Hypoxia-inducible factor signaling in pulmonary hypertension

SS Pullamsetti, A Mamazhakypov, N Weissmann… - The Journal of clinical …, 2020‏ - jci.org
Pulmonary hypertension (PH) is characterized by pulmonary artery remodeling that can
subsequently culminate in right heart failure and premature death. Emerging evidence …

Human high-altitude adaptation: forward genetics meets the HIF pathway

AW Bigham, FS Lee - Genes & development, 2014‏ - genesdev.cshlp.org
Humans have adapted to the chronic hypoxia of high altitude in several locations, and
recent genome-wide studies have indicated a genetic basis. In some populations, genetic …

Phase I dose-escalation trial of PT2385, a first-in-class hypoxia-inducible factor-2α antagonist in patients with previously treated advanced clear cell renal cell …

KD Courtney, JR Infante, ET Lam, RA Figlin… - Journal of Clinical …, 2018‏ - ascopubs.org
Purpose The von Hippel-Lindau tumor suppressor is inactivated in the majority of clear cell
renal cell carcinomas (ccRCCs), leading to inappropriate stabilization of hypoxia-inducible …

High-altitude adaptation: mechanistic insights from integrated genomics and physiology

JF Storz - Molecular biology and evolution, 2021‏ - academic.oup.com
Population genomic analyses of high-altitude humans and other vertebrates have identified
numerous candidate genes for hypoxia adaptation, and the physiological pathways …

Measuring high-altitude adaptation

LG Moore - Journal of applied physiology, 2017‏ - journals.physiology.org
High altitudes (> 8,000 ft or 2,500 m) provide an experiment of nature for measuring
adaptation and the physiological processes involved. Studies conducted over the past~ 25 …

Pulmonary hypertension in acute and chronic high altitude maladaptation disorders

A Sydykov, A Mamazhakypov, A Maripov… - International journal of …, 2021‏ - mdpi.com
Alveolar hypoxia is the most prominent feature of high altitude environment with well-known
consequences for the cardio-pulmonary system, including development of pulmonary …

The increase in hemoglobin concentration with altitude varies among human populations

M Gassmann, H Mairbäurl, L Livshits… - Annals of the New …, 2019‏ - Wiley Online Library
Decreased oxygen availability at high altitude requires physiological adjustments allowing
for adequate tissue oxygenation. One such mechanism is a slow increase in the hemoglobin …

Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc

C Jeong, AT Ozga, DB Witonsky, H Malmström… - Proceedings of the …, 2016‏ - pnas.org
The high-altitude transverse valleys [> 3,000 m above sea level (masl)] of the Himalayan arc
from Arunachal Pradesh to Ladahk were among the last habitable places permanently …

King of the mountains: Tibetan and Sherpa physiological adaptations for life at high altitude

ET Gilbert-Kawai, JS Milledge, MPW Grocott… - …, 2014‏ - journals.physiology.org
Anecdotal evidence surrounding Tibetans' and Sherpas' exceptional tolerance to hypobaric
hypoxia has been recorded since the beginning of high-altitude exploration. These …

Altitude adaptation: a glimpse through various lenses

TS Simonson - High altitude medicine & biology, 2015‏ - liebertpub.com
Abstract Simonson, Tatum S. Altitude adaptation: A glimpse through various lenses. High Alt
Med Biol 16: 125–137, 2015.—Recent availability of genome-wide data from highland …