[HTML][HTML] von Hippel–Lindau disease: A clinical and scientific review

ER Maher, HPH Neumann, S Richard - European Journal of Human …, 2011 - nature.com
The autosomal dominantly inherited disorder von Hippel–Lindau disease (VHL) is caused
by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations …

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes

AP Gimenez-Roqueplo, PL Dahia… - Hormone and …, 2012 - thieme-connect.com
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are catecholamine-secreting
tumors of neural crest origin. Once collectively known as the '10% tumor', based on the …

[图书][B] Pathology and genetics of tumours of endocrine organs

RA DeLellis - 2004 - books.google.com
This volume covers tumors of the pituary, the thyroid and parathyroid, the adrenal gland, the
endocrine pancreas, and inherited tumor syndromes. Each entity is extensively discussed …

Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel–Lindau protein

M Ohh, CW Park, M Ivan, MA Hoffman, TY Kim… - Nature cell …, 2000 - nature.com
Abstract von Hippel–Lindau (VHL) disease is a hereditary cancer syndrome that is
characterized by the development of multiple vascular tumors and is caused by inactivation …

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

CE Stebbins, WG Kaelin Jr, NP Pavletich - Science, 1999 - science.org
Mutation of the VHL tumor suppressor is associated with the inherited von Hippel–Lindau
(VHL) cancer syndrome and the majority of kidney cancers. VHL binds the ElonginC …

Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C

A Kibel, O Iliopoulos, JA DeCaprio, WG Kaelin Jr - Science, 1995 - science.org
Germ-line mutations of the von Hippel-Lindau tumor suppressor gene (VHL) predispose
individuals to a variety of human tumors, and somatic mutations of this gene have been …

The natural history of hemangioblastomas of the central nervous system in patients with von Hippel—Lindau disease

JE Wanebo, RR Lonser, GM Glenn, EH Oldfield - Journal of neurosurgery, 2003 - thejns.org
Object. The goals of this study were to define the natural history and growth pattern of
hemangioblastomas of the central nervous system (CNS) that are associated with von …

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

CJ Ricketts, JR Forman, E Rattenberry… - Human …, 2010 - Wiley Online Library
Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …

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 …

Von hippel-lindau disease

WG Kaelin Jr - Annu. Rev. Pathol. Mech. Dis., 2007 - annualreviews.org
Abstract von Hippel-Lindau disease, which is characterized by an increased risk of
hemangioblastomas, clear cell renal carcinomas, and pheochromocytomas, is caused by …