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Journal article

Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.

Abstract:

Germline mutations in the von Hippel-Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (RCC). Dysregulation of the hypoxia-inducible factor (HIF) transcription factors has been linked to VHL and SDHB-related RCC; both HIF dysregulation and disordered function of a prolyl hydroxylase domain isoform 3 (PHD3/EGLN3)-related pathway of neuronal apoptosis have been linked to the development of phaeochromocytoma....

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Publication status:
Published

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Publisher copy:
10.1677/erc-10-0113

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Journal:
Endocrine-related cancer
Volume:
18
Issue:
1
Pages:
73-83
Publication date:
2011-02-05
DOI:
EISSN:
1479-6821
ISSN:
1351-0088
URN:
uuid:6c73f375-17f1-4699-b881-6c43f7f4af16
Source identifiers:
107005
Local pid:
pubs:107005

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