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Article

High-impact Genetic Variants in EGLN1, EPAS1, and Other Genes Identified in Mountaineers by Exome Sequencing.

Frontiers in bioscience (Scholar edition) - 12 Feb 2026

Maksiutenko Evgeniia M, Merkureva Valeriia А, Barbitoff Yury A, Aseev Mikhail V, Lazareva Tatyana E, Glotov Andrey S, Glotov Oleg S

Abstract excerpt

BACKGROUND: Investigating the genetic basis of adaptation to environmental stresses, such as hypoxia, can enhance our understanding of human biology and resilience. High-altitude adaptation provides a valuable model for studying the genetic mechanisms of the hypoxic response. Indeed, most known loci associated with hypoxic adaptation have been identified in indigenous mountain populations; however, research on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Basic Helix-Loop-Helix Proteins

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Share to RTEL1 gene

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Share to Hypoxia-Inducible Factor-Proline Dioxygenases

Source

Identifiers

PMID: 41914177
DOI: 10.31083/FBS38966

Genes

EGLN1
EPAS1
COL6A1
F5
GP1BA
RTEL1
TCAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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High-impact Genetic Variants in EGLN1, EPAS1, and Other Genes Identified in Mountaineers by Exome Sequencing.PMID 41914177Read ↗

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