WebWe describe the use of belzutifan, a potent and selective small-molecule inhibitor of the protein hypoxia-inducible factor 2α (HIF2α), in a patient with polycythemia and multiple paragangliomas... Endothelial PAS domain-containing protein 1 (EPAS1, also known as hypoxia-inducible factor-2alpha (HIF-2α)) is a protein that is encoded by the EPAS1 gene in mammals. It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen concentration. … Ver mais The EPAS1 gene encodes one subunit of a transcription factor involved in the induction of genes regulated by oxygen, and which is induced as oxygen concentration falls (hypoxia). The protein contains a Ver mais A high percentage of Tibetans carry an allele of EPAS1 that improves oxygen transport. The beneficial allele is also found in the extinct Denisovan genome, suggesting that it … Ver mais EPAS1 has been shown to interact with aryl hydrocarbon receptor nuclear translocator and ARNTL. Ver mais • EPAS1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from the United States National Library of Medicine Ver mais Mutations in the EPAS1 gene are related to early-onset neuroendocrine tumors such as paragangliomas, somatostatinomas and/or pheochromocytomas. … Ver mais • Brahimi-Horn MC, Pouysségur J (2005). "The hypoxia-inducible factor and tumor progression along the angiogenic pathway". International Review of Cytology. 242: … Ver mais
HIF3A Gene - GeneCards HIF3A Protein HIF3A Antibody
Web17 de ago. de 2024 · Both HIF-1α and HIF-2α are required for the clear cell phenotype. Transcriptomic and proteomic analyses reveal that HIF-1α regulates glycolysis while HIF … Web21 de mar. de 2024 · EIF2A (Eukaryotic Translation Initiation Factor 2A) is a Protein Coding gene. Among its related pathways are Host-pathogen interaction of human corona viruses - ER stress and Nanog in … flowserve circpac seal
Endothelial HIF-2α contributes to severe pulmonary ... - PubMed
Web27 de nov. de 2024 · The Pacak–Zhuang syndrome is a rare tumor-predisposition syndrome caused by gain-of-function mutations in the gene encoding HIF2α (EPAS1, also known as HIF2A). 1-3 Persons with this syndrome ... WebTable 1. Clinical features and management of ten patients with EGLN1(PHD2)/ EPAS1(HIF2A)/VHL pathogenic variant associated erythrocytosis.. Canonical exon 8 EPOR c.1316G>A mutations, 9 occurred in two patients, 48- and 69-year-old females, with a family history of erythrocytosis, and Hb/Hct/Epo levels of 19.4/56.6/1.1 and 14.6/44.3/<1, … Web10 de jan. de 2008 · We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production in adults. flowserve coimbatore contact number