A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

Hypoxia-Inducible Factors in Physiology and Medicine

(2012) Gregg L. Semenza   CELL

Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation

(2012) Peppi Koivunen et al.   NATURE

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

(2012) Zhengping Zhuang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hypoxia. 5. Hypoxia and hematopoiesis

(2011) Donghoon Yoon et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

(2011) C. Ladroue et al.   HAEMATOLOGICA

Regulation of Oxygen Homeostasis by Hypoxia-Inducible Factor 1

(2009) Gregg L. Semenza   PHYSIOLOGY

PHD2Mutation and Congenital Erythrocytosis with Paraganglioma

(2008) Charline Ladroue et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Gain-of-Function Mutation in theHIF2AGene in Familial Erythrocytosis

(2008) Melanie J. Percy et al.   NEW ENGLAND JOURNAL OF MEDICINE