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Article

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

Blood - 28 Mar 2013

Yang Chunzhang, Sun Michael G, Matro Joey, Huynh Thanh T, Rahimpour Shervin, Prchal Josef T, Lechan Ronald, Lonser Russell, Pacak Karel, Zhuang Zhengping

Abstract excerpt

Hypoxia-inducible factors (HIFs) control the cellular response to hypoxia and, when dysregulated, contribute to tumorigenesis. Previously, we identified 2 gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by prolyl hydroxylase domain-2...

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Identifiers

PMID: 23361906
DOI: 10.1182/blood-2012-10-460972
PMCID: PMC3612863

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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