Literature DB >> 21275967

Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation.

Elena Albiero, Marco Ruggeri, Stefania Fortuna, Martina Bernardi, Silvia Finotto, Domenico Madeo, Francesco Rodeghiero.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21275967     DOI： 10.1111/j.1365-2141.2010.08551.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


× No keyword cloud information.
  8 in total

1.  Clinical utility gene card for: familial polycythaemia vera.

Authors:  Kais Hussein; Galit Granot; Ofer Shpilberg; Hans Kreipe
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

2.  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

3.  Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.

Authors:  Elena Albiero; Marco Ruggeri; Stefania Fortuna; Silvia Finotto; Martina Bernardi; Domenico Madeo; Francesco Rodeghiero
Journal:  Haematologica       Date:  2011-08-09       Impact factor: 9.941

Review 4.  The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Authors:  Betty Gardie; Melanie J Percy; David Hoogewijs; Rasheduzzaman Chowdhury; Celeste Bento; Patrick R Arsenault; Stéphane Richard; Helena Almeida; Joanne Ewing; Frédéric Lambert; Mary Frances McMullin; Christopher J Schofield; Frank S Lee
Journal:  Hypoxia (Auckl)       Date:  2014-07-01

Review 5.  Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia.

Authors:  Julianty Frost; Mark Frost; Michael Batie; Hao Jiang; Sonia Rocha
Journal:  Cancers (Basel)       Date:  2021-01-19       Impact factor: 6.639

6.  Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.

Authors:  Aleša Kristan; Jernej Gašperšič; Tadeja Režen; Tanja Kunej; Rok Količ; Andrej Vuga; Martina Fink; Špela Žula; Saša Anžej Doma; Irena Preložnik Zupan; Tadej Pajič; Helena Podgornik; Nataša Debeljak
Journal:  J Clin Lab Anal       Date:  2021-02-03       Impact factor: 2.352

7.  MTAP-related increased erythroblast proliferation as a mechanism of polycythaemia vera.

Authors:  Chartsiam Tipgomut; Archrob Khuhapinant; Marieangela C Wilson; Saiphon Poldee; Kate J Heesom; Chanatip Metheetrairut; Orapan Sripichai; Chalermchai Mitrpant; Jan Frayne; Kongtana Trakarnsanga
Journal:  Sci Rep       Date:  2021-11-18       Impact factor: 4.379

8.  Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.

Authors:  Rachel Wilson; Nausheen Syed; Prabodh Shah
Journal:  Case Rep Hematol       Date:  2016-02-29
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.