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Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes.

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Title: Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes.
Authors: Lawrence ES; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Gu W; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA., Kong MC; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.; Department of Bioengineering, University of California, San Diego, La Jolla, CA, USA., Fassardi S; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Anza-Ramirez C; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Moya EA; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Heinrich EC; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA, USA., Yu JJ; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Orr JE; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Cao SY; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA., Sanchez-Azofra A; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Cole AM; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Hall JE; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Lin A; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., DeYoung PN; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Vizcardo-Galindo G; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Macarlupu JL; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Figueroa-Mujíca R; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Bermudez D; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Corante N; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Cavalleri GL; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Gaio E; Laboratório de Fisiologia Respiratória, Faculdade de Medicina, Universidade de Brasília, Brasilia, Brazil., Evans AM; Centre for Discovery Brain Sciences, Hugh Robson Building, Edinburgh Medical School, University of Edinburgh, Edinburgh, UK., Powell FL; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Malhotra A; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA., Salem RM; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA., Villafuerte FC; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru., Simonson TS; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.
Source: IScience [iScience] 2025 Jun 16; Vol. 28 (8), pp. 112911. Date of Electronic Publication: 2025 Jun 16 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE
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  Data: Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Lawrence+ES%22">Lawrence ES</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gu+W%22">Gu W</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Kong+MC%22">Kong MC</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.; Department of Bioengineering, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Fassardi+S%22">Fassardi S</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Anza-Ramirez+C%22">Anza-Ramirez C</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Moya+EA%22">Moya EA</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Heinrich+EC%22">Heinrich EC</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA, USA.<br /><searchLink fieldCode="AU" term="%22Yu+JJ%22">Yu JJ</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Orr+JE%22">Orr JE</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Cao+SY%22">Cao SY</searchLink>; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sanchez-Azofra+A%22">Sanchez-Azofra A</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Cole+AM%22">Cole AM</searchLink>; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Hall+JE%22">Hall JE</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Lin+A%22">Lin A</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22DeYoung+PN%22">DeYoung PN</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Vizcardo-Galindo+G%22">Vizcardo-Galindo G</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Macarlupu+JL%22">Macarlupu JL</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Figueroa-Mujíca+R%22">Figueroa-Mujíca R</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Bermudez+D%22">Bermudez D</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Corante+N%22">Corante N</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Cavalleri+GL%22">Cavalleri GL</searchLink>; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Gaio+E%22">Gaio E</searchLink>; Laboratório de Fisiologia Respiratória, Faculdade de Medicina, Universidade de Brasília, Brasilia, Brazil.<br /><searchLink fieldCode="AU" term="%22Evans+AM%22">Evans AM</searchLink>; Centre for Discovery Brain Sciences, Hugh Robson Building, Edinburgh Medical School, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Powell+FL%22">Powell FL</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Malhotra+A%22">Malhotra A</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Salem+RM%22">Salem RM</searchLink>; Herbert Wertheim School of Public Health and Longevity Sciences, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Villafuerte+FC%22">Villafuerte FC</searchLink>; Fisiología del Transporte de Oxígeno y Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias e Ingeniería, Universidad Perúana Cayetano Heredia, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Simonson+TS%22">Simonson TS</searchLink>; Department of Medicine, Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology University of California, San Diego, La Jolla, CA, USA.
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