메뉴 건너뛰기




Volumn 77, Issue 2, 2008, Pages 86-88

Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; GLYCINE; HYPOXIA INDUCIBLE FACTOR 2ALPHA; OXYGEN; PROTEASOME; TRYPTOPHAN;

EID: 44449148359     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (11)

References (10)
  • 1
    • 0042744741 scopus 로고    scopus 로고
    • Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
    • Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, et al. Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. Blood 2003;102 (3):1097-9.
    • (2003) Blood , vol.102 , Issue.3 , pp. 1097-1099
    • Percy, M.J.1    McMullin, M.F.2    Jowitt, S.N.3    Potter, M.4    Treacy, M.5    Watson, W.H.6
  • 3
    • 18744373593 scopus 로고    scopus 로고
    • Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    • Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002;32 (4):614-21.
    • (2002) Nat Genet , vol.32 , Issue.4 , pp. 614-621
    • Ang, S.O.1    Chen, H.2    Hirota, K.3    Gordeuk, V.R.4    Jelinek, J.5    Guan, Y.6
  • 4
    • 10744232594 scopus 로고    scopus 로고
    • 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, et al. The worldwide distribution of the VHL. 598C>T mutation indicates a single founding event. Blood 2004;103(5):1937-40.
    • (2004) Blood , vol.103 , Issue.5 , pp. 1937-1940
    • Liu, E.1    Percy, M.J.2    Amos, C.I.3    Guan, Y.4    Shete, S.5    Stockton, D.W.6
  • 5
    • 31444436640 scopus 로고    scopus 로고
    • A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
    • Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, 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(3):654-9.
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.3 , pp. 654-659
    • Percy, M.J.1    Zhao, Q.2    Flores, A.3    Harrison, C.4    Lappin, T.R.5    Maxwell, P.H.6
  • 6
    • 34548848799 scopus 로고    scopus 로고
    • A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove
    • Percy MJ, Furlow PW, Beer PA, Lappin TR, McMullin MF, Lee FS, et al. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. Blood 2007;110:2193-6.
    • (2007) Blood , vol.110 , pp. 2193-2196
    • Percy, M.J.1    Furlow, P.W.2    Beer, P.A.3    Lappin, T.R.4    McMullin, M.F.5    Lee, F.S.6
  • 7
    • 38949112460 scopus 로고    scopus 로고
    • Disturbance in the HIF-1alpha pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2)
    • Al-Sheikh M, Moradkhani K, Lopez M, Wajcman H, Préhu C. Disturbance in the HIF-1alpha pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2). Blood Cells Mol Dis 2008; 40(2): 160-5.
    • (2008) Blood Cells Mol Dis , vol.40 , Issue.2 , pp. 160-165
    • Al-Sheikh, M.1    Moradkhani, K.2    Lopez, M.3    Wajcman, H.4    Préhu, C.5
  • 8
    • 2942624259 scopus 로고    scopus 로고
    • A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation
    • Percy MJ, Mooney SM, McMullin MF, Flores A, Lappin TR, Lee FS. A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation. Mol Cancer 2003;2(1):31.
    • (2003) Mol Cancer , vol.2 , Issue.1 , pp. 31
    • Percy, M.J.1    Mooney, S.M.2    McMullin, M.F.3    Flores, A.4    Lappin, T.R.5    Lee, F.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.