Literature DB >> 18650473

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

Daniel P Gale, Sarah K Harten, Cecil D L Reid, Edward G D Tuddenham, Patrick H Maxwell.   

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Year:  2008        PMID： 18650473     DOI： 10.1182/blood-2008-04-153718

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  74 in total

1.  Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.

Authors:  Cynthia M Beall; Gianpiero L Cavalleri; Libin Deng; Robert C Elston; Yang Gao; Jo Knight; Chaohua Li; Jiang Chuan Li; Yu Liang; Mark McCormack; Hugh E Montgomery; Hao Pan; Peter A Robbins; Kevin V Shianna; Siu Cheung Tam; Ngodrop Tsering; Krishna R Veeramah; Wei Wang; Puchung Wangdui; Michael E Weale; Yaomin Xu; Zhe Xu; Ling Yang; M Justin Zaman; Changqing Zeng; Li Zhang; Xianglong Zhang; Pingcuo Zhaxi; Yong Tang Zheng
Journal:  Proc Natl Acad Sci U S A       Date:  2010-06-07       Impact factor: 11.205

2.  Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.

Authors:  Charline Ladroue; David Hoogewijs; Sophie Gad; Romain Carcenac; Federica Storti; Michel Barrois; Anne-Paule Gimenez-Roqueplo; Michel Leporrier; Nicole Casadevall; Olivier Hermine; Jean-Jacques Kiladjian; André Baruchel; Fadi Fakhoury; Brigitte Bressac-de Paillerets; Jean Feunteun; Nathalie Mazure; Jacques Pouysségur; Roland H Wenger; Stéphane Richard; Betty Gardie
Journal:  Haematologica       Date:  2011-09-20       Impact factor: 9.941

Review 3.  Discovery of a murine model of clinical PAH: Mission impossible?

Authors:  Zhiyu Dai; You-Yang Zhao
Journal:  Trends Cardiovasc Med       Date:  2016-12-15       Impact factor: 6.677

Review 4.  HIF and pulmonary vascular responses to hypoxia.

Authors:  Larissa A Shimoda; Steven S Laurie
Journal:  J Appl Physiol (1985)       Date:  2013-12-12

5.  Inherited predisposition to myeloproliferative neoplasms.

Authors:  Amy V Jones; Nicholas C P Cross
Journal:  Ther Adv Hematol       Date:  2013-08

6.  Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.

Authors:  Ying Pang; Garima Gupta; Abhishek Jha; Xupeng Yue; Herui Wang; Thanh-Truc Huynh; Aiguo Li; Liping Li; Eva Baker; Emily Chew; Richard A Feelders; Esther Korpershoek; Zhengping Zhuang; Chunzhang Yang; Karel Pacak
Journal:  Cancer       Date:  2019-01-15       Impact factor: 6.860

7.  Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

Authors:  Richard van Wijk; Scott Sutherland; Annet C W Van Wesel; Eric G Huizinga; Melanie J Percy; Marc Bierings; Frank S Lee
Journal:  Haematologica       Date:  2009-12-08       Impact factor: 9.941

8.  Differential regulation of pulmonary vascular cell growth by hypoxia-inducible transcription factor-1α and hypoxia-inducible transcription factor-2α.

Authors:  Aftab Ahmad; Shama Ahmad; Kenneth C Malcolm; Stacy M Miller; Tara Hendry-Hofer; Jerome B Schaack; Carl W White
Journal:  Am J Respir Cell Mol Biol       Date:  2013-07       Impact factor: 6.914

Review 9.  Erythropoietin.

Authors:  H Franklin Bunn
Journal:  Cold Spring Harb Perspect Med       Date:  2013-03-01       Impact factor: 6.915

Review 10.  HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond.

Authors:  Patrick H Maxwell; Kai-Uwe Eckardt
Journal:  Nat Rev Nephrol       Date:  2015-12-14       Impact factor: 28.314
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