{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T01:22:11Z","timestamp":1788916931136,"version":"build-2803163510"},"reference-count":75,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T00:00:00Z","timestamp":1749686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG004798"],"award-info":[{"award-number":["U01HG004798"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG004801"],"award-info":[{"award-number":["U01HG004801"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG004802"],"award-info":[{"award-number":["U01HG004802"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG004803"],"award-info":[{"award-number":["U01HG004803"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01 HG004790"],"award-info":[{"award-number":["U01 HG004790"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01-HL111024"],"award-info":[{"award-number":["R01-HL111024"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["N01 HC 25195"],"award-info":[{"award-number":["N01 HC 25195"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007319","name":"Albert Einstein College of Medicine, Yeshiva University","doi-asserted-by":"publisher","award":["N01-HC65235"],"award-info":[{"award-number":["N01-HC65235"]}],"id":[{"id":"10.13039\/100007319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006686","name":"University of Miami","doi-asserted-by":"publisher","award":["N01-HC65234"],"award-info":[{"award-number":["N01-HC65234"]}],"id":[{"id":"10.13039\/100006686","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007099","name":"San Diego State University","doi-asserted-by":"publisher","award":["N01-HC65237"],"award-info":[{"award-number":["N01-HC65237"]}],"id":[{"id":"10.13039\/100007099","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000063","name":"Office of Dietary Supplements","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000063","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007161","name":"Boston University","doi-asserted-by":"publisher","award":["N02-HL-64278"],"award-info":[{"award-number":["N02-HL-64278"]}],"id":[{"id":"10.13039\/100007161","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007161","name":"Boston University","doi-asserted-by":"publisher","award":["HHSN268201500001I"],"award-info":[{"award-number":["HHSN268201500001I"]}],"id":[{"id":"10.13039\/100007161","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007161","name":"Boston University","doi-asserted-by":"publisher","award":["N01-HC-25195"],"award-info":[{"award-number":["N01-HC-25195"]}],"id":[{"id":"10.13039\/100007161","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007161","name":"Boston University","doi-asserted-by":"publisher","award":["75N92019D00031"],"award-info":[{"award-number":["75N92019D00031"]}],"id":[{"id":"10.13039\/100007161","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007890","name":"University of North Carolina at Chapel Hill","doi-asserted-by":"publisher","award":["N01-HC65233"],"award-info":[{"award-number":["N01-HC65233"]}],"id":[{"id":"10.13039\/100007890","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005302","name":"University of Illinois at Urbana-Champaign","doi-asserted-by":"publisher","award":["N01-HC65236"],"award-info":[{"award-number":["N01-HC65236"]}],"id":[{"id":"10.13039\/100005302","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["iScience"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.isci.2025.112911","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T12:03:25Z","timestamp":1750075405000},"page":"112911","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes"],"prefix":"10.1016","volume":"28","author":[{"given":"Elijah S.","family":"Lawrence","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7342-7000","authenticated-orcid":false,"given":"Wanjun","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell C.","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santiago","family":"Fassardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Anza-Ramirez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteban A.","family":"Moya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica C.","family":"Heinrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy E.","family":"Orr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven Y.","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Sanchez-Azofra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy M.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamala N.","family":"DeYoung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo","family":"Vizcardo-Galindo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose-Luis","family":"Macarlupu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00f3mulo","family":"Figueroa-Muj\u00edca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Bermudez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noemi","family":"Corante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianpiero L.","family":"Cavalleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Gaio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Mark","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank L.","family":"Powell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atul","family":"Malhotra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rany M.","family":"Salem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco C.","family":"Villafuerte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatum S.","family":"Simonson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.isci.2025.112911_bib1","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1152\/physrev.00012.2009","article-title":"The ventilatory response to hypoxia in mammals: mechanisms, measurement, and