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Redefining endothelial progenitor cells via clonal analysis and hematopoietic stem/progenitor cell principals.
The limited vessel-forming capacity of infused endothelial progenitor cells (EPCs) into patients with cardiovascular dysfunction may be related to a misunderstanding of the biologic potential of the… Expand
Genetic Evidence for High-Altitude Adaptation in Tibet
No Genetic Vertigo Peoples living in high altitudes have adapted to their situation (see the Perspective by Storz). To identify gene regions that might have contributed to high-altitude adaptation in… Expand
Essential role for Nix in autophagic maturation of erythroid cells
Erythroid cells undergo enucleation and the removal of organelles during terminal differentiation. Although autophagy has been suggested to mediate the elimination of organelles for erythroid… Expand
JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia.
An activating 1849G>T mutation of JAK2 (Janus kinase 2) tyrosine kinase was recently described in chronic myeloproliferative disorders (MPDs). Its role in other hematologic neoplasms is unclear. We… Expand
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash polycythemia to chromosome 3p25. The gene… Expand
Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera.
OBJECTIVE Clonal stem cell proliferation and increased erythrocyte mass are hallmarks of the myeloproliferative disorder polycythemia vera (PV). The molecular basis of PV is unknown. METHODS We… Expand
A genetic mechanism for Tibetan high-altitude adaptation
Tibetans do not exhibit increased hemoglobin concentration at high altitude. We describe a high-frequency missense mutation in the EGLN1 gene, which encodes prolyl hydroxylase 2 (PHD2), that… Expand
The evolution of cellular deficiency in GATA2 mutation.
Constitutive heterozygous GATA2 mutation is associated with deafness, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and acute myeloid leukemia. In this study, we describe a… Expand
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.
- Z. Zhuang, C. Yang, +7 authors K. Pacak
- Biology, Medicine
- The New England journal of medicine
- 29 August 2012
Hypoxia-inducible factors are transcription factors controlling energy, iron metabolism, erythropoiesis, and development. When these proteins are dysregulated, they contribute to tumorigenesis and… Expand
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.
Divalent metal transporter 1 (DMT1) is a transmembrane protein crucial for duodenal iron absorption and erythroid iron transport. DMT1 function has been elucidated largely in studies of the mk mouse… Expand