共 9 条
Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension
被引:42
作者:

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Gale, Daniel P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Rayne Inst, Div Med, London, England
Univ London Imperial Coll Sci Technol & Med, Kidney & Transplant Unit, London W12 0NN, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England

Connor, Thomas
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UCL, Rayne Inst, Div Med, London, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England

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de Boer, Jasper
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Mol Haematol & Canc Biol Unit, London, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England

Gascoyne, Duncan M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Mol Haematol & Canc Biol Unit, London, England
Univ Oxford, Nuffield Dept Clin Lab Sci, Oxford, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England

Williams, Owen
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h-index: 0
机构:
UCL, Inst Child Hlth, Mol Haematol & Canc Biol Unit, London, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England

Maxwell, Patrick H.
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机构:
UCL, Rayne Inst, Div Med, London, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England

Ancliff, Philip J.
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h-index: 0
机构:
UCL, Inst Child Hlth, Mol Haematol & Canc Biol Unit, London, England Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England
机构:
[1] Univ London Imperial Coll Sci Technol & Med, MRC Clin Sci Ctr, London W12 0NN, England
[2] UCL, Great Ormond St Hosp Children, Mol Haematol & Canc Biol Unit, Inst Child Hlth,Dept Haematol, London, England
[3] UCL, Rayne Inst, Div Med, London, England
[4] Univ London Imperial Coll Sci Technol & Med, Kidney & Transplant Unit, London W12 0NN, England
[5] UCL, Inst Child Hlth, Mol Haematol & Canc Biol Unit, London, England
[6] Univ Oxford, Nuffield Dept Clin Lab Sci, Oxford, England
来源:
基金:
英国医学研究理事会;
关键词:
CHUVASH POLYCYTHEMIA;
OXYGEN HOMEOSTASIS;
D O I:
10.1182/blood-2010-12-327569
中图分类号:
R5 [内科学];
学科分类号:
100201 [内科学];
摘要:
引用
收藏
页码:3699 / 3701
页数:5
相关论文
共 9 条
[1]
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
[J].
Ang, SO
;
Chen, H
;
Hirota, K
;
Gordeuk, VR
;
Jelinek, J
;
Guan, YL
;
Liu, EL
;
Sergueeva, AI
;
Miasnikova, GY
;
Mole, D
;
Maxwell, PH
;
Stockton, DW
;
Semenza, GL
;
Prchal, JT
.
NATURE GENETICS,
2002, 32 (04)
:614-621

Ang, SO
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Chen, H
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Hirota, K
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Gordeuk, VR
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Jelinek, J
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Guan, YL
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Liu, EL
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Sergueeva, AI
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Miasnikova, GY
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Mole, D
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Maxwell, PH
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Stockton, DW
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Semenza, GL
论文数: 0 引用数: 0
h-index: 0
机构: Baylor Coll Med, Dept Med, Houston, TX 77030 USA

Prchal, JT
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Med, Houston, TX 77030 USA Baylor Coll Med, Dept Med, Houston, TX 77030 USA
[2]
Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation
[J].
Gale, Daniel P.
;
Harten, Sarah K.
;
Reid, Cecil D. L.
;
Tuddenham, Edward G. D.
;
Maxwell, Patrick H.
.
BLOOD,
2008, 112 (03)
:919-921

Gale, Daniel P.
论文数: 0 引用数: 0
h-index: 0
机构:
Rayne Inst, Div Med, London WC1E 6JF, England Rayne Inst, Div Med, London WC1E 6JF, England

Harten, Sarah K.
论文数: 0 引用数: 0
h-index: 0
机构:
Rayne Inst, Div Med, London WC1E 6JF, England Rayne Inst, Div Med, London WC1E 6JF, England

Reid, Cecil D. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Rayne Inst, Div Med, London WC1E 6JF, England Rayne Inst, Div Med, London WC1E 6JF, England

Tuddenham, Edward G. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Rayne Inst, Div Med, London WC1E 6JF, England Rayne Inst, Div Med, London WC1E 6JF, England

Maxwell, Patrick H.
论文数: 0 引用数: 0
h-index: 0
机构:
Rayne Inst, Div Med, London WC1E 6JF, England Rayne Inst, Div Med, London WC1E 6JF, England
[3]
Congenital disorder of oxygen sensing:: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors
[J].
Gordeuk, VR
;
Sergueeva, AI
;
Miasnikova, GY
;
Okhotin, D
;
Voloshin, Y
;
Choyke, PL
;
Butman, JA
;
Jedlickova, K
;
Prchal, JT
;
Polyakova, LA
.
BLOOD,
2004, 103 (10)
:3924-3932

Gordeuk, VR
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Sergueeva, AI
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Miasnikova, GY
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Okhotin, D
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

论文数: 引用数:
h-index:
机构:

Choyke, PL
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Butman, JA
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Jedlickova, K
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Prchal, JT
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA

