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High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele.
Jorgensen K, Song D, Weinstein J, Garcia OA, Pearson LN, Inclán M, Rivera-Chira M, León-Velarde F, Kiyamu M, Brutsaert TD, Bigham AW, Lee FS. Jorgensen K, et al. Among authors: bigham aw. Mol Biol Evol. 2023 Jul 5;40(7):msad162. doi: 10.1093/molbev/msad162. Mol Biol Evol. 2023. PMID: 37463421 Free PMC article.
Reply to Liu et al.: The Andean EGLN1 adaptive allele could be a loss of function variant that increases HIF1-α in skeletal muscle.
Brutsaert TD, Kiyamu M, Revollendo GE, Isherwood JL, Lee FS, Rivera-Ch M, Leon-Velarde F, Ghosh S, Bigham AW. Brutsaert TD, et al. Among authors: bigham aw. Proc Natl Acad Sci U S A. 2020 Nov 24;117(47):29286-29287. doi: 10.1073/pnas.2012199117. Epub 2020 Oct 27. Proc Natl Acad Sci U S A. 2020. PMID: 33109724 Free PMC article. No abstract available.
Tibetan PHD2, an allele with loss-of-function properties.
Song D, Navalsky BE, Guan W, Ingersoll C, Wang T, Loro E, Eeles L, Matchett KB, Percy MJ, Walsby-Tickle J, McCullagh JSO, Medina RJ, Khurana TS, Bigham AW, Lappin TR, Lee FS. Song D, et al. Among authors: bigham aw. Proc Natl Acad Sci U S A. 2020 Jun 2;117(22):12230-12238. doi: 10.1073/pnas.1920546117. Epub 2020 May 15. Proc Natl Acad Sci U S A. 2020. PMID: 32414920 Free PMC article.
45 results