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 …

The autosomal dominantly inherited disorder von Hippel–Lindau disease (VHL) is caused
by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations …

The kidney is a highly sensitive oxygen sensor and plays a central role in mediating the
hypoxic induction of red blood cell production. Efforts to understand the molecular basis of …

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

Abstract von Hippel‐Lindau (VHL) disease is a dominantly inherited familial cancer
syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays …

Because of the central role that red blood cells play in the delivery of oxygen to tissues of the
body, red blood cell mass must be controlled at precise levels. The glycoprotein hormone …

Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and
heterogeneous clinical entity. It is caused by deregulated red blood cell production where …

Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a
homozygous p. Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this …

Organisms living under aerobic conditions need oxygen for the metabolic conversion of
nutrition into energy. With the appearance of increasingly complex animals, a specialized …

Von Hippel–Lindau (VHL) disease is a rare autosomal dominant syndrome (1/36,000 live
births) with highly penetrance that predispose to the development of a panel of highly …