Germline loss-of-function mutations of the VHL tumor suppressor gene cause von Hippel–
Lindau disease, which is associated with an increased risk of hemangioblastomas, clear cell …

Oxoglutarate-dependent dioxygenases (2OGDDs) are a superfamily of enzymes that play
diverse roles in many biological processes, including regulation of hypoxia-inducible factor …

Abstract Characterization of the progression of cellular states during human embryogenesis
can provide insights into the origin of pediatric diseases. We examined the transcriptional …

To maximize the impact of precision medicine approaches, it is critical to identify genetic
variants underlying disease and to accurately quantify their functional effects. A gene …

Objective: The aim was to formulate clinical practice guidelines for pheochromocytoma and
paraganglioma (PPGL). Participants: The Task Force included a chair selected by the …

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 …

Cancer metabolism has long been equated with aerobic glycolysis, seen by early
biochemists as primitive and inefficient. Despite these early beliefs, the metabolic signatures …

Cancer cells must rewire cellular metabolism to satisfy the demands of growth and
proliferation. Although many of the metabolic alterations are largely similar to those in …

An understanding of metabolic pathways based solely on biochemistry textbooks would
underestimate the pervasive role of metabolism in essentially every aspect of biology. It is …

The neuroendocrine tumours pheochromocytomas and paragangliomas carry the highest
degree of heritability in human neoplasms, enabling genetic alterations to be traced to …