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Article

New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude.

Molecular biology and evolution - 1 Dec 2017

Stobdan Tsering, Akbari Ali, Azad Priti, Zhou Dan, Poulsen Orit, Appenzeller Otto, Gonzales Gustavo F, Telenti Amalio, Wong Emily H M, Saini Shubham, Kirkness Ewen F, Venter J Craig, Bafna Vineet, Haddad Gabriel G

Abstract excerpt

Human high-altitude (HA) adaptation or mal-adaptation is explored to understand the physiology, pathophysiology, and molecular mechanisms that underlie long-term exposure to hypoxia. Here, we report the results of an analysis of the largest whole-genome-sequencing of Chronic Mountain Sickness (CMS) and nonCMS individuals, identified candidate genes and functionally validated these candidates in a genetic model...

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Topics

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Share to Acclimatization
Share to Altitude

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Altitude Sickness

Share to Chronic Disease

Share to Hypoxia

Share to Positive Regulatory Domain I-Binding Factor 1

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 29029226
DOI: 10.1093/molbev/msx239
PMCID: PMC5850797

Genes

COPS5
PRDM1
SENP1
SGK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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