ArticleBlood2011
Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.
Article in Blood, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Effect of hypoxia-inducible factor-prolyl hydroxylase inhibitors on anemia in patients with CKD: a meta-analysis of randomized controlled trials including 2804 patients.Renal failure · 2020Pooled it
- The pathological mechanisms and potential therapeutic strategies for renal anemia.Frontiers in pharmacology · 2026Review
- VHL, transferrin, and erythropoietin in the regulation of hepcidin.HemaSphere · 2025Article
- Increased transferrin protects from thrombosis in Chuvash erythrocytosis.American journal of hematology · 2023Article
- HIF2α, Hepcidin and their crosstalk as tumour-promoting signalling.British journal of cancer · 2023Review
- Polycythemia Vera: Thinking Beyond the Hematocrit.Journal of the advanced practitioner in oncology · 2023Review
- Beneficial effect of roxadustat on early posttransplant anemia and iron utilization in kidney transplant recipients: a retrospective comparative cohort study.Annals of translational medicine · 2022Article
- Hypoxia-Inducible Factor Stabilizers in End Stage Kidney Disease: "Can the Promise Be Kept?"International journal of molecular sciences · 2021Review
- A Novel Choice to Correct Inflammation-Induced Anemia in CKD: Oral Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitor Roxadustat.Frontiers in medicine · 2020Review
- Regulation of Gene Expression under Hypoxic Conditions.International journal of molecular sciences · 2019Review
- Hypoxia-Inducible Factor and Its Role in the Management of Anemia in Chronic Kidney Disease.International journal of molecular sciences · 2018Review
- Therapeutic targeting of the HIF oxygen-sensing pathway: Lessons learned from clinical studies.Experimental cell research · 2017Review
- HIF-prolyl hydroxylases as therapeutic targets in erythropoiesis and iron metabolism.Hemodialysis international. International Symposium on Home Hemodialysis · 2017Review
- The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism.American journal of physiology. Heart and circulatory physiology · 2016Article
- HIF2α Is an Essential Molecular Brake for Postprandial Hepatic Glucagon Response Independent of Insulin Signaling.Cell metabolism · 2016Article
- Anaemia in kidney disease: harnessing hypoxia responses for therapy.Nature reviews. Nephrology · 2015Review
- Molecular mechanisms of action and therapeutic uses of pharmacological inhibitors of HIF-prolyl 4-hydroxylases for treatment of ischemic diseases.Antioxidants & redox signaling · 2014Review
- Hypoxia-inducible factors link iron homeostasis and erythropoiesis.Gastroenterology · 2014Review
- Testosterone administration inhibits hepcidin transcription and is associated with increased iron incorporation into red blood cells.Aging cell · 2013Article
- Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant.PloS one · 2013Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Hypoxia is known to reduce the expression of hepcidin, the master regulator of iron metabolism. However, it is not clear whether this response is primarily related to increased erythropoiesis driven by hypoxically stimulated erythropoietin or to a more direct effect of hypoxia on hepcidin expression. The germline loss-of-function VHL(R200W) mutation is common in Chuvashia, Russia, and also occurs elsewhere. VHL(R200W) homozygotes have elevated hypoxia-inducible factor 1α (HIF-1α) and HIF-2α levels, increased red cell mass, propensity to thrombosis, and early mortality. Ninety VHL(R200W) homozygotes and 52 controls with normal VHL alleles from Chuvashia, Russia, were studied under basal circumstances. In univariate analyses, serum hepcidin concentration was correlated positively with serum ferritin concentration and negatively with homozygosity for VHL(R200W). After adjustment for serum erythropoietin and ferritin concentrations by multiple linear regression, the geometric mean (95% confidence interval of mean) hepcidin concentration was 8.1 (6.3-10.5) ng/mL in VHL(R200W) homozygotes versus 26.9 (18.6-38.0) ng/mL in controls (P < .001). In contrast, a significant independent relationship of serum erythropoietin, hemoglobin, or RBC count with hepcidin was not observed. In conclusion, up-regulation of the hypoxic response leads to decreased expression of hepcidin that may be independent of increased erythropoietin levels and increased RBC counts.
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Registered trials
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