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Journal Abstract Search

154 related items for PubMed ID: 21606165

  • 1. The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
    Miasnikova GY, Sergueeva AI, Nouraie M, Niu X, Okhotin DJ, Polyakova LA, Ganz T, Prchal JT, Gordeuk VR.
    Haematologica; 2011 Sep; 96(9):1371-4. PubMed ID: 21606165
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  • 3. Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.
    Gordeuk VR, Miasnikova GY, Sergueeva AI, Niu X, Nouraie M, Okhotin DJ, Polyakova LA, Ammosova T, Nekhai S, Ganz T, Prchal JT.
    Blood; 2011 Nov 10; 118(19):5278-82. PubMed ID: 21876117
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  • 4. The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
    Tomasic NL, Piterkova L, Huff C, Bilic E, Yoon D, Miasnikova GY, Sergueeva AI, Niu X, Nekhai S, Gordeuk V, Prchal JT.
    Haematologica; 2013 Apr 10; 98(4):560-7. PubMed ID: 23403324
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  • 5. Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.
    McClain DA, Abuelgasim KA, Nouraie M, Salomon-Andonie J, Niu X, Miasnikova G, Polyakova LA, Sergueeva A, Okhotin DJ, Cherqaoui R, Okhotin D, Cox JE, Swierczek S, Song J, Simon MC, Huang J, Simcox JA, Yoon D, Prchal JT, Gordeuk VR.
    J Mol Med (Berl); 2013 Jan 10; 91(1):59-67. PubMed ID: 23015148
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  • 6. Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
    Perrotta S, Nobili B, Ferraro M, Migliaccio C, Borriello A, Cucciolla V, Martinelli V, Rossi F, Punzo F, Cirillo P, Parisi G, Zappia V, Rotoli B, Della Ragione F.
    Blood; 2006 Jan 15; 107(2):514-9. PubMed ID: 16210343
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  • 7. The von Hippel-Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice.
    Hickey MM, Richardson T, Wang T, Mosqueira M, Arguiri E, Yu H, Yu QC, Solomides CC, Morrisey EE, Khurana TS, Christofidou-Solomidou M, Simon MC.
    J Clin Invest; 2010 Mar 15; 120(3):827-39. PubMed ID: 20197624
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  • 8. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
    Pastore Y, Jedlickova K, Guan Y, Liu E, Fahner J, Hasle H, Prchal JF, Prchal JT.
    Am J Hum Genet; 2003 Aug 15; 73(2):412-9. PubMed ID: 12844285
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  • 10. Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
    Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, Butman JA, Jedlickova K, Prchal JT, Polyakova LA.
    Blood; 2004 May 15; 103(10):3924-32. PubMed ID: 14726398
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  • 11. von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.
    Hickey MM, Lam JC, Bezman NA, Rathmell WK, Simon MC.
    J Clin Invest; 2007 Dec 15; 117(12):3879-89. PubMed ID: 17992257
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  • 13. Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
    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.
    Nat Med; 2011 Jun 19; 17(7):845-53. PubMed ID: 21685897
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  • 15. The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
    Sarangi S, Lanikova L, Kapralova K, Acharya S, Swierczek S, Lipton JM, Wolfe L, Prchal JT.
    Pediatr Blood Cancer; 2014 Nov 19; 61(11):2104-6. PubMed ID: 24729484
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  • 16. Therapeutic inhibition of HIF-2α reverses polycythemia and pulmonary hypertension in murine models of human diseases.
    Ghosh MC, Zhang DL, Ollivierre WH, Noguchi A, Springer DA, Linehan WM, Rouault TA.
    Blood; 2021 May 06; 137(18):2509-2519. PubMed ID: 33512384
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  • 17. Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.
    van Rooijen E, Voest EE, Logister I, Korving J, Schwerte T, Schulte-Merker S, Giles RH, van Eeden FJ.
    Blood; 2009 Jun 18; 113(25):6449-60. PubMed ID: 19304954
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  • 18. Altered cytokine profiles in patients with Chuvash polycythemia.
    Niu X, Miasnikova GY, Sergueeva AI, Polyakova LA, Okhotin DJ, Tuktanov NV, Nouraie M, Ammosova T, Nekhai S, Gordeuk VR.
    Am J Hematol; 2009 Feb 18; 84(2):74-8. PubMed ID: 19062180
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  • 19. Endemic polycythemia in Russia: mutation in the VHL gene.
    Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT.
    Blood Cells Mol Dis; 2002 Feb 18; 28(1):57-62. PubMed ID: 11987242
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  • 20. Mutations in the VHL gene in sporadic apparently congenital polycythemia.
    Pastore YD, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, Krishnamurti L, Prchal JT.
    Blood; 2003 Feb 15; 101(4):1591-5. PubMed ID: 12393546
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