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 …

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 …

When cilia go bad: cilia defects and ciliopathies

M Fliegauf, T Benzing, H Omran - Nature reviews Molecular cell biology, 2007 - nature.com
Defects in the function of cellular organelles such as peroxisomes, lysosomes and
mitochondria are well-known causes of human diseases. Recently, another organelle has …

The von Hippel–Lindau tumour suppressor protein: O2 sensing and cancer

WG Kaelin Jr - Nature Reviews Cancer, 2008 - nature.com
Abstract The von Hippel–Lindau disease is caused by inactivating germline mutations of the
VHL tumour suppressor gene and is associated with an increased risk of a variety of …

Regulating the transition from centriole to basal body

T Kobayashi, BD Dynlacht - Journal of Cell Biology, 2011 - rupress.org
The role of centrioles changes as a function of the cell cycle. Centrioles promote formation of
spindle poles in mitosis and act as basal bodies to assemble primary cilia in interphase …

VHL and HIF signalling in renal cell carcinogenesis

MM Baldewijns, IJH van Vlodrop… - The Journal of …, 2010 - Wiley Online Library
Hypoxia‐inducible factor (HIF) plays an important role in renal tumourigenesis. In the
majority of clear cell RCC (ccRCC), the most frequent and highly vascularized RCC subtype …

Genetic analysis of von Hippel‐Lindau disease

M Nordstrom‐O'Brien, RB van der Luijt… - Human …, 2010 - Wiley Online Library
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 …

FLCN: the causative gene for Birt-Hogg-Dubé syndrome

LS Schmidt, WM Linehan - Gene, 2018 - Elsevier
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the
autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to …

A clearer view of the molecular complexity of clear cell renal cell carcinoma

IJ Frew, H Moch - Annual Review of Pathology: Mechanisms of …, 2015 - annualreviews.org
The von Hippel–Lindau (VHL) tumor suppressor gene is mutated as an early event in almost
all cases of clear cell renal cell carcinoma (ccRCC), the most frequent form of kidney cancer …

Pancreatic cancer and precursor pancreatic intraepithelial neoplasia lesions are devoid of primary cilia

ES Seeley, C Carrière, T Goetze, DS Longnecker… - Cancer research, 2009 - AACR
Primary cilia have been proposed to participate in the modulation of growth factor signaling
pathways. In this study, we determined that ciliogenesis is suppressed in both pancreatic …