| 1 | ECYT2, JAK2, VHL
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| Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
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| Russell RC, Sufan RI, Zhou B, Heir P, Bunda S, Sybingco SS, Greer SN, Roche O, Heathcote SA, Chow VW, Boba LM, Richmond TD, Hickey MM, Barber DL, Cheresh DA, Simon MC, Irwin MS, Kim WY, Ohh M.
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| Nat Med 17(7):845-53. doi: 10.1038/nm.2370.
2011
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| 2 | ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
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| Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
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| Percy MJ, Rumi E.
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| Am J Hematol 84(1):46-54. Review. 2009
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| 3 | ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
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| A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
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| Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V.
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| Haematologica 93(7):1072-5. Epub 2008 May 19. 2008
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| 4 | ECYT2, VHL
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| Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.
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| Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, Uhle R, Debatin KM, Kohne E.
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| Haematologica 90(1):19-24. 2005
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| 5 | ECYT2, VHL
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| Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
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| Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, Lappin TR.
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| Blood 102(3):1097-9. Epub 2003 Apr 17. 2003
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| 6 | ECYT2, VHL
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| Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
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| Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT.
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| Nat Genet 32(4):614-21. 2002
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| 7 | ECYT2, VHL
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| Congenital polycythemia in Chuvashia.
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| Sergeyeva A, Gordeuk VR, Tokarev YN, Sokol L, Prchal JF, Prchal JT.
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| Blood 89(6):2148-54. 1997
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