0000000000384302

AUTHOR

Ivana Jochmanova

0000-0003-2346-461x

showing 1 related works from this author

Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster

2016

Contains fulltext : 172720.pdf (Publisher’s version ) (Open Access) Recently, activating mutations of the hypoxia-inducible factor 2alpha gene (HIF2A/EPAS1) have been recognized to predispose to multiple paragangliomas (PGLs) and duodenal somatostatinomas associated with polycythemia, and ocular abnormalities. Previously, mutations in the SDHA/B/C/D, SDHAF2, VHL, FH, PHD1, and PHD2 genes have been associated with HIF activation and the development of pseudohypoxic (cluster-1) PGLs. These tumors overlap in terms of tumor location, syndromic presentation, and noradrenergic phenotype to a certain extent. However, they also differ especially by clinical outcome and by presence of other tumors o…

AdultMale0301 basic medicineOriginal articleCancer ResearchAdolescentMicroarraySDHBSDHABiologylcsh:RC254-282Oxidative PhosphorylationParagangliomaYoung Adult03 medical and health sciences0302 clinical medicineParagangliomaBasic Helix-Loop-Helix Transcription FactorsmedicineJournal ArticleCluster AnalysisHumansChildHypoxiaAgedGeneticsGene Expression ProfilingVascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16]Middle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasePhenotypeGene Expression Regulation NeoplasticGene expression profiling030104 developmental biologyHypoxia-inducible factors030220 oncology & carcinogenesisMutationFemaleSDHDTranscriptomeProtein BindingNeoplasia
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