Literature DB >> 22367913

Two new mutations in the HIF2A gene associated with erythrocytosis.

Melanie J Percy, Yu Jin Chung, Claire Harrison, Jane Mercieca, A Victor Hoffbrand, Carla L Dinardo, Paulo C J L Santos, Guilherme H H Fonseca, Sandra F M Gualandro, Alexandre C Pereira, Terence R J Lappin, Mary Frances McMullin, Frank S Lee.   

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Year:  2012        PMID： 22367913      PMCID： PMC3399664          DOI： 10.1002/ajh.23123

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  25 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.  Genetic evidence for high-altitude adaptation in Tibet.

Authors:  Tatum S Simonson; Yingzhong Yang; Chad D Huff; Haixia Yun; Ga Qin; David J Witherspoon; Zhenzhong Bai; Felipe R Lorenzo; Jinchuan Xing; Lynn B Jorde; Josef T Prchal; RiLi Ge
Journal:  Science       Date:  2010-05-13       Impact factor: 47.728

Review 3.  HIF pathway mutations and erythrocytosis.

Authors:  Mary Frances McMullin
Journal:  Expert Rev Hematol       Date:  2010-02       Impact factor: 2.929

4.  Sequencing of 50 human exomes reveals adaptation to high altitude.

Authors:  Xin Yi; Yu Liang; Emilia Huerta-Sanchez; Xin Jin; Zha Xi Ping Cuo; John E Pool; Xun Xu; Hui Jiang; Nicolas Vinckenbosch; Thorfinn Sand Korneliussen; Hancheng Zheng; Tao Liu; Weiming He; Kui Li; Ruibang Luo; Xifang Nie; Honglong Wu; Meiru Zhao; Hongzhi Cao; Jing Zou; Ying Shan; Shuzheng Li; Qi Yang; Peixiang Ni; Geng Tian; Junming Xu; Xiao Liu; Tao Jiang; Renhua Wu; Guangyu Zhou; Meifang Tang; Junjie Qin; Tong Wang; Shuijian Feng; Guohong Li; Jiangbai Luosang; Wei Wang; Fang Chen; Yading Wang; Xiaoguang Zheng; Zhuo Li; Zhuoma Bianba; Ge Yang; Xinping Wang; Shuhui Tang; Guoyi Gao; Yong Chen; Zhen Luo; Lamu Gusang; Zheng Cao; Qinghui Zhang; Weihan Ouyang; Xiaoli Ren; Huiqing Liang; Huisong Zheng; Yebo Huang; Jingxiang Li; Lars Bolund; Karsten Kristiansen; Yingrui Li; Yong Zhang; Xiuqing Zhang; Ruiqiang Li; Songgang Li; Huanming Yang; Rasmus Nielsen; Jun Wang; Jian Wang
Journal:  Science       Date:  2010-07-02       Impact factor: 47.728

Review 5.  Regulated oxygen sensing by protein hydroxylation in renal erythropoietin-producing cells.

Authors:  Roland H Wenger; David Hoogewijs
Journal:  Am J Physiol Renal Physiol       Date:  2010-03-10

Review 6.  Oxygen homeostasis.

Authors:  Gregg L Semenza
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2010 May-Jun

Review 7.  The HIF pathway and erythrocytosis.

Authors:  Frank S Lee; Melanie J Percy
Journal:  Annu Rev Pathol       Date:  2011       Impact factor: 23.472

8.  Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

Authors:  Paul W Furlow; Melanie J Percy; Scott Sutherland; Charlene Bierl; Mary Frances McMullin; Stephen R Master; Terence R J Lappin; Frank S Lee
Journal:  J Biol Chem       Date:  2009-02-10       Impact factor: 5.157

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

Authors:  Daniel P Gale; Sarah K Harten; Cecil D L Reid; Edward G D Tuddenham; Patrick H Maxwell
Journal:  Blood       Date:  2008-08-01       Impact factor: 22.113

Review 10.  Hypoxia-inducible factors and the response to hypoxic stress.

Authors:  Amar J Majmundar; Waihay J Wong; M Celeste Simon
Journal:  Mol Cell       Date:  2010-10-22       Impact factor: 17.970
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  16 in total

Review 1.  New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness.

