A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma-Reference-Cited by-同舟云学术

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A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

Published:2012-10-23 Issue:4 Volume:91 Page:507-512
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Lorenzo Felipe R.,Yang Chunzhang,Ng Tang Fui Mark,Vankayalapati Hariprasad,Zhuang Zhengping,Huynh Thanh,Grossmann Mathis,Pacak Karel,Prchal Josef T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-012-0967-z.pdf

Reference25 articles.

1. Prchal JT (2003) Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis. Hematol Oncol Clin North Am 17:1151–1158, vi

2. Semenza GL (2001) HIF-1 and mechanisms of hypoxia sensing. Curr Opin Cell Biol 13:167–171

3. Wang GL, Semenza GL (1993) General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia. Proc Natl Acad Sci U S A 90:4304–4308

4. Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS (2008) A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 358:162–168

5. Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT (2002) Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol Dis 28:57–62

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