analysis","volume":"90","author":"Teppema","year":"2010","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.isci.2025.112911_bib2","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1152\/physrev.00039.2019","article-title":"Carotid body chemoreceptors: physiology, pathology, and implications for health and disease","volume":"101","author":"Iturriaga","year":"2021","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.isci.2025.112911_bib3","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1152\/physiol.00022.2015","article-title":"Oxygen sensing and homeostasis","volume":"30","author":"Prabhakar","year":"2015","journal-title":"Physiology"},{"key":"10.1016\/j.isci.2025.112911_bib4","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1002\/j.2040-4603.2016.tb00707.x","article-title":"Time domains of the hypoxic ventilatory response and their molecular basis","volume":"6","author":"Pamenter","year":"2016","journal-title":"Compr. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib5","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/(SICI)1096-8644(199712)104:4<427::AID-AJPA1>3.0.CO;2-P","article-title":"Ventilation and hypoxic ventilatory response of Tibetan and Aymara high altitude natives","volume":"104","author":"Beall","year":"1997","journal-title":"Am. J. Phys. Anthropol."},{"key":"10.1016\/j.isci.2025.112911_bib6","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1152\/japplphysiol.00858.2002","article-title":"Selected contribution: Peripheral chemoreflex function in high-altitude natives and patients with chronic mountain sickness","volume":"94","author":"L\u00e9on-Velarde","year":"2003","journal-title":"J. Appl. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib7","doi-asserted-by":"crossref","first-page":"437","DOI":"10.3389\/fphys.2020.00437","article-title":"Relationships Between Chemoreflex Responses, Sleep Quality, and Hematocrit in Andean Men and Women","volume":"11","author":"Heinrich","year":"2020","journal-title":"Front. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib8","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S1569-9048(02)00167-2","article-title":"Impaired oxygenation during sleep at high altitude in Sherpa","volume":"133","author":"Arai","year":"2002","journal-title":"Respir. Physiol. Neurobiol."},{"key":"10.1016\/j.isci.2025.112911_bib9","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01705-2016","article-title":"Cardiometabolic correlates of sleep disordered breathing in Andean highlanders","volume":"49","author":"Pham","year":"2017","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.isci.2025.112911_bib10","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1183\/09031936.03.00000703","article-title":"Sleep-related hypoxaemia and excessive erythrocytosis in Andean high-altitude natives","volume":"23","author":"Spicuzza","year":"2004","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.isci.2025.112911_bib11","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.resp.2013.01.016","article-title":"Sleep-disordered breathing and oxidative stress in preclinical chronic mountain sickness (excessive erythrocytosis)","volume":"186","author":"Julian","year":"2013","journal-title":"Respir. Physiol. Neurobiol."},{"key":"10.1016\/j.isci.2025.112911_bib12","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1152\/japplphysiol.00448.2015","article-title":"Sleep at high altitude: guesses and facts","volume":"119","author":"Bloch","year":"2015","journal-title":"J. Appl. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.resp.2013.05.020","article-title":"Breathing and sleep at high altitude","volume":"188","author":"Ainslie","year":"2013","journal-title":"Respir. Physiol. Neurobiol."},{"key":"10.1016\/j.isci.2025.112911_bib14","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1089\/ham.2017.0123","article-title":"Excessive erythrocytosis and cardiovascular risk in Andean highlanders","volume":"19","author":"Corante","year":"2018","journal-title":"High Alt. Med. Biol."},{"key":"10.1016\/j.isci.2025.112911_bib15","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2022.885295","article-title":"Time domains of hypoxia responses and -omics insights","volume":"13","author":"Yu","year":"2022","journal-title":"Front. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib16","doi-asserted-by":"crossref","DOI":"10.1152\/physiol.00029.2021","article-title":"High-altitude erythrocytosis: Mechanisms of adaptive and maladaptive responses","volume":"37","author":"Villafuerte","year":"2022","journal-title":"Physiology"},{"key":"10.1016\/j.isci.2025.112911_bib17","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/nature06250","article-title":"Genome-wide detection and characterization of positive selection in human populations","volume":"449","author":"Sabeti","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.isci.2025.112911_bib18","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.cell.2013.01.035","article-title":"Identifying recent adaptations in large-scale genomic data","volume":"152","author":"Grossman","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.isci.2025.112911_bib19","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1089\/ham.2015.0033","article-title":"Altitude adaptation: A glimpse through various lenses","volume":"16","author":"Simonson","year":"2015","journal-title":"High Alt. Med. Biol."