Literature DB >> 31289208

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

Victor R Gordeuk1, Galina Y Miasnikova2, Adelina I Sergueeva3, Felipe R Lorenzo4,5, Xu Zhang6, Jihyun Song4, David W Stockton7, Josef T Prchal8.   

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Year:  2019        PMID： 31289208      PMCID： PMC7049338          DOI： 10.3324/haematol.2019.216267

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  16 in total

1.  Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Authors:  Sonny O Ang; Hua Chen; Kiichi Hirota; Victor R Gordeuk; Jaroslav Jelinek; Yongli Guan; Enli Liu; Adelina I Sergueeva; Galina Y Miasnikova; David Mole; Patrick H Maxwell; David W Stockton; Gregg L Semenza; Josef T Prchal
Journal:  Nat Genet       Date:  2002-11-04       Impact factor: 38.330

2.  Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

Authors:  Silverio Perrotta; Bruno Nobili; Marcella Ferraro; Carmela Migliaccio; Adriana Borriello; Valeria Cucciolla; Vincenzo Martinelli; Francesca Rossi; Francesca Punzo; Paola Cirillo; Giuseppe Parisi; Vincenzo Zappia; Bruno Rotoli; Fulvio Della Ragione
Journal:  Blood       Date:  2005-10-06       Impact factor: 22.113

3.  The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

Authors:  Galina Y Miasnikova; Adelina I Sergueeva; Mehdi Nouraie; Xiaomei Niu; Daniel J Okhotin; Lydia A Polyakova; Tomas Ganz; Josef T Prchal; Victor R Gordeuk
Journal:  Haematologica       Date:  2011-05-23       Impact factor: 9.941

4.  Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Authors:  Lucie Lanikova; Felipe Lorenzo; Chunzhang Yang; Hari Vankayalapati; Richard Drachtman; Vladimir Divoky; Josef T Prchal
Journal:  Blood       Date:  2013-03-28       Impact factor: 22.113

5.  Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

Authors:  Victor R Gordeuk; Adelina I Sergueeva; Galina Y Miasnikova; Daniel Okhotin; Yaroslav Voloshin; Peter L Choyke; John A Butman; Katerina Jedlickova; Josef T Prchal; Lydia A Polyakova
Journal:  Blood       Date:  2004-01-15       Impact factor: 22.113

6.  Transcriptional regulation of vascular endothelial cell responses to hypoxia by HIF-1.

Authors:  Dominador J Manalo; Ashley Rowan; Tera Lavoie; Lakshmi Natarajan; Brian D Kelly; Shui Q Ye; Joe G N Garcia; Gregg L Semenza
Journal:  Blood       Date:  2004-09-16       Impact factor: 22.113

7.  The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

Authors:  Nikica Ljubas Tomasic; Lucie Piterkova; Chad Huff; Ernest Bilic; Donghoon Yoon; Galina Y Miasnikova; Adelina I Sergueeva; Xiaomei Niu; Sergei Nekhai; Victor Gordeuk; Josef T Prchal
Journal:  Haematologica       Date:  2013-02-12       Impact factor: 9.941

8.  EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells.

Authors:  Benedicte Stavik; Sandra Espada; Xue Yan Cui; Nina Iversen; Sverre Holm; Marie-Christine Mowinkel; Bente Halvorsen; Grethe Skretting; Per Morten Sandset
Journal:  Biochim Biophys Acta       Date:  2016-01-26

9.  Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

Authors:  Ryan C Russell; Roxana I Sufan; Bing Zhou; Pardeep Heir; Severa Bunda; Stephanie S Sybingco; Samantha N Greer; Olga Roche; Samuel A Heathcote; Vinca W K Chow; Lukasz M Boba; Terri D Richmond; Michele M Hickey; Dwayne L Barber; David A Cheresh; M Celeste Simon; Meredith S Irwin; William Y Kim; Michael Ohh
Journal:  Nat Med       Date:  2011-06-19       Impact factor: 53.440

10.  HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.

Authors:  Daniel Tarade; Claire M Robinson; Jeffrey E Lee; Michael Ohh
Journal:  Nat Commun       Date:  2018-08-22       Impact factor: 14.919
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  5 in total

1.  Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease.

Authors:  Pengfei Sun; Nitin Kumar; Adrienne Tin; Jing Zhao; Michael R Brown; Zesen Lin; Min-Lee Yang; Qiwen Zheng; Jia Jia; Lawrence F Bielak; Bing Yu; Eric Boerwinkle; Kristina L Hunker; Josef Coresh; Y Eugene Chen; Yong Huo; Sharon L R Kardia; Rami Khoriaty; Xiang Zhou; Alanna C Morrison; Yan Zhang; Santhi K Ganesh
Journal:  Hypertension       Date:  2021-09-07       Impact factor: 10.190

Review 2.  Hematocrit, White Blood Cells, and Thrombotic Events in the Veteran Population With Polycythemia Vera.

Authors:  Tsewang Tashi
Journal:  Fed Pract       Date:  2022-03-16

3.  Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.

Authors:  Naseema Gangat; Jennifer L Oliveira; Tavanna R Porter; James D Hoyer; Aref Al-Kali; Mrinal M Patnaik; Animesh Pardanani; Ayalew Tefferi
Journal:  Haematologica       Date:  2022-05-01       Impact factor: 11.047

Review 4.  Hypoxia-inducible factors: cancer progression and clinical translation.

Authors:  Elizabeth E Wicks; Gregg L Semenza
Journal:  J Clin Invest       Date:  2022-06-01       Impact factor: 19.456

Review 5.  JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views.

Authors:  Naseema Gangat; Natasha Szuber; Animesh Pardanani; Ayalew Tefferi
Journal:  Leukemia       Date:  2021-05-21       Impact factor: 11.528
  5 in total

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