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Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.

作者信息

Gordeuk Victor R, Miasnikova Galina Y, Sergueeva Adelina I, Lorenzo Felipe R, Zhang Xu, Song Jihyun, Stockton David W, Prchal Josef T

机构信息

Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA

Chuvash Republic Clinical Hospital, Cheboksary, Russia.

出版信息

Haematologica. 2020 Mar;105(3):e87-e90. doi: 10.3324/haematol.2019.216267. Epub 2019 Jul 9.

Abstract
摘要

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HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Nat Commun. 2018 Aug 22;9(1):3359. doi: 10.1038/s41467-018-05554-1.
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Prospective study of thrombosis and thrombospondin-1 expression in Chuvash polycythemia.
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EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells.
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Iron deficiency modifies gene expression variation induced by augmented hypoxia sensing.
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Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
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The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
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