},{"key":"10.1016\/j.isci.2025.112911_bib20","doi-asserted-by":"crossref","first-page":"150","DOI":"10.3390\/genes10020150","article-title":"Human genetic adaptation to high altitude: Evidence from the Andes","volume":"10","author":"Julian","year":"2019","journal-title":"Genes"},{"key":"10.1016\/j.isci.2025.112911_bib21","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001116","article-title":"Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data","volume":"6","author":"Bigham","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.isci.2025.112911_bib22","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1126\/science.1189406","article-title":"Genetic evidence for high-altitude adaptation in Tibet","volume":"329","author":"Simonson","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.isci.2025.112911_bib23","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1152\/physiolgenomics.00063.2014","article-title":"Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude","volume":"46","author":"Bigham","year":"2014","journal-title":"Physiol. Genomics"},{"key":"10.1016\/j.isci.2025.112911_bib24","doi-asserted-by":"crossref","first-page":"H778","DOI":"10.1152\/ajpheart.00193.2024","article-title":"Maternal AMPK pathway activation with uterine artery blood flow and fetal growth maintenance during hypoxia","volume":"327","author":"Moore","year":"2024","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib25","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1113\/JP270995","article-title":"Hypoxia, AMPK activation and uterine artery vasoreactivity","volume":"594","author":"Skeffington","year":"2016","journal-title":"J. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib26","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.placenta.2021.01.010","article-title":"High altitude regulates the expression of AMPK pathways in human placenta","volume":"104","author":"Lorca","year":"2021","journal-title":"Placenta"},{"key":"10.1016\/j.isci.2025.112911_bib27","doi-asserted-by":"crossref","first-page":"H203","DOI":"10.1152\/ajpheart.00644.2019","article-title":"AMPK activation in pregnant human myometrial arteries from high-altitude and intrauterine growth-restricted pregnancies","volume":"319","author":"Lorca","year":"2020","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib28","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.molcel.2017.05.032","article-title":"AMPK: Mechanisms of cellular energy sensing and restoration of metabolic balance","volume":"66","author":"Garcia","year":"2017","journal-title":"Mol. Cell"},{"key":"10.1016\/j.isci.2025.112911_bib29","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/s41580-022-00547-x","article-title":"New insights into activation and function of the AMPK","volume":"24","author":"Steinberg","year":"2023","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.isci.2025.112911_bib30","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/nrm3311","article-title":"AMPK: a nutrient and energy sensor that maintains energy homeostasis","volume":"13","author":"Hardie","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.isci.2025.112911_bib31","doi-asserted-by":"crossref","first-page":"3518","DOI":"10.3390\/ijms21103518","article-title":"AMPK and the need to breathe and feed: What\u2019s the matter with oxygen?","volume":"21","author":"Evans","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.isci.2025.112911_bib32","doi-asserted-by":"crossref","first-page":"2428","DOI":"10.3390\/ijms21072428","article-title":"Activation of AMPK under hypoxia: Many roads leading to Rome","volume":"21","author":"Dengler","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.isci.2025.112911_bib33","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1164\/rccm.201508-1667OC","article-title":"AMP-activated protein kinase deficiency blocks the hypoxic ventilatory response and thus precipitates hypoventilation and apnea","volume":"193","author":"Mahmoud","year":"2016","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.isci.2025.112911_bib34","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s00424-022-02713-8","article-title":"AMPK facilitates the hypoxic ventilatory response through non-adrenergic mechanisms at the brainstem","volume":"475","author":"MacMillan","year":"2023","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.isci.2025.112911_bib35","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1038\/s42003-022-03583-7","article-title":"LKB1 is the gatekeeper of carotid body chemosensing and the hypoxic ventilatory response","volume":"5","author":"MacMillan","year":"2022","journal-title":"Commun. Biol."},{"key":"10.1016\/j.isci.2025.112911_bib36","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1007\/s00424-024-02957-6","article-title":"SubSol-HIe is an AMPK-dependent hypoxia-responsive subnucleus of the nucleus tractus solitarius that coordinates the hypoxic ventilatory response and protects against apnoea in mice","volume":"476","author":"MacMillan","year":"2024","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.isci.2025.112911_bib37","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1126\/science.1183863","article-title":"A composite of multiple signals distinguishes causal variants in regions of positive selection","volume":"327","author":"Grossman","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.isci.2025.112911_bib38","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1080\/01621459.1995.10476572","article-title":"Bayes factors","volume":"90","author":"Kass","year":"1995","journal-title":"J. Am. Stat. Assoc."},{"key":"10.1016\/j.isci.2025.112911_bib39","doi-asserted-by":"crossref","first-page":"D930","DOI":"10.1093\/nar\/gkr917","article-title":"HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants","volume":"40","author":"Ward","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.isci.2025.112911_bib40","doi-asserted-by":"crossref","first-page":"697","DOI":"10.3389\/fendo.2018.00697","article-title":"Sex differences in autonomic cardiac control and oxygen saturation response to short-term normobaric hypoxia and following Recovery: Effect of aerobic fitness","volume":"9","author":"Botek","year":"2018","journal-title":"Front. Endocrinol."