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Article

Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas.

The Journal of clinical endocrinology and metabolism - 1 Mar 2010

Yao Li, Barontini Marta, Niederle Bruno, Jech Marion, Pfragner Roswitha, Dahia Patricia L M

Abstract excerpt

CONTEXT: Pheochromocytomas and paragangliomas are genetically heterogeneous tumors of neural crest origin. Approximately half of these tumors activate a pseudohypoxic transcription response, which is due in a minority of the cases to germline mutations of the VHL gene or the genes encoding subunits of the metabolic enzyme succinate dehydrogenase (SDH), SDHB, SDHC, or SDHD. However, the genetic basis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20130071
DOI: 10.1210/jc.2009-2245
PMCID: PMC2841540

Genes

IDH1
IDH2
SDHAF2
VHL
SDHB
SDHC
SDHD

Provenance

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Related research

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Research trail→

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Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas.PMID 20130071Read ↗

Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.Semantic proximity Read ↗

The connection between tricarboxylic acid cycle enzyme mutations and pseudohypoxic signaling in pheochromocytoma and paraganglioma.Semantic proximity Read ↗

15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma–paraganglioma syndromes characterized by germline SDHB and SDHD mutationsSemantic proximity Read ↗

Genotype and tumor locus determine expression profile of pseudohypoxic pheochromocytomas and paragangliomas.Semantic proximity Read ↗

Identification of a Signaling Axis HIF-1α/MicroRNA-210/ISCU Independent of SDH Mutation That Defines a Subgroup of Head and Neck ParagangliomasSemantic proximity Read ↗

Epigenetic and metabolic reprogramming of SDH-deficient paragangliomasSemantic proximity Read ↗

Germline FH Mutations Presenting With PheochromocytomaSemantic proximity Read ↗

Clinical Predictors of Pseudohypoxia-Type Pheochromocytomas.Semantic proximity Read ↗

SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas.Semantic proximity Read ↗

SDHA is a tumor suppressor gene causing paraganglioma.Semantic proximity Read ↗

Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.Semantic proximity Read ↗

Pseudohypoxia in paraganglioma and pheochromocytoma is associated with an immunosuppressive phenotype.Semantic proximity Read ↗

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