A5101449205- Erythrocyte Function and Pathophysiology
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Hemoglobinopathies and Related Disorders
- Cancer, Hypoxia, and Metabolism
- High Altitude and Hypoxia
- Cancer-related molecular mechanisms research
- Erythropoietin and Anemia Treatment
- Kruppel-like factors research
- Acute Myeloid Leukemia Research
- Eosinophilic Disorders and Syndromes
- RNA modifications and cancer
- Bone and Joint Diseases
- Cytokine Signaling Pathways and Interactions
- Lipid metabolism and disorders
- Autophagy in Disease and Therapy
- Neuroscience of respiration and sleep
- Adipose Tissue and Metabolism
- Iron Metabolism and Disorders
- Chronic Myeloid Leukemia Treatments
- Epigenetics and DNA Methylation
- Blood groups and transfusion
- Obstructive Sleep Apnea Research
- Heme Oxygenase-1 and Carbon Monoxide
- Biomarkers in Disease Mechanisms
- Pulmonary Hypertension Research and Treatments
Huntsman Cancer Institute
2018-2025
University of Utah
2016-2025
Huntsman (United States)
2023
Korea University
2022
ARUP Laboratories (United States)
2020
United States Department of Veterans Affairs
2013
Abstract Thrombosis is a major cause of morbidity and mortality in polycythemia vera (PV) essential thrombocythemia (ET). The pathophysiology thrombosis these disorders remains unclear, we hypothesized that upregulation thrombotic, inflammatory, hypoxia-inducible factor (HIF)–regulated genes may play role it. We performed unbiased RNA sequencing granulocytes platelets PV patients found differential expression several HIF-regulated genes. many positively correlated with JAK2 JAK2V617F allelic...
Heterozygous gain-of-function (GOF) mutations of hypoxia-inducible factor 2α (HIF2A), a key hypoxia-sensing regulator, are associated with erythrocytosis, thrombosis, and vascular complications that account for morbidity mortality patients. We demonstrated the pathology HIF2A GOF is independent erythrocytosis. generated GOF-induced pluripotent stem cells (iPSCs) differentiated them into endothelial (ECs) smooth muscle (SMCs). Unexpectedly, HIF2A-SMCs, but not HIF2A-ECs, were phenotypically...
Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), Ethiopians. Unlike Tibetans Ethiopians who have similar hemoglobin (Hb) levels as individuals sea level, Aymara Hb increase when higher altitudes. Our previous whole genome study of people revealed several selected genes that involved in cardiovascular functions, but their relationship with was not elucidated. Here, we studied the frequencies known evolutionary-selected variants Tibetan...
Abstract Obstructive sleep apnea (OSA) causes intermittent hypoxia during sleep. Hypoxia predictably initiates an increase in the blood hemoglobin concentration (Hb); yet our analysis of 527 patients with OSA, >98% did not have elevated Hb. To understand why OSA do develop secondary erythrocytosis due to hypoxia, we first hypothesized that occurs these patients, but is masked by a concomitant plasma volume. However, excluded explanation finding red cell mass was normal (measured...
Abstract Polycythemia vera (PV) is a clonal disorder arising from the acquired somatic mutations of JAK2 gene, including V617F or several others in exon 12. A 38‐year‐old female had stroke at age 32 and found to have elevated hemoglobin, normal leukocytes, platelets, tested negative for 12 mutations. Next generation sequencing revealed novel mutation: R715T pseudokinase domain (JH2) 47.5%. Its presence her nail DNA confirmed germline origin. Her mother son similarly erythrocytosis mutation....
Molar-incisor malformation (MIM)ì ìµê·¼ì ìë ¤ì§ ì¹ì ì´ìì¼ë¡ ì 1ë구ì¹ì ì¹ê·¼ íí ì´ìì´ í¹ì§ì ì´ë©°, 2ì 구ì¹ì ë¹ì íì ë° ì¤ì ì¹ì ë²ëì§ ê²°í¨ì ëë°í기ë íë¤. 본 ì°êµ¬ë MIMì¼ë¡ ì§ë¨í 3ëª ì íìì ëíì¬ ë³´ê³ íê³ , ì´ì ê´í 문í ê³ ì°°ì ì íë¤.3ëª íì 모ë ì´ìì ë³´ìì¼ë©°, ê·¸ ëë ë¤ìíë¤. 2ëª íìë ì¶ì ì ìíì ë³ë ¥ì ê°ì§ê³ ììì¼ë©°, í ëª ì¼ëì±...
Genetic modifiers of anemia in Plasmodium falciparum infection and sickle cell disease (SCD) are not fully known. Both conditions associated with oxidative stress, hemolysis anemia. The CYB5R3 gene encodes cytochrome b5 reductase 3, which converts methemoglobin to hemoglobin through oxidation NADH.
Thromboses are major causes of morbidity and mortality in polycythemia vera (PV) essential thrombocythemia (ET) diseases associated with JAK2V617F mutation. However, the molecular mechanism(s) increased thrombosis PV ET remain unknown. Kruppel-like factor 2 (KLF2) is a transcription that regulates expression genes inflammation thrombosis; absence KLF2 neutrophils by inducing tissue factor. We studied role regulating prothrombotic gene ET. Neutrophils platelets was lower than controls....
We report an infant with sickle cell disease phenotype by biochemical analysis whose β-globin gene (HBB) sequencing showed mutation (HBBS ) heterozygosity. The proband has a unique head-to-tail duplication of the cluster having wild-type (HBBA and HBBS alleles inherited from her father; constituting /HBBS -HBBA genotype. Further analyses revealed that proband's duplicated (∼650 kb) encompassing HBBA does not include immediate upstream locus control region (LCR) or 3' DNase I hypersensitivity...