},{"key":"10.1016\/j.isci.2025.112911_bib41","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/0034-5687(90)90027-V","article-title":"Combined effects of female hormones and exercise on hypoxic ventilatory response","volume":"82","author":"Regensteiner","year":"1990","journal-title":"Respir. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib42","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1152\/jappl.1981.50.6.1300","article-title":"Respiratory drives and exercise in menstrual cycles of athletic and nonathletic women","volume":"50","author":"Schoene","year":"1981","journal-title":"J. Appl. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib43","doi-asserted-by":"crossref","first-page":"4423","DOI":"10.1113\/JP284767","article-title":"The normal distribution of the hypoxic ventilatory response and methodological impacts: a meta-analysis and computational investigation","volume":"601","author":"Oeung","year":"2023","journal-title":"J. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib44","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1101\/gr.220202.117","article-title":"Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints","volume":"27","author":"Schwessinger","year":"2017","journal-title":"Genome Res."},{"key":"10.1016\/j.isci.2025.112911_bib45","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1016\/j.cell.2014.08.009","article-title":"Determination and inference of eukaryotic transcription factor sequence specificity","volume":"158","author":"Weirauch","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.isci.2025.112911_bib46","doi-asserted-by":"crossref","DOI":"10.1155\/2011\/548171","article-title":"The role of placental homeobox genes in human fetal growth restriction","volume":"2011","author":"Murthi","year":"2011","journal-title":"J. Pregnancy"},{"key":"10.1016\/j.isci.2025.112911_bib47","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1203\/01.PDR.0000139427.26083.3D","article-title":"Respiratory adaptations to lung morphological defects in adult mice lacking Hoxa5 gene function","volume":"56","author":"Kinkead","year":"2004","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.isci.2025.112911_bib48","doi-asserted-by":"crossref","first-page":"R1219","DOI":"10.1152\/ajpregu.00028.2012","article-title":"Hypoxia activates nucleus tractus solitarii neurons projecting to the paraventricular nucleus of the hypothalamus","volume":"302","author":"King","year":"2012","journal-title":"Am. J. Physiol. Regul. Integr. Comp. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib49","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1007\/s00408-015-9806-7","article-title":"Effects of twenty days of the ketogenic diet on metabolic and respiratory parameters in healthy subjects","volume":"193","author":"Alessandro","year":"2015","journal-title":"Lung"},{"key":"10.1016\/j.isci.2025.112911_bib50","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0014-5793(87)80292-2","article-title":"A common bicyclic protein kinase cascade inactivates the regulatory enzymes of fatty acid and cholesterol biosynthesis","volume":"223","author":"Carling","year":"1987","journal-title":"FEBS Lett."},{"key":"10.1016\/j.isci.2025.112911_bib51","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.resp.2004.04.001","article-title":"Effects of exposure to a simulated altitude of 5500 m on energy metabolic pathways in rats","volume":"141","author":"Ou","year":"2004","journal-title":"Respir. Physiol. Neurobiol."},{"key":"10.1016\/j.isci.2025.112911_bib52","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1093\/eurheartj\/ehy624","article-title":"The hypoxic burden of sleep apnoea predicts cardiovascular disease-related mortality: the Osteoporotic Fractures in Men Study and the Sleep Heart Health Study","volume":"40","author":"Azarbarzin","year":"2019","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.isci.2025.112911_bib53","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/0034-5687(83)90086-5","article-title":"Dependence of high altitude sleep apnea on ventilatory sensitivty to hypoxia","volume":"52","author":"Lahiri","year":"1983","journal-title":"Respir. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib54","doi-asserted-by":"crossref","first-page":"523","DOI":"10.2170\/jjphysiol.39.523","article-title":"Periodic breathing at high altitude and ventilatory responses to O2 and CO2","volume":"39","author":"Masuyama","year":"1989","journal-title":"Jpn. J. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib55","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s11325-007-0155-5","article-title":"Cheyne stokes breathing at high altitude: a helpful response or a troublemaker?","volume":"12","author":"K\u00fcpper","year":"2008","journal-title":"Sleep Breath."},{"key":"10.1016\/j.isci.2025.112911_bib56","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.9734\/BJMMR\/2015\/17501","article-title":"Common high altitudes illnesses a primer for healthcare provider","volume":"7","author":"Mohsenin","year":"2015","journal-title":"Br. J. Med. Med. Res."},{"key":"10.1016\/j.isci.2025.112911_bib57","first-page":"23","article-title":"HOX genes: seductive science, mysterious mechanisms","volume":"75","author":"Lappin","year":"2006","journal-title":"Ulst. Med. J."