Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

被引：132

作者：

Gale, Daniel P. ^{[1
]}

Harten, Sarah K. ^{[1
]}

Reid, Cecil D. L. ^{[1
]}

Tuddenham, Edward G. D. ^{[1
]}

Maxwell, Patrick H. ^{[1
]}

机构：

[1] Rayne Inst, Div Med, London WC1E 6JF, England

来源：

BLOOD | 2008年 / 112卷 / 03期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1182/blood-2008-04-153718

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：919 / 921

页数：3

共 10 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

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

Brusselmans, K ;

Compernolle, V ;

Tjwa, M ;

Wiesener, MS ;

Maxwell, PH ;

Collen, D ;

Carmeliet, P .

JOURNAL OF CLINICAL INVESTIGATION, 2003, 111 (10) :1519-1527

[3]

Bushuev VI, 2006, HAEMATOLOGICA, V91, P744

[4] Von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2α signaling and splenic erythropoiesis [J].

Hickey, Michele M. ;

Lam, Jennifer C. ;

Bezman, Natalie A. ;

Rathmell, W. Kirnryn ;

Simon, M. Celeste .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (12) :3879-3889

[5]

HOWARTH C, 1979, SCAND J HAEMATOL, V23, P217

[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

[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

[8] 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

[9] Differentiating the functional role of hypoxia-inducible factor (HIF)-1α and HIF-2α (EPAS-1) by the use of RNA interference:: erythropoietin is a HIF-2α target gene in Hep3B and Kelly cells [J].

Warnecke, C ;

Zaborowska, Z ;

Kurreck, J ;

Erdmann, VA ;

Frei, U ;

Wiesener, M ;

Eckardt, KU .

FASEB JOURNAL, 2004, 18 (10) :1462-+

[10] Widespread, hypoxia-inducible expression of HIF-2α in distinct cell populations of different organs [J].

Wiesener, MS ;

Jürgensen, JS ;

Rosenberger, C ;

Scholze, C ;

Hörstrup, JH ;

Warnecke, C ;

Mandriota, S ;

Bechmann, I ;

Frei, UA ;

Pugh, CW ;

Ratcliffe, PJ ;

Bachmann, S ;

Maxwell, PH ;

Eckardt, KU .

FASEB JOURNAL, 2002, 16 (14) :271-+

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