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Reply to Liu et al.: The Andean adaptive allele could be a loss of function variant that increases HIF1-α in skeletal muscle.

作者信息

Brutsaert Tom D, Kiyamu Melissa, Revollendo Gianpietro Elias, Isherwood Jenna L, Lee Frank S, Rivera-Ch Maria, Leon-Velarde Fabiola, Ghosh Sudipta, Bigham Abigail W

机构信息

Department of Exercise Science, Syracuse University, Syracuse, NY 13244;

Laboratorio de Transporte de Oxigeno, Universidad Peruana Cayetano Heredia, Lima 15102, Peru.

出版信息

Proc Natl Acad Sci U S A. 2020 Nov 24;117(47):29286-29287. doi: 10.1073/pnas.2012199117. Epub 2020 Oct 27.

Abstract
摘要

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本文引用的文献

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rs1769793 variant reduces expression in skeletal muscle and hippocampus and contributes to high aerobic capacity in hypoxia.
Proc Natl Acad Sci U S A. 2020 Nov 24;117(47):29283-29285. doi: 10.1073/pnas.2010073117. Epub 2020 Oct 27.
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Low haemoglobin concentration in Tibetan males is associated with greater high-altitude exercise capacity.
J Physiol. 2015 Jul 15;593(14):3207-18. doi: 10.1113/JP270518. Epub 2015 Jun 25.
4
A genetic mechanism for Tibetan high-altitude adaptation.
Nat Genet. 2014 Sep;46(9):951-6. doi: 10.1038/ng.3067. Epub 2014 Aug 17.
5
Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing.
J Biol Chem. 2014 May 23;289(21):14656-65. doi: 10.1074/jbc.M113.541227. Epub 2014 Apr 7.
6
Nitric oxide and cardiopulmonary hemodynamics in Tibetan highlanders.
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Pulmonary gas exchange and acid-base state at 5,260 m in high-altitude Bolivians and acclimatized lowlanders.
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