},{"key":"10.1016\/j.isci.2025.112911_bib58","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.38619","article-title":"Mapping the transcriptional diversity of genetically and anatomically defined cell populations in the mouse brain","volume":"8","author":"Sugino","year":"2019","journal-title":"eLife"},{"key":"10.1016\/j.isci.2025.112911_bib59","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2022.1072475","article-title":"Transcription factors regulating the specification of brainstem respiratory neurons","volume":"15","author":"Xia","year":"2022","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.isci.2025.112911_bib60","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2022.111210","article-title":"The AMPK-HOXB9-KRAS axis regulates lung adenocarcinoma growth in response to cellular energy alterations","volume":"40","author":"Wang","year":"2022","journal-title":"Cell Rep."},{"key":"10.1016\/j.isci.2025.112911_bib61","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/nrm2249","article-title":"AMP-activated\/SNF1 protein kinases: conserved guardians of cellular energy","volume":"8","author":"Hardie","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.isci.2025.112911_bib62","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1152\/physrev.00011.2008","article-title":"AMPK in health and disease","volume":"89","author":"Steinberg","year":"2009","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.isci.2025.112911_bib63","doi-asserted-by":"crossref","first-page":"31629","DOI":"10.1074\/jbc.M212831200","article-title":"Direct activation of AMP-activated protein kinase stimulates nitric-oxide synthesis in human aortic endothelial cells","volume":"278","author":"Morrow","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.isci.2025.112911_bib64","doi-asserted-by":"crossref","first-page":"4093","DOI":"10.1113\/JP279341","article-title":"AMP-activated protein kinase activator AICAR attenuates hypoxia-induced murine fetal growth restriction in part by improving uterine artery blood flow","volume":"598","author":"Lane","year":"2020","journal-title":"J. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib65","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.118.010745","article-title":"Complex role for E-prostanoid 4 receptors in hypertension","volume":"8","author":"Herrera","year":"2019","journal-title":"J. Am. Heart Assoc."},{"key":"10.1016\/j.isci.2025.112911_bib66","doi-asserted-by":"crossref","first-page":"4169","DOI":"10.1113\/JP282772","article-title":"Inflammatory gene expression during acute high-altitude exposure","volume":"600","author":"Pham","year":"2022","journal-title":"J. Physiol."},{"key":"10.1016\/j.isci.2025.112911_bib67","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/36342","article-title":"The prostaglandin receptor EP4 triggers remodelling of the cardiovascular system at birth","volume":"390","author":"Nguyen","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.isci.2025.112911_bib68","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/jhg.2012.55","article-title":"Genetic variability of prostaglandin E2 receptor subtype EP4 gene in aspirin-intolerant chronic urticaria","volume":"57","author":"Palikhe","year":"2012","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.isci.2025.112911_bib69","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s40279-023-01954-6","article-title":"Women at altitude: Sex-related physiological responses to exercise in hypoxia","volume":"54","author":"Raberin","year":"2024","journal-title":"Sports Med."},{"key":"10.1016\/j.isci.2025.112911_bib71","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1093\/bioinformatics\/btu562","article-title":"Cosi2: an efficient simulator of exact and approximate coalescent with selection","volume":"30","author":"Shlyakhter","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.isci.2025.112911_bib72","doi-asserted-by":"crossref","first-page":"D260","DOI":"10.1093\/nar\/gkx1126","article-title":"JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework","volume":"46","author":"Khan","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.isci.2025.112911_bib73","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1093\/bioinformatics\/btq419","article-title":"LocusZoom: regional visualization of genome-wide association scan results","volume":"26","author":"Pruim","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.isci.2025.112911_bib74","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.adj5661","article-title":"Functional EPAS1\/HIF2A missense variant is associated with hematocrit in Andean highlanders","volume":"10","author":"Lawrence","year":"2024","journal-title":"Sci. Adv."},{"key":"10.1016\/j.isci.2025.112911_bib75","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.isci.2025.112911_bib76","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/0304-4076(85)90158-7","article-title":"Some heteroskedasticity-consistent covariance matrix estimators with improved finite sample properties","volume":"29","author":"MacKinnon","year":"1985","journal-title":"J. Econom."}],"container-title":["iScience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589004225011721?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589004225011721?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T02:03:09Z","timestamp":1771380189000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589004225011721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":75,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S2589004225011721"],"URL":"https:\/\/doi.org\/10.1016\/j.isci.2025.112911","relation":{},"ISSN":["2589-0042"],"issn-type":[{"value":"2589-0042","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes","name":"articletitle","label":"Article Title"},{"value":"iScience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.isci.2025.112911","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"112911"}}