Featured Publications
Apoptotic Functions of PDCD10/CCM3, the Gene Mutated in Cerebral Cavernous Malformation 3
Chen L, Tanriover G, Yano H, Friedlander R, Louvi A, Gunel M. Apoptotic Functions of PDCD10/CCM3, the Gene Mutated in Cerebral Cavernous Malformation 3. Stroke 2009, 40: 1474-1481. PMID: 19246713, PMCID: PMC2709460, DOI: 10.1161/strokeaha.108.527135.Peer-Reviewed Original ResearchMeSH KeywordsApoptosisApoptosis Regulatory ProteinsCaspase 3Central Nervous System NeoplasmsCulture Media, Serum-FreeEndothelial CellsGene Expression Regulation, NeoplasticHeLa CellsHemangioma, Cavernous, Central Nervous SystemHumansIn Situ Nick-End LabelingMembrane ProteinsMutationP38 Mitogen-Activated Protein KinasesProto-Oncogene ProteinsRNA, Small InterferingTransfectionUmbilical VeinsIntegrated genomic characterization of IDH1-mutant glioma malignant progression
Bai H, Harmancı AS, Erson-Omay EZ, Li J, Coşkun S, Simon M, Krischek B, Özduman K, Omay SB, Sorensen EA, Turcan Ş, Bakırcığlu M, Carrión-Grant G, Murray PB, Clark VE, Ercan-Sencicek AG, Knight J, Sencar L, Altınok S, Kaulen LD, Gülez B, Timmer M, Schramm J, Mishra-Gorur K, Henegariu O, Moliterno J, Louvi A, Chan TA, Tannheimer SL, Pamir MN, Vortmeyer AO, Bilguvar K, Yasuno K, Günel M. Integrated genomic characterization of IDH1-mutant glioma malignant progression. Nature Genetics 2015, 48: 59-66. PMID: 26618343, PMCID: PMC4829945, DOI: 10.1038/ng.3457.Peer-Reviewed Original ResearchConceptsDevelopmental transcription factorsActivation of MYCMalignant progressionGenomic approachesPI3K pathwayGlioma malignant progressionEpigenetic silencingIDH1 mutant gliomasTranscription factorsIntegrated genomic characterizationGenomic characterizationRTK-RASOncogenic pathwaysK pathwayClonal expansionPathwaySilencingMYCProgression
2021
Exome sequencing identifies SLIT2 variants in primary CNS lymphoma
Kaulen LD, Erson‐Omay E, Henegariu O, Karschnia P, Huttner A, Günel M, Baehring JM. Exome sequencing identifies SLIT2 variants in primary CNS lymphoma. British Journal Of Haematology 2021, 193: 375-379. PMID: 33481259, DOI: 10.1111/bjh.17319.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaShorter progression-free survivalCentral nervous system lymphomaRole of SLIT2Primary CNS lymphomaProgression-free survivalLarger validation cohortNervous system lymphomaShorter overall survivalPossible prognostic implicationsWarrants further investigationCNS lymphomaTumor DNA samplesOverall survivalPCNSL patientsSystem lymphomaPrognostic implicationsValidation cohortPCNSL pathogenesisLymphoid malignanciesFunction variantsTumor suppressor geneExome sequencingLuciferase assayLymphoma
2014
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations
Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, Marcondes de Souza J, Lee C, Marchuk DA, Awad IA. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics In Medicine 2014, 17: 188-196. PMID: 25122144, PMCID: PMC4329119, DOI: 10.1038/gim.2014.97.Peer-Reviewed Original ResearchMeSH Keywords1-(5-Isoquinolinesulfonyl)-2-MethylpiperazineAdolescentAdultAnimalsApoptosis Regulatory ProteinsCarrier ProteinsCells, CulturedCentral Nervous System NeoplasmsChildChild, PreschoolDisease Models, AnimalHemangioma, Cavernous, Central Nervous SystemHuman Umbilical Vein Endothelial CellsHumansInfantIntracellular Signaling Peptides and ProteinsKeratin-1Membrane ProteinsMiceMiddle AgedMutationProspective StudiesProto-Oncogene ProteinsRho-Associated KinasesStress FibersYoung AdultConceptsCerebral cavernous malformation diseaseRho-kinase activityLesion burdenExceptional aggressivenessCerebral cavernous malformation lesionsSporadic cerebral cavernous malformationBrain vascular permeabilityPreclinical therapeutic testingDesign of trialsPotential therapeutic targetCerebral cavernous malformationsClinical manifestationsBrain permeabilityEndothelial stress fibersSkin lesionsVascular permeabilityCavernous malformationsTherapeutic targetTherapeutic testingFrequent hemorrhagesKinase activityClinical phenotypeClinical counselingHeterozygous miceEndothelial cells
2009
CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta.
Tanriover G, Seval Y, Sati L, Gunel M, Demir N. CCM2 and CCM3 proteins contribute to vasculogenesis and angiogenesis in human placenta. Cellular And Molecular Biology 2009, 24: 1287-94. PMID: 19688696, DOI: 10.14670/hh-24.1287.Peer-Reviewed Original ResearchMeSH KeywordsApoptosis Regulatory ProteinsCarrier ProteinsCase-Control StudiesCentral Nervous System NeoplasmsFemaleHemangioma, Cavernous, Central Nervous SystemHumansImmunohistochemistryMembrane ProteinsNeovascularization, PathologicPlacentaPregnancyPregnancy Trimester, FirstPregnancy Trimester, ThirdProto-Oncogene ProteinsConceptsCerebral cavernous malformationsVascular endotheliumBlood vessel formationHuman placentaMature intermediate villiVascular malformationsStem villiTerm placentaVessel formationIntermediate villiNormal brain parenchymaMeans of immunohistochemistryCentral nervous systemEndothelium-lined vascular channelsWestern blot analysisEarly pregnancyBrain parenchymaModerate immunostainingCavernous malformationsNervous systemVascular channelsPlacental developmentPlacentaEndotheliumLess expression