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Volumn 112, Issue 3, 2008, Pages 919-921

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2ά mutation

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; HYPOXIA INDUCIBLE FACTOR 2ALPHA; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; ENDOTHELIAL PAS DOMAIN CONTAINING PROTEIN 1; ENDOTHELIAL PAS DOMAIN-CONTAINING PROTEIN 1;

EID: 50949133897     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-04-153718     Document Type: Letter
Times cited : (138)

References (10)
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  • 2
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    • A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
    • Percy MJ, Zhao Q, Flores A, et al. A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci USA. 2006;103:654-659.
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  • 3
    • 38049173572 scopus 로고    scopus 로고
    • Again-of-function mutation in the HIF2A gene in familial erythrocytosis
    • Percy MJ, Furlow PW, Lucas GS, et al. Again-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med. 2008;358:162-168.
    • (2008) N Engl J Med , vol.358 , pp. 162-168
    • Percy, M.J.1    Furlow, P.W.2    Lucas, G.S.3
  • 5
    • 9444283176 scopus 로고    scopus 로고
    • Differentiating the functional role of hypoxia-inducible factor (HIF)-1 alpha and HIF-2alpha (EPAS-1) by the use of RNA interference: Erythropoietin is a HIF-2alpha target gene in Hep3B and Kelly cells
    • Warnecke C, Zaborowska Z, Kurreck J, et al. Differentiating the functional role of hypoxia-inducible factor (HIF)-1 alpha and HIF-2alpha (EPAS-1) by the use of RNA interference: erythropoietin is a HIF-2alpha target gene in Hep3B and Kelly cells. FASEB J. 2004;18:1462-1464.
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    • Warnecke, C.1    Zaborowska, Z.2    Kurreck, J.3
  • 6
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    • von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis
    • Hickey MM, Lam JC, Bezman NA, et al. von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. J Clin Invest. 2007;117:3879-3889.
    • (2007) J Clin Invest , vol.117 , pp. 3879-3889
    • Hickey, M.M.1    Lam, J.C.2    Bezman, N.A.3
  • 7
    • 0037315337 scopus 로고    scopus 로고
    • Widespread hypoxiainducible expression of HIF-2alpha in distinct cell populations of different organs
    • Wiesener MS, Jurgensen JS, Rosenberger C, et al. Widespread hypoxiainducible expression of HIF-2alpha in distinct cell populations of different organs. FASEB J. 2003;17:271-273.
    • (2003) FASEB J , vol.17 , pp. 271-273
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  • 8
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    • Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology
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  • 9
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    • Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia
    • Bushuev VI, Miasnikova GY, Sergueeva AI. et al. Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia. Haematologica. 2006;91:744-749.
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    • Brusselmans K, Compernolle V, Tjwa M, et al. Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia. J Clin Invest. 2003;111:1519-1527.
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    • Brusselmans, K.1    Compernolle, V.2    Tjwa, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.