EPAS1 and EGLN1 associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai–Tibetan Plateau

Norman E. Buroker, Xue-Han Ning, Zhao-Nian Zhou, +6

Blood Cells Molecules and Diseases

High Altitude SicknessTibetan ChineseAllergyGlobal HealthEgln1 Associations +4

Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency

John E. Yount, Peter W. Nichols, Hans D. Ochs, +5

The Journal of Pediatrics

Primary ImmunodeficiencyImmunodeficienciesImmunologyPathologyErythrocyte Adenosine Deaminase +3

Variable Severity of Pulmonary Disease in Adults with Identical Cystic Fibrosis Mutations

Wylie Burke, Moira L. Aitken, Shi-Han Chen, +1

CHEST Journal

Variable SeverityAdvanced Lung DiseaseGenetic EpidemiologyPathologyPulmonary Fibrosis +3

AKT3, ANGPTL4, eNOS3, and VEGFA associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau

Norman E. Buroker, Xue-Han Ning, Zhao-Nian Zhou, +6

International Journal of Hematology

Qinghai-tibetan PlateauHigh Altitude SicknessTibetan ChineseAllergyGlobal Health +5

Signaling and expression for mitochondrial membrane proteins during left ventricular remodeling and contractile failure after myocardial infarction

Xue-Han Ning, Jianyi Zhang, Jingbo Liu, +5

Journal of the American College of Cardiology

Cardiac MuscleProtein Quality ControlHeart FailureCardiomyopathyMitochondrial Function +9

VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau

Norman E. Buroker, Xue-Han Ning, Zhao-Nian Zhou, +6

The Journal of Physiological Sciences

Moderate hypothermia (30°C) maintains myocardial integrity and modifies response of cell survival proteins after reperfusion

Xue-Han Ning, Y. Emil, Norman E. Buroker, +6

American Journal of Physiology-Heart and Circulatory Physiology

Cardiac MuscleCollagen IntegrityP53 ProteinCardiovascular FunctionCellular Physiology +15

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

Shi-Han Chen, Min Zhang, E.W. Lovrien, +2

Human Genetics

Cg Dinucleotide TransitionsHemophilia B PatientsSeattle SeriesGenetic DisorderGenetics +5

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families

Qili Zhu, Min Zhang, Jerry A. Winkelstein, +2

Human Molecular Genetics

Qili Zhu DepartmentGeneticsImmunodeficienciesTyrosine KinaseUnique Mutations +18

Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau

Norman E. Buroker, Xue-Han Ning, Zhao-Nian Zhou, +8

Clinica Chimica Acta

Qinghai-tibetan PlateauGenetic DisorderGenetic EpidemiologyHuman PolymorphismMountain Sickness +5