Literature DB >> 35142155

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

Naseema Gangat1, Jennifer L Oliveira2, Tavanna R Porter2, James D Hoyer2, Aref Al-Kali3, Mrinal M Patnaik3, Animesh Pardanani3, Ayalew Tefferi4.   

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Year:  2022        PMID： 35142155      PMCID： PMC9052925          DOI： 10.3324/haematol.2021.280516

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   11.047


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  20 in total

1.  A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.

Authors:  Jakub Zmajkovic; Pontus Lundberg; Ronny Nienhold; Maria L Torgersen; Anders Sundan; Anders Waage; Radek C Skoda
Journal:  N Engl J Med       Date:  2018-03-08       Impact factor: 91.245

2.  High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases.

Authors:  Naseema Gangat; Jennifer L Oliveira; James D Hoyer; Mrinal M Patnaik; Animesh Pardanani; Ayalew Tefferi
Journal:  Am J Hematol       Date:  2021-10-19       Impact factor: 10.047

3.  Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.

Authors:  James D Hoyer; Steven L Allen; Ernest Beutler; Kathleen Kubik; Carol West; Virgil F Fairbanks
Journal:  Am J Hematol       Date:  2004-04       Impact factor: 10.047

4.  Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.

Authors:  V Lemarchandel; V Joulin; C Valentin; R Rosa; F Galactéros; J Rosa; M Cohen-Solal
Journal:  Blood       Date:  1992-11-15       Impact factor: 22.113

5.  Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.

Authors:  A de la Chapelle; A L Träskelin; E Juvonen
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-15       Impact factor: 11.205

6.  Erythrocytosis associated with a novel missense mutation in the BPGM gene.

Authors:  Nayia Petousi; Richard R Copley; Terence R J Lappin; Sally E Haggan; Celeste M Bento; Holger Cario; Melanie J Percy; Peter J Ratcliffe; Peter A Robbins; Mary Frances McMullin
Journal:  Haematologica       Date:  2014-07-11       Impact factor: 9.941

Review 7.  The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Authors:  Betty Gardie; Melanie J Percy; David Hoogewijs; Rasheduzzaman Chowdhury; Celeste Bento; Patrick R Arsenault; Stéphane Richard; Helena Almeida; Joanne Ewing; Frédéric Lambert; Mary Frances McMullin; Christopher J Schofield; Frank S Lee
Journal:  Hypoxia (Auckl)       Date:  2014-07-01

8.  HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.

Authors:  Daniel Tarade; Claire M Robinson; Jeffrey E Lee; Michael Ohh
Journal:  Nat Commun       Date:  2018-08-22       Impact factor: 14.919

9.  Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.

Authors:  Gudjon R Oskarsson; Asmundur Oddsson; Magnus K Magnusson; Ragnar P Kristjansson; Gisli H Halldorsson; Egil Ferkingstad; Florian Zink; Anna Helgadottir; Erna V Ivarsdottir; Gudny A Arnadottir; Brynjar O Jensson; Hildigunnur Katrinardottir; Gardar Sveinbjornsson; Anna M Kristinsdottir; Amy L Lee; Jona Saemundsdottir; Lilja Stefansdottir; Jon K Sigurdsson; Olafur B Davidsson; Stefania Benonisdottir; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Stefan Jonsson; Reynir L Gudmundsson; Folkert W Asselbergs; Vinicius Tragante; Bjarni Gunnarsson; Gisli Masson; Gudmar Thorleifsson; Thorunn Rafnar; Hilma Holm; Isleifur Olafsson; Pall T Onundarson; Daniel F Gudbjartsson; Gudmundur L Norddahl; Unnur Thorsteinsdottir; Patrick Sulem; Kari Stefansson
Journal:  Commun Biol       Date:  2020-04-23

10.  Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.

Authors:  Rachel Wilson; Nausheen Syed; Prabodh Shah
Journal:  Case Rep Hematol       Date:  2016-02-29
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