Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia

Less is more: blunted responses to hypoxia revealed in sea-level Tibetans

(2013) Tatum S. Simonson et al.   JOURNAL OF APPLIED PHYSIOLOGY

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2α gain-of-function mutation

(2011) Federico Formenti et al.   FASEB JOURNAL

A Genome-Wide Search for Signals of High-Altitude Adaptation in Tibetans

(2010) S. Xu et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genetic Variations in Tibetan Populations and High-Altitude Adaptation at the Himalayas

(2010) Y. Peng et al.   MOLECULAR BIOLOGY AND EVOLUTION

Natural selection on EPAS1 (HIF2 ) associated with low hemoglobin concentration in Tibetan highlanders

(2010) C. M. Beall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Evidence for High-Altitude Adaptation in Tibet

(2010) T. S. Simonson et al.   SCIENCE

Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude

(2010) X. Yi et al.   SCIENCE

Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data

(2010) Abigail Bigham et al.   PLoS Genetics

Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis

(2009) G. L. Semenza   BLOOD

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

(2009) John C Chambers et al.   NATURE GENETICS

Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

(2009) Beben Benyamin et al.   NATURE GENETICS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

(2008) M. J. Percy et al.   BLOOD

Variations within oxygen-regulated gene expression in humans

(2008) Jerome T. S. Brooks et al.   JOURNAL OF APPLIED PHYSIOLOGY

A Gain-of-Function Mutation in theHIF2AGene in Familial Erythrocytosis

(2008) Melanie J. Percy et al.   NEW ENGLAND JOURNAL OF MEDICINE