Citations for
1ECYT4, EPAS1
Two new mutations in the HIF2A gene associated with erythrocytosis.
Percy MJ, Chung YJ, Harrison C, Mercieca J, Hoffbrand AV, Dinardo CL, Santos PC, Fonseca GH, Gualandro SF, Pereira AC, Lappin TR, McMullin MF, Lee FS.
Am J Hematol 87(4):439-42. doi: 10.1002/ajh.23123. Epub 2012 Feb 24. No abstract available. 2012
2EPAS1
Renal tubular HIF-2α expression requires VHL inactivation and causes fibrosis and cysts.
Schietke RE, Hackenbeck T, Tran M, Günther R, Klanke B, Warnecke CL, Knaup KX, Shukla D, Rosenberger C, Koesters R, Bachmann S, Betz P, Schley G, Schödel J, Willam C, Winkler T, Amann K, Eckardt KU, Maxwell P, Wiesener MS.
PLoS One 7(1):e31034. Epub 2012 Jan 27. 2012
3EPAS1
Hypoxia-inducible factor 2α plays a critical role in the formation of alveoli and surfactant.
Huang Y, Kempen MB, Munck AB, Swagemakers S, Driegen S, Mahavadi P, Meijer D, van Ijcken W, van der Spek P, Grosveld F, Günther A, Tibboel D, Rottier RJ.
Am J Respir Cell Mol Biol 46(2):224-32. 2012
4CEBPB, EPAS1, MMP13, RUNX2
C/EBPB and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2á as the inducer in chondrocytes.
Hirata M, Kugimiya F, Fukai A, Saito T, Yano F, Ikeda T, Mabuchi A, Sapkota BR, Akune T, Nishida N, Yoshimura N, Nakagawa T, Tokunaga K, Nakamura K, Chung UI, Kawaguchi H.
Hum Mol Genet 21(5):1111-23. doi: 10.1093/hmg/ddr540. Epub 2011 Nov 17. 2012
5CD82, EPAS1
HIF-2 directly activates CD82 gene expression in endothelial cells.
Nagao K, Oka K.
Biochem Biophys Res Commun 407(1):260-5. Epub 2011 Mar 5. 2011
6EPAS1, HIF1A
Opposite effects of HIF-1α and HIF-2α on the regulation of IL-8 expression in endothelial cells.
Florczyk U, Czauderna S, Stachurska A, Tertil M, Nowak W, Kozakowska M, Poellinger L, Jozkowicz A, Loboda A, Dulak J.
Free Radic Biol Med 51(10):1882-92. Epub 2011 Aug 30. 2011
7EPAS1, HIF1A
Differential hypoxic regulation of hypoxia-inducible factors 1alpha and 2alpha.
Lin Q, Cong X, Yun Z.
Mol Cancer Res 9(6):757-65. Epub 2011 May 13. 2011
8EPAS1, KLHL20
Kelch-like 20 up-regulates the expression of hypoxia-inducible factor-2α through hypoxia- and von Hippel-Lindau tumor suppressor protein-independent regulatory mechanisms.
Higashimura Y, Terai T, Yamaji R, Mitani T, Ogawa M, Harada N, Inui H, Nakano Y.
Biochem Biophys Res Commun 413(2):201-5. Epub 2011 Aug 24. 2011
9EPAS1, RNF4, VHL
RNF4 and VHL regulate the proteasomal degradation of SUMO-conjugated Hypoxia-Inducible Factor-2alpha.
van Hagen M, Overmeer RM, Abolvardi SS, Vertegaal AC.
Nucleic Acids Res 38(6):1922-31. Epub 2009 Dec 21. 2010
10EPAS1, PPARGC1A
PGC-1alpha regulates a HIF2alpha-dependent switch in skeletal muscle fiber types.
Rasbach KA, Gupta RK, Ruas JL, Wu J, Naseri E, Estall JL, Spiegelman BM.
Proc Natl Acad Sci U S A 107(50):21866-71. Epub 2010 Nov 24. 2010
11ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Percy MJ, Rumi E.
Am J Hematol 84(1):46-54. Review. 2009
12AGTR1, CETP, EPAS1, GP1BA, IHH, TBX5
Genetic contributions to the development of retinopathy of prematurity.
Mohamed S, Schaa K, Cooper ME, Ahrens E, Alvarado A, Colaizy T, Marazita ML, Murray JC, Dagle JM.
