Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia
about
PHD2: from hypoxia regulation to disease progressionThe role of PHD2 mutations in the pathogenesis of erythrocytosis.A genetic mechanism for Tibetan high-altitude adaptation.A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.Regulation of erythropoiesis by hypoxia-inducible factorsHuman adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.Endothelial cell metabolism and tumour angiogenesis: glucose and glutamine as essential fuels and lactate as the driving force.Prolyl 4-hydroxylases, master regulators of the hypoxia response.Inherited predisposition to myeloproliferative neoplasmsParaganglioma and phaeochromocytoma: from genetics to personalized medicine.Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.Hypoxia Signaling Cascade for Erythropoietin Production in Hepatocytes.Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.Genetic basis of congenital erythrocytosis: mutation update and online databases.Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans.A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report.
P2860
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P2860
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Distinct deregulation of the h ...... of patients with polycythemia
@ast
Distinct deregulation of the h ...... of patients with polycythemia
@en
type
label
Distinct deregulation of the h ...... of patients with polycythemia
@ast
Distinct deregulation of the h ...... of patients with polycythemia
@en
prefLabel
Distinct deregulation of the h ...... of patients with polycythemia
@ast
Distinct deregulation of the h ...... of patients with polycythemia
@en
P2093
P2860
P50
P1433
P1476
Distinct deregulation of the h ...... of patients with polycythemia
@en
P2093
André Baruchel
Betty Gardie
Charline Ladroue
David Hoogewijs
Fadi Fakhoury
Federica Storti
Jean Feunteun
Michel Barrois
Michel Leporrier
Nathalie Mazure
P2860
P356
10.3324/HAEMATOL.2011.044644
P50
P577
2011-09-20T00:00:00Z