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Genetic evidence for high-altitude adaptation in Tibet.
Simonson TS, Yang Y, Huff CD, Yun H, Qin G, Witherspoon DJ, Bai Z, Lorenzo FR, Xing J, Jorde LB, Prchal JT, Ge R. Simonson TS, et al. Among authors: lorenzo fr. Science. 2010 Jul 2;329(5987):72-5. doi: 10.1126/science.1189406. Epub 2010 May 13. Science. 2010. PMID: 20466884
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. 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.
Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.
Tashi T, Scott Reading N, Wuren T, Zhang X, Moore LG, Hu H, Tang F, Shestakova A, Lorenzo F, Burjanivova T, Koul P, Guchhait P, Wittwer CT, Julian CG, Shah B, Huff CD, Gordeuk VR, Prchal JT, Ge R. Tashi T, et al. J Mol Med (Berl). 2017 Jun;95(6):665-670. doi: 10.1007/s00109-017-1519-3. Epub 2017 Feb 23. J Mol Med (Berl). 2017. PMID: 28233034
Evolutionary history of Tibetans inferred from whole-genome sequencing.
Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD. Hu H, et al. Among authors: lorenzo fr. PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28448578 Free PMC article.
Molecular basis of two novel mutations found in type I methemoglobinemia.
Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Lorenzo FR 5th, et al. Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi: 10.1016/j.bcmd.2011.01.005. Epub 2011 Feb 24. Blood Cells Mol Dis. 2011. PMID: 21349748 Free PMC article.
29 results