2020
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability
Caglayan AO, Aktar F, Bilguvar K, Baranoski JF, Akgumus GT, Harmanci AS, Erson-Omay EZ, Yasuno K, Caksen H, Gunel M. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. Journal Of Human Genetics 2020, 66: 215-218. PMID: 32764695, PMCID: PMC7785574, DOI: 10.1038/s10038-020-0820-0.Peer-Reviewed Original ResearchConceptsEssential proteinsAutosomal recessive intellectual disabilityRecessive intellectual disabilityMethionine aminopeptidase 1Genomic analysisHomozygous nonsense mutationFunction mutationsNovel homozygous nonsense mutationNonsense mutationAminopeptidase 1Novel candidatesNeuronal functionMutationsMolecular pathogenesisProteinIntellectual disabilityGenome testingEukaryotesNovel etiologyMetAP1GenesNeurologic impairmentCommon diseasePathwayCells
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