2015
Integrated 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
2007
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCarrier ProteinsChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Craniofacial AbnormalitiesDNAFemaleGene DosageHemangioma, Cavernous, Central Nervous SystemHeterozygoteHumansKruppel-Like Transcription FactorsNerve Tissue ProteinsOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain ReactionSyndromeZinc Finger Protein Gli3ConceptsGreig cephalopolysyndactyly syndromeCerebral cavernous malformationsDeleterious genetic variantsComparative genome hybridization analysisChromosome 7pArray-based CGHGene GLI3Distinct genesMultiple genesGenetic analysisGenomic DNANovel syndromeGenomic lesionsChromosome 7Contiguous gene syndromeQuantitative real-time polymerase chain reactionQuantitative RT-PCRGli3Hybridization analysis