Abstract Since the Von Hippel–Lindau (VHL) disease tumour suppressor gene VHL was
identified in 1993 as the genetic basis for a rare disorder, it has proved to be of wide medical …

A classic physiologic response to systemic hypoxia is the increase in red blood cell
production. Hypoxia-inducible factors (HIFs) orchestrate this response by inducing cell-type …

In mammals, erythropoietin (EPO), produced in the kidney, is essential for bone marrow
erythropoiesis, and hypoxia induction of EPO production provides for the important …

Polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with
myelofibrosis (MMM) are clonal disorders arising from hematopoietic progenitors. An …

Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene causes the
von Hippel-Lindau hereditary cancer syndrome, and somatic mutations of this gene have …

During the past century, few proteins have matched erythropoietin (Epo) in capturing the
imagination of physiologists, molecular biologists, and, more recently, physicians and …

Lineage-Specific Hematopoietic Growth Factors | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital
polycythemia, and are found in many sporadic tumor types as well. Reports of VHL …

Hypoxia-inducible factor (HIF) α, which has three isoforms, is central to the continuous
balancing of the supply and demand of oxygen throughout the body. HIF-α is a transcription …

Adaptation to hypoxia is critical for survival and regulates multiple processes, including
erythropoiesis and vasculogenesis. Chuvash polycythemia is a hypoxia-sensing disorder …