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  • EPAS1-related pheochromocytoma paraganglioma - PubMed
    The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes PPGLs are the most common manifestation followed by polycythemia and somatostatinoma
  • Functional significance of germline EPAS1 variants - PMC
    Mosaic or somatic EPAS1 mutations are associated with a range of phenotypes including pheochromocytoma and or paraganglioma (PPGL), polycythemia and somatostatinoma The pathogenic potential of germline EPAS1 variants however is not well understood
  • EPAS1-related pheochromocytoma paraganglioma - ScienceDirect
    We comprehensively reviewed EPAS1 -related PPGL and describe an unusual patient who has been living with an EPAS1 -related metastatic PPGL for 47 years The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes
  • Frequent EPAS1 HIF2α exons 9 and 12 mutations in non-familial . . . - erc
    Mutations in genes involved in the cellular hypoxia response have been identified in tumors, and recently EPAS1, encoding HIF2α, has been revealed to be a new gene involved in the pathogenesis of pheochromocytoma and abdominal paraganglioma
  • Single-nuclei and bulk-tissue gene-expression analysis of . . . - Nature
    Pheochromocytomas (PC) and paragangliomas (PG) are rare neuroendocrine tumors associated with autonomic nerves Here we use single-nuclei RNA-seq and bulk-tissue gene-expression data to
  • Pheochromocytoma and Paraganglioma | NEJM - New England Journal of Medicine
    Comino-Méndez I, de Cubas AA, Bernal C, et al Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis Hum Mol Genet
  • Identification of Novel Mutations and Expressions of EPAS1 in . . .
    Recent studies have demonstrated that mutations in endothelial PAS domain-containing protein 1 (EPAS1) is associated with manifestations of phaeochromocytomas and paragangliomas [1, 9, 12, 13, 14] EPAS1, also known as HIF-2α, encodes for one of the hypoxia inducible factor (HIF) family members, which is involved in the hypoxic response [15]
  • EPAS1 -related pheochromocytoma paraganglioma - erc
    We comprehensively reviewed EPAS1 -related PPGL and describe an unusual patient who has been living with an EPAS1 -related metastatic PPGL for 47 years The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes





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