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Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.

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Title: Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Authors: Lawrence ES; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Gu W; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Bohlender RJ; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Anza-Ramirez C; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Cole AM; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Yu JJ; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Hu H; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Heinrich EC; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA, USA., O'Brien KA; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK., Vasquez CA; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA., Cowan QT; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA., Bruck PT; Department of Anthropology and Global Health, University of California, San Diego, La Jolla, CA, USA., Mercader K; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA., Alotaibi M; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA., Long T; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA.; Sapient Bioanalytics, LLC, San Diego, CA, USA., Hall JE; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Moya EA; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Bauk MA; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Reeves JJ; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Kong MC; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Bioengineering, 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., Vizcardo-Galindo G; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Macarlupu JL; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Figueroa-Mujíca R; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Bermudez D; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Corante N; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Gaio E; Laboratório de Fisiologia Respiratória, Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil., Fox KP; Department of Anthropology and Global Health, University of California, San Diego, La Jolla, CA, USA., Salomaa V; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland., Havulinna AS; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.; Institute for Molecular Medicine Finland (FIMM-HiLIFE), Helsinki, Finland., Murray AJ; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK., Malhotra A; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Powel FL; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Jain M; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA.; Sapient Bioanalytics, LLC, San Diego, CA, USA., Komor AC; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA., Cavalleri GL; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Huff CD; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Villafuerte FC; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú., Simonson TS; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Source: Science advances [Sci Adv] 2024 Feb 09; Vol. 10 (6), pp. eadj5661. Date of Electronic Publication: 2024 Feb 09.
Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
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  Data: <searchLink fieldCode="AU" term="%22Lawrence+ES%22">Lawrence ES</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gu+W%22">Gu W</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bohlender+RJ%22">Bohlender RJ</searchLink>; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Anza-Ramirez+C%22">Anza-Ramirez C</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<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="%22Yu+JJ%22">Yu JJ</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hu+H%22">Hu H</searchLink>; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Heinrich+EC%22">Heinrich EC</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, 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="%22O'Brien+KA%22">O'Brien KA</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.; 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Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Kong+MC%22">Kong MC</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, 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="%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="%22Vizcardo-Galindo+G%22">Vizcardo-Galindo G</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Macarlupu+JL%22">Macarlupu JL</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Figueroa-Mujíca+R%22">Figueroa-Mujíca R</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Bermudez+D%22">Bermudez D</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Corante+N%22">Corante N</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Gaio+E%22">Gaio E</searchLink>; 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Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Jain+M%22">Jain M</searchLink>; Department of Medicine and Pharmacology, University of California, San Diego, La Jolla, CA, USA.; Sapient Bioanalytics, LLC, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Komor+AC%22">Komor AC</searchLink>; Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA.<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="%22Huff+CD%22">Huff CD</searchLink>; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Villafuerte+FC%22">Villafuerte FC</searchLink>; Laboratorio de Fisiología Comparada/Fisiología de del Transporte de Oxígeno-LID, Departamento de Ciencias Biológicas y Fisiológicas, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Perú.<br /><searchLink fieldCode="AU" term="%22Simonson+TS%22">Simonson TS</searchLink>; Division of Pulmonary, Critical Care, Sleep Medicine, and Physiology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
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