0000000000384290

AUTHOR

Zhengping Zhuang

showing 2 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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Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

1998

Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of b…

AdultMaleGenetic LinkageUrologyMolecular Sequence DataHereditary Papillary Renal Cell CarcinomaChromosomal translocationBiologyurologic and male genital diseasesY chromosomemedicine.disease_causeProto-Oncogene MasGermlineGermline mutationGeneticsmedicineMissense mutationHumansAmino Acid SequenceCarcinoma Renal CellGerm-Line MutationAgedKidneyMutationBinding SitesSequence Homology Amino Acidbusiness.industryReceptor Protein-Tyrosine KinasesMiddle AgedProtein-Tyrosine KinasesProto-Oncogene Proteins c-metmedicine.diseasePenetranceCarcinoma PapillaryKidney NeoplasmsPedigreemedicine.anatomical_structureProto-Oncogene Proteins c-metMutationCancer researchHereditary leiomyomatosis and renal cell carcinomaFemaleTrisomybusinessKidney cancerChromosomes Human Pair 7Nature genetics
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