Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: the Mayo Clinic experience

Not available.

• Publication year

  2022

• Venue

  Haematologica

• Publication date

  2022-02-10

• Fields of study

  Medicine

• Identifiers
  DOI 10.3324/haematol.2021.280516PMID 35142155PMCID 9052925
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views

  2021cited by this paper
• High‐oxygen‐affinity hemoglobinopathy‐associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases

  2021cited by this paper
• Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

  2020cited by this paper
• Low incidence of EPOR mutations in idiopathic erythrocytosis

  2020cited by this paper
• Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit

  2019influential reference
• A Gain‐of‐Function Mutation in EPO in Familial Erythrocytosis

  2018cited by this paper
• Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experience

  2018cited by this paper
• HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease

  2018cited by this paper
• Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics

  2016cited by this paper
• Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

  2016cited by this paper
• Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

  2014cited by this paper
• The role of PHD2 mutations in the pathogenesis of erythrocytosis

  2014cited by this paper
• A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

  2012cited by this paper
• Two new mutations in the HIF2A gene associated with erythrocytosis

  2012cited by this paper
• Erythrocytosis associated with a novel missense mutation in the BPGM gene

  2010cited by this paper
• Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

  2008cited by this paper
• Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose‐6‐phosphate dehydrogenase (G‐6‐PD) deficiency

  2004cited by this paper
• Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

  2004cited by this paper
• Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.

  1993cited by this paper
• Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.

  1992cited by this paper

• Variant analysis and biochemical investigation in two siblings with late onset idiopathic secondary erythrocytosis: A case report

  2025cites this paper
• VHL胚系突变所致家族性红细胞增多症2型1例报告并文献复习

  2025cites this paper
• Single-cell metabolomics reveals that bisphosphoglycerate mutase influences oocyte maturation through glucose metabolism.

  2025cites this paper
• JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management

  2025cites this paper
• Hypoxia-inducible factors contribute to venous thrombosis in a mouse model of myeloproliferative neoplasms

  2025cites this paper
• New human bisphosphoglycerate mutase structures provide insights into the structural basis of BPGM deficiency and citrate inhibition.

  2025cites this paper
• Idiopathic erythrocytosis: A diagnostic and management challenge with emerging areas for exploration

  2024cites this paper
• Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience

  2024cites this paper
• JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management

  2023cites this paper
• Biphosphoglycerate Mutase: A Novel Therapeutic Target for Malaria?

  2023cites this paper
• Myeloproliferative neoplasms – a global view

  2022cites this paper