Erythrocytosis: the HIF pathway in control

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer

(2013) L. Lanikova et al.   BLOOD

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

(2013) C. Yang et al.   BLOOD

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas

(2013) Rodrigo A Toledo et al.   ENDOCRINE-RELATED CANCER

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W)

(2013) N. L. Tomasic et al.   HAEMATOLOGICA

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

(2013) Iñaki Comino-Méndez et al.   HUMAN MOLECULAR GENETICS

First Report of Bilateral Pheochromocytoma in the Clinical Spectrum ofHIF2A-Related Polycythemia-Paraganglioma Syndrome

(2013) David Taïeb et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Macrophages support pathological erythropoiesis in polycythemia vera and β-thalassemia

(2013) Pedro Ramos et al.   NATURE MEDICINE

Two new mutations in the HIF2A gene associated with erythrocytosis

(2012) Melanie J. Percy et al.   AMERICAN JOURNAL OF HEMATOLOGY

HIF-1  is a protective factor in conditional PHD2-deficient mice suffering from severe HIF-2 -induced excessive erythropoiesis

(2012) K. Franke et al.   BLOOD

Endothelial Cell HIF-1α and HIF-2α Differentially Regulate Metastatic Success

(2012) Cristina Branco-Price et al.   CANCER CELL

The HIF Signaling Pathway in Osteoblasts Directly Modulates Erythropoiesis through the Production of EPO

(2012) Erinn B. Rankin et al.   CELL

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

(2012) Felipe R. Lorenzo et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

SomaticHIF2AGain-of-Function Mutations in Paraganglioma with Polycythemia

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

Transcriptome and Network Changes in Climbers at Extreme Altitudes

(2012) Fang Chen et al.   PLoS One

The HIF Pathway and Erythrocytosis

(2011) Frank S. Lee et al.   Annual Review of Pathology-Mechanisms of Disease

High-resolution genome-wide mapping of HIF-binding sites by ChIP-seq

(2011) J. Schodel et al.   BLOOD

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

(2011) J. Bond et al.   BLOOD

From stem cell to red cell: regulation of erythropoiesis at multiple levels by multiple proteins, RNAs, and chromatin modifications

(2011) S. M. Hattangadi et al.   BLOOD

Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation

(2011) Elena Albiero et al.   BRITISH JOURNAL OF HAEMATOLOGY

Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHLR200W mutation (Chuvash polycythemia)

(2011) C. A. Sable et al.   HAEMATOLOGICA

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

(2011) C. Ladroue et al.   HAEMATOLOGICA

Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

(2011) E. Albiero et al.   HAEMATOLOGICA

Hypoxia: Adapting to High Altitude by Mutating EPAS-1, the Gene Encoding HIF-2α

(2011) Martha C. Tissot van Patot et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia

(2011) Ryan C Russell et al.   NATURE MEDICINE

Hepatic HIF-2 regulates erythropoietic responses to hypoxia in renal anemia

(2010) P. P. Kapitsinou et al.   BLOOD

Genetic repression of mouse VEGF expression regulates coagulation cascade

(2010) Xiao Liu et al.   IUBMB LIFE

Natural selection on EPAS1 (HIF2 ) associated with low hemoglobin concentration in Tibetan highlanders

(2010) C. M. Beall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reactivation of Hepatic EPO Synthesis in Mice After PHD Loss

(2010) Y. A. Minamishima et al.   SCIENCE

Genetic Evidence for High-Altitude Adaptation in Tibet

(2010) T. S. Simonson et al.   SCIENCE

Heterozygous Deficiency of PHD2 Restores Tumor Oxygenation and Inhibits Metastasis via Endothelial Normalization

(2009) Massimiliano Mazzone et al.   CELL

Hypoxia-inducible factor-2α-expressing interstitial fibroblasts are the only renal cells that express erythropoietin under hypoxia-inducible factor stabilization

(2009) Alexander Paliege et al.   KIDNEY INTERNATIONAL

A Feedback Loop Involving the Phd3 Prolyl Hydroxylase Tunes the Mammalian Hypoxic Response In Vivo

(2009) Y. A. Minamishima et al.   MOLECULAR AND CELLULAR BIOLOGY

Integrative analysis of HIF binding and transactivation reveals its role in maintaining histone methylation homeostasis

(2009) X. Xia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biochemical Characterization of Human Prolyl Hydroxylase Domain Protein 2 Variants Associated with Erythrocytosis

(2008) Melissa B. Pappalardi et al.   BIOCHEMISTRY

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

(2008) M. J. Percy et al.   BLOOD

Repression via the GATA box is essential for tissue-specific erythropoietin gene expression

(2008) N. Obara et al.   BLOOD

Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation

(2008) A. I. Sergueeva et al.   HAEMATOLOGICA

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

Regulation of adult erythropoiesis by prolyl hydroxylase domain proteins

(2007) K. Takeda et al.   BLOOD

Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure

(2007) Y. A. Minamishima et al.   BLOOD

Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

(2007) Maha Al-Sheikh et al.   BLOOD CELLS MOLECULES AND DISEASES