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Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.

Tan Q, Kerestes H, Percy MJ, Pietrofesa R, Chen L, Khurana TS, Christofidou-Solomidou M, Lappin TR, Lee FS.

J Biol Chem. 2013 Jun 14;288(24):17134-44. doi: 10.1074/jbc.M112.444059. Epub 2013 May 2.


Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR, Lee FS.

J Biol Chem. 2009 Apr 3;284(14):9050-8. doi: 10.1074/jbc.M808737200. Epub 2009 Feb 10.


Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

van Wijk R, Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, Lee FS.

Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582. Epub 2009 Dec 8.


A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism.

Arsenault PR, Pei F, Lee R, Kerestes H, Percy MJ, Keith B, Simon MC, Lappin TR, Khurana TS, Lee FS.

J Biol Chem. 2013 Nov 22;288(47):33571-84. doi: 10.1074/jbc.M113.482364. Epub 2013 Oct 11.


Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

Perrotta S, Stiehl DP, Punzo F, Scianguetta S, Borriello A, Bencivenga D, Casale M, Nobili B, Fasoli S, Balduzzi A, Cro L, Nytko KJ, Wenger RH, Della Ragione F.

Haematologica. 2013 Oct;98(10):1624-32. doi: 10.3324/haematol.2013.088369. Epub 2013 May 28.


The HIF pathway and erythrocytosis.

Lee FS, Percy MJ.

Annu Rev Pathol. 2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321. Review.


Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR, McMullin MF, Lee FS.

Blood. 2008 Jun 1;111(11):5400-2. doi: 10.1182/blood-2008-02-137703. Epub 2008 Mar 31.


A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS.

N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.


Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.

Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y.

Pediatrics. 2014 Jun;133(6):e1787-91. doi: 10.1542/peds.2013-2419. Epub 2014 May 12.


HIF-1α is a protective factor in conditional PHD2-deficient mice suffering from severe HIF-2α-induced excessive erythropoiesis.

Franke K, Kalucka J, Mamlouk S, Singh RP, Muschter A, Weidemann A, Iyengar V, Jahn S, Wieczorek K, Geiger K, Muders M, Sykes AM, Poitz DM, Ripich T, Otto T, Bergmann S, Breier G, Baretton G, Fong GH, Greaves DR, Bornstein S, Chavakis T, Fandrey J, Gassmann M, Wielockx B.

Blood. 2013 Feb 21;121(8):1436-45. doi: 10.1182/blood-2012-08-449181. Epub 2012 Dec 20.


Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.

Semenza GL.

Blood. 2009 Sep 3;114(10):2015-9. doi: 10.1182/blood-2009-05-189985. Epub 2009 Jun 3. Review.


Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia.

Brusselmans K, Compernolle V, Tjwa M, Wiesener MS, Maxwell PH, Collen D, Carmeliet P.

J Clin Invest. 2003 May;111(10):1519-27.


Association between serum concentrations of hypoxia inducible factor responsive proteins and excessive erythrocytosis in high altitude Peru.

Painschab MS, Malpartida GE, Dávila-Roman VG, Gilman RH, Kolb TM, León-Velarde F, Miranda JJ, Checkley W.

High Alt Med Biol. 2015 Mar;16(1):26-33. doi: 10.1089/ham.2014.1086. Epub 2015 Mar 11.


Integrity of the prolyl hydroxylase domain protein 2:erythropoietin pathway in aging mice.

Li X, Sutherland S, Takeda K, Fong GH, Lee FS.

Blood Cells Mol Dis. 2010 Jun 15;45(1):9-19. doi: 10.1016/j.bcmd.2010.03.003. Epub 2010 Apr 18.


HIF pathway mutations and erythrocytosis.

McMullin MF.

Expert Rev Hematol. 2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68. Review.


The IRP1-HIF-2α axis coordinates iron and oxygen sensing with erythropoiesis and iron absorption.

Anderson SA, Nizzi CP, Chang YI, Deck KM, Schmidt PJ, Galy B, Damnernsawad A, Broman AT, Kendziorski C, Hentze MW, Fleming MD, Zhang J, Eisenstein RS.

Cell Metab. 2013 Feb 5;17(2):282-90. doi: 10.1016/j.cmet.2013.01.007.


Endothelin-1 inhibits prolyl hydroxylase domain 2 to activate hypoxia-inducible factor-1alpha in melanoma cells.

Spinella F, Rosanò L, Del Duca M, Di Castro V, Nicotra MR, Natali PG, Bagnato A.

PLoS One. 2010 Jun 21;5(6):e11241. doi: 10.1371/journal.pone.0011241.

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