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A genetic mechanism for Tibetan high-altitude adaptation.
Lorenzo FR, Huff C, Myllymäki M, Olenchock B, Swierczek S, Tashi T, Gordeuk V, Wuren T, Ri-Li G, McClain DA, Khan TM, Koul PA, Guchhait P, Salama ME, Xing J, Semenza GL, Liberzon E, Wilson A, Simonson TS, Jorde LB, Kaelin WG Jr, Koivunen P, Prchal JT. Lorenzo FR, et al. Among authors: semenza gl. Nat Genet. 2014 Sep;46(9):951-6. doi: 10.1038/ng.3067. Epub 2014 Aug 17. Nat Genet. 2014. PMID: 25129147 Free PMC article.
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT. Ang SO, et al. Among authors: semenza gl. Nat Genet. 2002 Dec;32(4):614-21. doi: 10.1038/ng1019. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415268
Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha.
Yoon D, Okhotin DV, Kim B, Okhotina Y, Okhotin DJ, Miasnikova GY, Sergueeva AI, Polyakova LA, Maslow A, Lee Y, Semenza GL, Prchal JT, Gordeuk VR. Yoon D, et al. Among authors: semenza gl. J Mol Med (Berl). 2010 May;88(5):523-30. doi: 10.1007/s00109-010-0599-0. Epub 2010 Feb 8. J Mol Med (Berl). 2010. PMID: 20140661 Free PMC article.
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL. Semenza GL. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:183-204. doi: 10.1146/annurev-genom-111119-073356. Epub 2020 Apr 7. Annu Rev Genomics Hum Genet. 2020. PMID: 32255719 Review.
Heritable disorders of oxygen sensing.
Semenza GL. Semenza GL. Am J Med Genet A. 2021 Aug;185(8):2576-2581. doi: 10.1002/ajmg.a.62250. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973706 Review.
Familial polycythemia.
Prchal JT, Semenza GL, Prchal J, Sokol L. Prchal JT, et al. Among authors: semenza gl. Science. 1995 Jun 30;268(5219):1831-2. doi: 10.1126/science.7604250. Science. 1995. PMID: 7604250 No abstract available.
609 results