Authors:  Francisco C Villafuerte
Journal:  J Appl Physiol (1985)       Date:  2015-08-13

Review 2.  Regulation of erythropoiesis by hypoxia-inducible factors.

Authors:  Volker H Haase
Journal:  Blood Rev       Date:  2013-01-03       Impact factor: 8.250

3.  A genetic mechanism for Tibetan high-altitude adaptation.

Authors:  Felipe R Lorenzo; Chad Huff; Mikko Myllymäki; Benjamin Olenchock; Sabina Swierczek; Tsewang Tashi; Victor Gordeuk; Tana Wuren; Ge Ri-Li; Donald A McClain; Tahsin M Khan; Parvaiz A Koul; Prasenjit Guchhait; Mohamed E Salama; Jinchuan Xing; Gregg L Semenza; Ella Liberzon; Andrew Wilson; Tatum S Simonson; Lynn B Jorde; William G Kaelin; Peppi Koivunen; Josef T Prchal
Journal:  Nat Genet       Date:  2014-08-17       Impact factor: 38.330

4.  Hypoxia Signaling Cascade for Erythropoietin Production in Hepatocytes.

Authors:  Yutaka Tojo; Hiroki Sekine; Ikuo Hirano; Xiaoqing Pan; Tomokazu Souma; Tadayuki Tsujita; Shin-ichi Kawaguchi; Norihiko Takeda; Kotaro Takeda; Guo-Hua Fong; Takashi Dan; Masakazu Ichinose; Toshio Miyata; Masayuki Yamamoto; Norio Suzuki
Journal:  Mol Cell Biol       Date:  2015-05-26       Impact factor: 4.272

Review 5.  Erythropoietin.

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

6.  Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

Authors:  Silverio Perrotta; Daniel P Stiehl; Francesca Punzo; Saverio Scianguetta; Adriana Borriello; Debora Bencivenga; Maddalena Casale; Bruno Nobili; Silvia Fasoli; Adriana Balduzzi; Lilla Cro; Katarzyna J Nytko; Roland H Wenger; Fulvio Della Ragione
Journal:  Haematologica       Date:  2013-05-28       Impact factor: 9.941

7.  The Endoplasmic Reticulum Cargo Receptor SURF4 Facilitates Efficient Erythropoietin Secretion.

Authors:  Zesen Lin; Richard King; Vi Tang; Greggory Myers; Ginette Balbin-Cuesta; Ann Friedman; Beth McGee; Karl Desch; Ayse Bilge Ozel; David Siemieniak; Pavan Reddy; Brian Emmer; Rami Khoriaty
Journal:  Mol Cell Biol       Date:  2020-11-06       Impact factor: 4.272

8.  Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

Authors:  Roland Därr; Joan Nambuba; Jaydira Del Rivero; Ingo Janssen; Maria Merino; Milena Todorovic; Bela Balint; Ivana Jochmanova; Josef T Prchal; Ronald M Lechan; Arthur S Tischler; Vera Popovic; Dragana Miljic; Karen T Adams; F Ryan Prall; Alexander Ling; Meredith R Golomb; Michael Ferguson; Naris Nilubol; Clara C Chen; Emily Chew; David Taïeb; Constantine A Stratakis; Tito Fojo; Chunzhang Yang; Electron Kebebew; Zhengping Zhuang; Karel Pacak
Journal:  Endocr Relat Cancer       Date:  2016-09-27       Impact factor: 5.678

9.  Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.

Authors:  Qiulin Tan; Heddy Kerestes; Melanie J Percy; Ralph Pietrofesa; Li Chen; Tejvir S Khurana; Melpo Christofidou-Solomidou; Terence R J Lappin; Frank S Lee
Journal:  J Biol Chem       Date:  2013-05-02       Impact factor: 5.157

Review 10.  Oxygen-sensing mechanisms in development and tissue repair.

Authors:  Yida Jiang; Li-Juan Duan; Guo-Hua Fong
Journal:  Development       Date:  2021-12-07       Impact factor: 6.868
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