HIF pathway mutations and erythrocytosis (Q37810073)

23 August 2017

HIF pathway mutations and erythrocytosis (English)

1 reference

23 August 2017

Mary Frances McMullin

series ordinal

1

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23 August 2017

1 February 2010

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Expert Review of Hematology

23 August 2017

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23 August 2017

3

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23 August 2017

93-101

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23 August 2017

1

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An elevated venous haemoglobin concentration cannot be used as a surrogate marker for absolute erythrocytosis: a study of patients with polycythaemia vera and apparent polycythaemia.

23 August 2017

1 reference

Genetically heterogeneous origins of idiopathic erythrocytosis

21 January 2018

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Renal artery stenosis with hypertension and high haematocrit.

21 January 2018

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Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension

21 January 2018

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Perspectives on oxygen sensing

21 January 2018

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HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus

21 January 2018

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Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex

21 January 2018

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C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation

21 January 2018

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A conserved family of prolyl-4-hydroxylases that modify HIF

21 January 2018

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Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

21 January 2018

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HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

21 January 2018

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Mechanism of regulation of the hypoxia-inducible factor-1 alpha by the von Hippel-Lindau tumor suppressor protein

21 January 2018

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The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

21 January 2018

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Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

21 January 2018

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Oxygen sensing by HIF hydroxylases

21 January 2018

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

21 January 2018

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Von Hippel-Lindau disease.

21 January 2018

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Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

21 January 2018

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Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

21 January 2018

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Mutations in the VHL gene in sporadic apparently congenital polycythemia

21 January 2018

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Vascular complications in Chuvash polycythemia

21 January 2018

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Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

21 January 2018

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

21 January 2018

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Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

21 January 2018

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Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia

21 January 2018

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A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

21 January 2018

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A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

21 January 2018

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PHD2 mutation and congenital erythrocytosis with paraganglioma.

21 January 2018

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

21 January 2018

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Placental but not heart defects are associated with elevated hypoxia-inducible factor alpha levels in mice lacking prolyl hydroxylase domain protein 2

21 January 2018

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Regulation of adult erythropoiesis by prolyl hydroxylase domain proteins

21 January 2018

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

21 January 2018

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Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

21 January 2018

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Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

21 January 2018

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A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.

21 January 2018

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Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline

21 January 2018

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Acute postnatal ablation of Hif-2alpha results in anemia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1586/EHM.09.68

1 reference

23 August 2017

1 reference

PubMed ID

21082936