Von Hippel-Lindau disease: current challenges and future prospects

S Gläsker, E Vergauwen, CA Koch… - OncoTargets and …, 2020 - Taylor & Francis
von Hippel-Lindau (VHL) disease. This autosomal dominant … The diseased VHL kidney is
characterized by renal cysts and … as VHL gene-inactivated pancreatic cysts; most cysts were of …

Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics

L Gómez-Virgilio, M Velazquez-Paniagua… - 2024 - preprints.org
… with functional inactivation of the Von HippelLindau protein … A mouse model that conditionally
inactivated VHL in … cell carcinomas (P=0.0001), renal cysts (P=0.027), and pancreatic …

Von HippelLindau disease: insights into oxygen sensing, protein degradation, and cancer

WG Kaelin - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
… of the VHL tumor suppressor gene cause von HippelLindau … VHL families are said to have
type 1 disease if they display a … VHL inactivation causes renal cysts in mice and humans, but …

Diseases of hereditary renal cell cancers

O Iliopoulos - Urologic Clinics, 2023 - urologic.theclinics.com
… with a clinical diagnosis of Von HippelLindau (VHL) disease … The VHL gene is inactivated
in both VHL disease-associated … Renal cysts may present radiographically as simple cysts

von Hippel-Lindau disease: an update

ER Maher, RN Sandford - Current Genetic Medicine Reports, 2019 - Springer
inactivation occurring in most clear cell RCC and in tumours … in multiple renal cysts and
tumours (similar to kidneys in VHL … The von Hippel-Lindau tumor-suppressor gene product forms …

Targeted deletion of von-Hippel-Lindau in the proximal tubule conditions the kidney against early diabetic kidney disease

M Kunke, H Knöfler, E Dahlke… - Cell Death & …, 2023 - nature.com
development and progression of DKD and shall be clarified in our study. PT-von-Hippel-Lindau
(Vhl)-deleted mouse … To study if changes in the PT in addition to glomerular structures …

Deletion of von hippellindau interferes with hyper osmolality induced gene expression and induces an unfavorable gene expression pattern

A Groß, D Chernyakov, L Gallwitz, N Bornkessel… - Cancers, 2020 - mdpi.com
kidney cystic disease [3]. Moreover, genetic risk factors are involved in the pathogenesis of
RCC including the von HippelLindau … generate ccRCC in mouse kidneys by inactivating Vhl. …

The Molecular Underpinnings of Wild-Type Von Hippel-Lindau Clear Cell Renal Cell Carcinoma

AA Batavia - 2022 - research-collection.ethz.ch
… of wild-type von Hippel-Lindau renal cell carcinoma with clear cell … The biallelic inactivation
of VHL can result from the … as identified in the tumour to determine if both events are …

Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata

M Ohh, CC Taber, FG Ferens, D Tarade - Elife, 2022 - elifesciences.org
von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that causes a
predisposition to renal clear-cell carcinoma, hemangioblastoma, pheochromocytoma, and …

The role of VHL in the development of von Hippel-Lindau disease and erythrocytosis

P Hudler, M Urbancic - Genes, 2022 - mdpi.com
… The von Hippel-Lindau tumor suppressor gene (VHL) is … The HIF signaling pathway is most
frequently activated by inactivating … Benign renal cysts and malignant RCC are present in two-…