Pediatr Res 65(2):193-7. 2009
13EPAS1
Artificial ligand binding within the HIF2alpha PAS-B domain of the HIF2 transcription factor.
Scheuermann TH, Tomchick DR, Machius M, Guo Y, Bruick RK, Gardner KH.
Proc Natl Acad Sci U S A 106(2):450-5. Epub 2009 Jan 7. 2009
14ADORA2A, EPAS1
Adenosine A2A receptor is a unique angiogenic target of HIF-2alpha in pulmonary endothelial cells.
Ahmad A, Ahmad S, Glover L, Miller SM, Shannon JM, Guo X, Franklin WA, Bridges JP, Schaack JB, Colgan SP, White CW.
Proc Natl Acad Sci U S A 106(26):10684-9. Epub 2009 Jun 17.PMID: 19541651 2009
15ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V.
Haematologica 93(7):1072-5. Epub 2008 May 19. 2008
16SOX9, EPAS1
Hypoxia promotes the differentiated human articular chondrocyte phenotype through SOX9-dependent and -independent pathways.
Lafont JE, Talma S, Hopfgarten C, Murphy CL.
J Biol Chem 283(8):4778-86. Epub 2007 Dec 12. 2008
17ECYT4, EPAS1
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.
Percy MJ.
Ulster Med J 77(2):86-8. Review. 2008
18ECYT4, EPAS1
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
Martini M, Teofili L, Cenci T, Giona F, Torti L, Rea M, Foà R, Leone G, Larocca LM.
Haematologica 93(7):1068-71. Epub 2008 May 27. 2008
19EPAS1, MTOR
Differential dependence of hypoxia-inducible factors 1 alpha and 2 alpha on mTORC1 and mTORC2.
Toschi A, Lee E, Gadir N, Ohh M, Foster DA.
J Biol Chem 283(50):34495-9. Epub 2008 Oct 22. 2008
20EPAS1
Heterogeneity in binding and gene-expression regulation by HIF-2alpha.
Koizume S, Yokota N, Miyagi E, Hirahara F, Tsuchiya E, Miyagi Y.
Biochem Biophys Res Commun 371(2):251-5. Epub 2008 Apr 28. 2008
21ECYT4, EPAS1
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 358(2):162-8.PMID: 18184961 2008
22EPAS1, TWIST1
The TWIST1 oncogene is a direct target of hypoxia-inducible factor-2alpha.
Gort EH, van Haaften G, Verlaan I, Groot AJ, Plasterk RH, Shvarts A, Suijkerbuijk KP, van Laar T, van der Wall E, Raman V, van Diest PJ, Tijsterman M, Vooijs M.
Oncogene 27(11):1501-10. Epub 2007 Sep 17.PMID: 17873906 2008
23ECYT4, EPAS1
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 111(11):5400-2. Epub 2008 Mar 31.PMID: 18378852 2008
24EPAS1
The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes.
Henderson J, Withford-Cave JM, Duffy DL, Cole SJ, Sawyer NA, Gulbin JP, Hahn A, Trent RJ, Yu B.
Hum Genet 118(3-4):416-23. Epub 2005 Oct 6. 2005
25EPAS1, HIF1A
Subcellular localization and regulation of hypoxia-inducible factor-2alpha in vascular endothelial cells.
Takahashi R, Kobayashi C, Kondo Y, Nakatani Y, Kudo I, Kunimoto M, Imura N, Hara S.
Biochem Biophys Res Commun 317(1):84-91. 2004
26EPAS1
Endothelial PAS domain protein 1 (EPAS1) induces adrenomedullin gene expression in cardiac myocytes: role of EPAS1 in an inflammatory response in cardiac myocytes.
Tanaka T, Akiyama H, Kanai H, Sato M, Takeda S, Sekiguchi K, Yokoyama T, Kurabayashi M.
J Mol Cell Cardiol 34(7):739-48. 2002
27EPAS1
The transcription factor EPAS-1/hypoxia-inducible factor 2alpha plays an important role in vascular remodeling.
Peng J, Zhang L, Drysdale L, Fong GH.
Proc Natl Acad Sci U S A 97(15):8386-91. 2000
28EPAS1, VHL
Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.
Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ, Maxwell PH.
J Biol Chem 275(33):25733-41. 2000