Publications:

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Molecular Mechanisms of High-Altitude Acclimatization.

International Journal Of Molecular Sciences

Mallet, Robert T RT; Burtscher, Johannes J; Pialoux, Vincent V; Pasha, Qadar Q; Ahmad, Yasmin Y; Millet, Grégoire P GP; Burtscher, Martin M

Publication Date: 2023-01-15

Variant appearance in text: rs2486729

PubMed Link: 36675214

Variant Present in the following documents:

• Main text
• ijms-24-01698.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2486729

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Vascular homeostasis at high-altitude: role of genetic variants and transcription factors.

Pulmonary Circulation

Chanana, Neha N; Palmo, Tsering T; Newman, John H JH; Pasha, M A Qadar MAQ

Publication Date: 2020

Variant appearance in text: rs2486729

PubMed Link: 33282179

Variant Present in the following documents:

• Main text

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Association of EPAS1 and PPARA Gene Polymorphisms with High-Altitude Headache in Chinese Han Population.

Biomed Research International

Shen, Yang Y; Zhang, Jihang J; Yang, Jie J; Liu, Chuan C; Bian, Shizhu S; Zhang, Chen C; Yu, Jie J; Gao, Xubin X; Huang, Lan L

Publication Date: 2020

Variant appearance in text: rs2486729

PubMed Link: 32185192

Variant Present in the following documents:

• Main text

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Neural network correlates of high-altitude adaptive genetic variants in Tibetans: A pilot, exploratory study.

Human Brain Mapping

Guo, Zhiyue Z; Fan, Cunxiu C; Li, Ting T; Gesang, Luobu L; Yin, Wu W; Wang, Ningkai N; Weng, Xuchu X; Gong, Qiyong Q; Zhang, Jiaxing J; Wang, Jinhui J

Publication Date: 2020-06-15

Variant appearance in text: rs2486729

PubMed Link: 32128935

Variant Present in the following documents:

• Main text
• HBM-41-2406.pdf

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PPARA genetic variants increase the risk for cardiac pumping function reductions following acute high-altitude exposure: A self-controlled study.

Molecular Genetics & Genomic Medicine

Yang, Jie J; Liu, Chuan C; Jihang, Zhang Z; Yu, Jie J; Dai, Limeng L; Ding, Xiaohan X; Qiu, Youzhu Y; Yu, Sanjiu S; Yang, Yuanqi Y; Wu, Yuzhang Y; Huang, Lan L

Publication Date: 2019-10

Variant appearance in text: rs2486729

PubMed Link: 31407515

Variant Present in the following documents:

• Main text

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Altered DNA methylation associated with a translocation linked to major mental illness.

Npj Schizophrenia

McCartney, Daniel L DL; Walker, Rosie M RM; Morris, Stewart W SW; Anderson, Susan M SM; Duff, Barbara J BJ; Marioni, Riccardo E RE; Millar, J Kirsty JK; McCarthy, Shane E SE; Ryan, Niamh M NM; Lawrie, Stephen M SM; Watson, Andrew R AR; Blackwood, Douglas H R DHR; Thomson, Pippa A PA; McIntosh, Andrew M AM; McCombie, W Richard WR; Porteous, David J DJ; Evans, Kathryn L KL

Publication Date: 2018-03-19

Variant appearance in text: rs2486729

PubMed Link: 29555928

Variant Present in the following documents:

• Main text
• 41537_2018_Article_47.pdf

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Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.

International Journal Of Molecular Sciences

Zhang, Enhao E; Zhang, Jihang J; Jin, Jun J; Qin, Jun J; Li, Huijie H; Huang, Lan L

Publication Date: 2014-11-26

Variant appearance in text: rs2486729

PubMed Link: 25431923

Variant Present in the following documents:

• Main text
• ijms-15-21777.pdf

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Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data.

Plos Genetics

Bigham, Abigail A; Bauchet, Marc M; Pinto, Dalila D; Mao, Xianyun X; Akey, Joshua M JM; Mei, Rui R; Scherer, Stephen W SW; Julian, Colleen G CG; Wilson, Megan J MJ; López Herráez, David D; Brutsaert, Tom T; Parra, Esteban J EJ; Moore, Lorna G LG; Shriver, Mark D MD

Publication Date: 2010-09-09

Variant appearance in text: rs2486729

PubMed Link: 20838600

Variant Present in the following documents:

• Main text
• pgen.1001116.pdf

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