Clear cell renal cell carcinoma ontogeny and mechanisms of lethality

E Jonasch, CL Walker, WK Rathmell - Nature Reviews Nephrology, 2021 - nature.com
The molecular features that define clear cell renal cell carcinoma (ccRCC) initiation and
progression are being increasingly defined. The TRACERx Renal studies and others that …

[HTML][HTML] Von Hippel–Lindau disease: Insights into oxygen sensing, protein degradation, and cancer

WG Kaelin - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
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 …

[HTML][HTML] HIF-1α and HIF-2α differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice

R Hoefflin, S Harlander, S Schäfer, P Metzger… - Nature …, 2020 - nature.com
Mutational inactivation of VHL is the earliest genetic event in the majority of clear cell renal
cell carcinomas (ccRCC), leading to accumulation of the HIF-1α and HIF-2α transcription …

Mechanisms of hypoxia signalling: new implications for nephrology

J Schödel, PJ Ratcliffe - Nature Reviews Nephrology, 2019 - nature.com
Studies of the regulation of erythropoietin (EPO) production by the liver and kidneys, one of
the classical physiological responses to hypoxia, led to the discovery of human oxygen …

[HTML][HTML] p53/microRNA-214/ULK1 axis impairs renal tubular autophagy in diabetic kidney disease

Z Ma, L Li, MJ Livingston, D Zhang, Q Mi… - The Journal of …, 2020 - Am Soc Clin Investig
Dysregulation of autophagy in diabetic kidney disease (DKD) has been reported, but the
underlying mechanism and its pathogenic role remain elusive. We show that autophagy was …

VHL, the story of a tumour suppressor gene

L Gossage, T Eisen, ER Maher - Nature Reviews Cancer, 2015 - nature.com
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 …

Fructose-1, 6-bisphosphatase opposes renal carcinoma progression

B Li, B Qiu, DSM Lee, ZE Walton, JD Ochocki… - Nature, 2014 - nature.com
Clear cell renal cell carcinoma (ccRCC), the most common form of kidney cancer, is
characterized by elevated glycogen levels and fat deposition. These consistent metabolic …

[HTML][HTML] Oligodendrocyte-encoded HIF function couples postnatal myelination and white matter angiogenesis

TJ Yuen, JC Silbereis, A Griveau, SM Chang… - Cell, 2014 - cell.com
Myelin sheaths provide critical functional and trophic support for axons in white matter tracts
of the brain. Oligodendrocyte precursor cells (OPCs) have extraordinary metabolic …

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

J Wu, Y Jiao, M Dal Molin, A Maitra… - Proceedings of the …, 2011 - National Acad Sciences
More than 2% of adults harbor a pancreatic cyst, a subset of which progresses to invasive
lesions with lethal consequences. To assess the genomic landscapes of neoplastic cysts of …

[PDF][PDF] Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling

J Adam, E Hatipoglu, L O'Flaherty, N Ternette… - Cancer cell, 2011 - cell.com
The Krebs cycle enzyme fumarate hydratase (FH) is a human tumor suppressor whose
inactivation is associated with the development of leiomyomata, renal cysts, and tumors. It …