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Items: 1 to 20 of 102

1.

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;98(4):560-7. doi: 10.3324/haematol.2012.070508. Epub 2013 Feb 12.

2.

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;61(11):2104-6. doi: 10.1002/pbc.25056. Epub 2014 Apr 12.

PMID:
24729484
3.

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;73(2):412-9. Epub 2003 Jul 3. Erratum in: Am J Hum Genet. 2004 Mar;74(3):598.

4.

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. doi: 10.1038/nm.2370.

5.

Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).

Sable CA, Aliyu ZY, Dham N, Nouraie M, Sachdev V, Sidenko S, Miasnikova GY, Polyakova LA, Sergueeva AI, Okhotin DJ, Bushuev V, Remaley AT, Niu X, Castro OL, Gladwin MT, Kato GJ, Prchal JT, Gordeuk VR.

Haematologica. 2012 Feb;97(2):193-200. doi: 10.3324/haematol.2011.051839. Epub 2011 Oct 11.

6.

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;91(1):59-67. doi: 10.1007/s00109-012-0961-5. Epub 2012 Sep 27.

7.
8.

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. doi: 10.1182/blood-2011-03-345512. Epub 2011 Aug 29.

9.

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. Epub 2002 Oct 10.

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. Epub 2004 Jan 15.

11.

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, McMullin MF, Polyakova LA, Ang SO, Pastore YD, Jedlickova K, Lappin TR, Gordeuk V, Prchal JT.

Blood. 2004 Mar 1;103(5):1937-40. Epub 2003 Nov 6.

12.

Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, Uhle R, Debatin KM, Kohne E.

Haematologica. 2005 Jan;90(1):19-24.

13.

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. doi: 10.3324/haematol.2011.045609. Epub 2011 May 23.

14.

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Lanikova L, Lorenzo F, Yang C, Vankayalapati H, Drachtman R, Divoky V, Prchal JT.

Blood. 2013 May 9;121(19):3918-24. doi: 10.1182/blood-2012-11-469296. Epub 2013 Mar 28.

15.

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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.

Nat Genet. 2002 Dec;32(4):614-21. Epub 2002 Nov 4.

PMID:
12415268
16.

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;120(3):827-39. doi: 10.1172/JCI36362. Epub 2010 Feb 8.

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. doi: 10.1182/blood-2008-07-167890. Epub 2009 Mar 20.

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;84(2):74-8. doi: 10.1002/ajh.21327.

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 Jan-Feb;28(1):57-62.

PMID:
11987242
20.

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. Epub 2005 Oct 6.

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