Polyakova, LA
论文数: 0 引用数: 0
h-index: 0
机构: Howard Univ, Ctr Sickle Cell Dis, Washington, DC 20059 USA
[4]
The von Hippel-Lindau Chuvash mutation promotes pulmonary hypertension and fibrosis in mice
[J].
Hickey, Michele M.
;
Richardson, Theresa
;
Wang, Tao
;
Mosqueira, Matias
;
Arguiri, Evguenia
;
Yu, Hongwei
;
Yu, Qian-Chun
;
Solomides, Charalambos C.
;
Morrisey, Edward E.
;
Khurana, Tejvir S.
;
Christofidou-Solomidou, Melpo
;
Simon, M. Celeste
.
JOURNAL OF CLINICAL INVESTIGATION,
2010, 120 (03)
:827-839

Hickey, Michele M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Cell & Mol Biol Grad Grp, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Richardson, Theresa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Wang, Tao
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Cardiovasc Inst, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Mosqueira, Matias
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Arguiri, Evguenia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Yu, Hongwei
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Yu, Qian-Chun
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Solomides, Charalambos C.
论文数: 0 引用数: 0
h-index: 0
机构:
Thomas Jefferson Med Coll, Dept Pathol Anat & Cell Biol, Philadelphia, PA USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Morrisey, Edward E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Cell & Mol Biol Grad Grp, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Cardiovasc Inst, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Khurana, Tejvir S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Cell & Mol Biol Grad Grp, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Dept Physiol, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Penn Muscle Inst, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Christofidou-Solomidou, Melpo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA

Simon, M. Celeste
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA
Univ Penn, Sch Med, Cell & Mol Biol Grad Grp, Philadelphia, PA 19104 USA Univ Penn, Howard Hughes Med Inst, Abramson Family Canc Res Inst, Sch Med, Philadelphia, PA 19104 USA
[5]
HIF-1-mediated expression of pyruvate dehydrogenase kinase: A metabolic switch required for cellular adaptation to hypoxia
[J].
Kim, JW
;
Tchernyshyov, I
;
Semenza, GL
;
Dang, CV
.
CELL METABOLISM,
2006, 3 (03)
:177-185

Kim, JW
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Grad Program Pathobiol, Dept Med, Baltimore, MD 21205 USA

Tchernyshyov, I
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Grad Program Pathobiol, Dept Med, Baltimore, MD 21205 USA

Semenza, GL
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Sch Med, Grad Program Pathobiol, Dept Med, Baltimore, MD 21205 USA

Dang, CV
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Grad Program Pathobiol, Dept Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Grad Program Pathobiol, Dept Med, Baltimore, MD 21205 USA
[6]
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
[J].
Percy, Melanie J.
;
Furlow, Paul W.
;
Lucas, Guy S.
;
Li, Xiping
;
Lappin, Terence R. J.
;
McMullin, Mary Frances
;
Lee, Frank S.
.
NEW ENGLAND JOURNAL OF MEDICINE,
2008, 358 (02)
:162-168

Percy, Melanie J.
论文数: 0 引用数: 0
h-index: 0
机构:
Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland

Furlow, Paul W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland

Lucas, Guy S.
论文数: 0 引用数: 0
h-index: 0
机构:
Manchester Royal Infirm, Manchester M13 9WL, Lancs, England Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland

Li, Xiping
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Lee, Frank S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland
[7]
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
[J].
Percy, MJ
;
Zhao, Q
;
Flores, A
;
Harrison, C
;
Lappin, TRJ
;
Maxwell, PH
;
McMullin, MF
;
Lee, FS
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2006, 103 (03)
:654-659

Percy, MJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

Zhao, Q
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

Flores, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Maxwell, PH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

论文数: 引用数:
h-index:
机构:

Lee, FS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
[8]
HIF-1 mediates the Warburg effect in clear cell renal carcinoma
[J].
Semenza, Gregg L.
.
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES,
2007, 39 (03)
:231-234

Semenza, Gregg L.
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Inst Cell Engn, Baltimore, MD 21205 USA
[9]
Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology
[J].
Smith, Thomas G.
;
Brooks, Jerome T.
;
Balanos, George M.
;
Lappin, Terence R.
;
Layton, D. Mark
;
Leedham, Dawn L.
;
Liu, Chun
;
Maxwell, Patrick H.
;
McMullin, Mary F.
;
McNamara, Christopher J.
;
Percy, Melanie J.
;
Pugh, Christopher W.
;
Ratcliffe, Peter J.
;
Talbot, Nick P.
;
Treacy, Marilyn
;
Robbins, Peter A.
.
PLOS MEDICINE,
2006, 3 (07)
:1178-1186

Smith, Thomas G.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Brooks, Jerome T.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Balanos, George M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Lappin, Terence R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Layton, D. Mark
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Leedham, Dawn L.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Liu, Chun
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Maxwell, Patrick H.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

McMullin, Mary F.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

McNamara, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Percy, Melanie J.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Pugh, Christopher W.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Ratcliffe, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Talbot, Nick P.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Treacy, Marilyn
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England

Robbins, Peter A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 2JD, England
