EGLN1 Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Vivi Li	+ 600 word(s)	600	2020-12-15 07:51:22

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Li, V. EGLN1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5310 (accessed on 21 September 2026).

Li V. EGLN1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5310. Accessed September 21, 2026.

Li, Vivi. "EGLN1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5310 (accessed September 21, 2026).

Li, V. (2020, December 24). EGLN1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5310

Li, Vivi. "EGLN1 Gene." Encyclopedia. Web. 24 December, 2020.

EGLN1 Gene

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/egln1

Egl-9 family hypoxia inducible factor 1

genes

References

Al-Sheikh M, Moradkhani K, Lopez M, Wajcman H, Préhu C. Disturbance in theHIF-1alpha pathway associated with erythrocytosis: further evidences brought byframeshift and nonsense mutations in the prolyl hydroxylase domain protein 2(PHD2) gene. Blood Cells Mol Dis. 2008 Mar-Apr;40(2):160-5.
Albiero E, Ruggeri M, Fortuna S, Finotto S, Bernardi M, Madeo D, Rodeghiero F.Isolated erythrocytosis: study of 67 patients and identification of three novelgerm-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.Haematologica. 2012 Jan;97(1):123-7. doi: 10.3324/haematol.2010.039545.
Ladroue C, Carcenac R, Leporrier M, Gad S, Le Hello C, Galateau-Salle F,Feunteun J, Pouysségur J, Richard S, Gardie B. PHD2 mutation and congenitalerythrocytosis with paraganglioma. N Engl J Med. 2008 Dec 18;359(25):2685-92.doi: 10.1056/NEJMoa0806277.
Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M,Gimenez-Roqueplo AP, Leporrier M, Casadevall N, Hermine O, Kiladjian JJ, BaruchelA, Fakhoury F, Bressac-de Paillerets B, Feunteun J, Mazure N, Pouysségur J,Wenger RH, Richard S, Gardie B. Distinct deregulation of the hypoxia induciblefactor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644.
Lee FS, Percy MJ. The HIF pathway and erythrocytosis. Annu Rev Pathol.2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321. Review.
McMullin MF. HIF pathway mutations and erythrocytosis. Expert Rev Hematol.2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68. Review.
Percy MJ, Furlow PW, Beer PA, Lappin TR, McMullin MF, Lee FS. A novelerythrocytosis-associated PHD2 mutation suggests the location of a HIF bindinggroove. Blood. 2007 Sep 15;110(6):2193-6.
Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial andacquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84(1):46-54.doi: 10.1002/ajh.21313. Review.
Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF,Lee FS. A family with erythrocytosis establishes a role for prolyl hydroxylasedomain protein 2 in oxygen homeostasis. Proc Natl Acad Sci U S A. 2006 Jan17;103(3):654-9.
Simonson TS, McClain DA, Jorde LB, Prchal JT. Genetic determinants of Tibetan high-altitude adaptation. Hum Genet. 2012 Apr;131(4):527-33. doi:10.1007/s00439-011-1109-3.
Simonson TS, Yang Y, Huff CD, Yun H, Qin G, Witherspoon DJ, Bai Z, Lorenzo FR,Xing J, Jorde LB, Prchal JT, Ge R. Genetic evidence for high-altitude adaptation in Tibet. Science. 2010 Jul 2;329(5987):72-5. doi: 10.1126/science.1189406.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li

View Times: 783

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References