTrans-ActivatorsTranslocation, GeneticConceptsSonic hedgehog geneHedgehog geneCell linesDifferent chromosome regionsStructural rearrangementsHuman Sonic Hedgehog genePatient cell linesMolecular cytogenetic analysisChromosome regionsChromosome 7Embryonic forebrainLong armGenesSitu hybridizationPolymerase chain reaction amplificationHPE3Chain reaction amplificationCytogenetic analysisMidline cleavageReaction amplificationRearrangementPhenotypeCritical regionLinesHybridization
1997
A case with mosaic di‐, tetra‐, and octacentric ring Y chromosomes
Henegariu O, Pescovitz O, Vance G, Verbrugge J, Heerema N. A case with mosaic di‐, tetra‐, and octacentric ring Y chromosomes. American Journal Of Medical Genetics 1997, 71: 426-429. PMID: 9286449, DOI: 10.1002/(sici)1096-8628(19970905)71:4<426::aid-ajmg10>3.0.co;2-i.Peer-Reviewed Original ResearchConceptsPresence of heterochromatinHigh-resolution G-bandingSpecific banding patternsHuman telomeresSRY locusRing Y chromosomeY chromosomePaint probesY centromereColor FISHBanding patternsPCR analysisUllrich-Turner syndromeTriple-color FISHQ-bandingRing chromosomesG-bandingChromosomesPhallic structuresUrogenital openingFishCentromeresHeterochromatinTelomeresLociPCR and FISH analysis of a ring Y chromosome
Henegariu O, Kernek S, Keating M, Palmer C, Heerema N. PCR and FISH analysis of a ring Y chromosome. American Journal Of Medical Genetics 1997, 69: 171-176. PMID: 9056556, DOI: 10.1002/(sici)1096-8628(19970317)69:2<171::aid-ajmg11>3.0.co;2-i.Peer-Reviewed Original ResearchMild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3)
Henegariu O, Heerema N, Vance G. Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3). American Journal Of Medical Genetics 1997, 68: 450-454. PMID: 9021020, DOI: 10.1002/(sici)1096-8628(19970211)68:4<450::aid-ajmg15>3.0.co;2-r.Peer-Reviewed Original Research
1996
Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11
Vog P, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn F, Schill W, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre H, Castel A, Nieschlag E, Weidner W, Gröne H, Jung A, Engel W, Haidl G. Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11. Human Molecular Genetics 1996, 5: 933-943. PMID: 8817327, DOI: 10.1093/hmg/5.7.933.Peer-Reviewed Original ResearchMolecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11)
Kirsch S, Keil R, Edelmann A, Henegariu O, Hirschmann P, LePaslier D, Vogt P. Molecular analysis of the genomic structure of the human Y chromosome in the euchromatic part of its long arm (Yq11). Cytogenetic And Genome Research 1996, 75: 197-206. PMID: 9040791, DOI: 10.1159/000134481.Peer-Reviewed Original Research