نتایج جستجو برای: vhl

تعداد نتایج: 1947  

Journal: :Cancer research 2014
Sophie Couvé Charline Ladroue Elodie Laine Karène Mahtouk Justine Guégan Sophie Gad Hélène Le Jeune Marion Le Gentil Gregory Nuel William Y Kim Bernard Lecomte Jean-Christophe Pagès Christine Collin Françoise Lasne Patrick R Benusiglio Brigitte Bressac-de Paillerets Jean Feunteun Vladimir Lazar Anne-Paule Gimenez-Roqueplo Nathalie M Mazure Philippe Dessen Luba Tchertanov David R Mole William Kaelin Peter Ratcliffe Stéphane Richard Betty Gardie

The classic model of tumor suppression implies that malignant transformation requires full "two-hit" inactivation of a tumor-suppressor gene. However, more recent work in mice has led to the proposal of a "continuum" model that involves more fluid concepts such as gene dosage-sensitivity and tissue specificity. Mutations in the tumor-suppressor gene von Hippel-Lindau (VHL) are associated with a...

Journal: :Human molecular genetics 2001
M A Hoffman M Ohh H Yang J M Klco M Ivan W G Kaelin

von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germ line mutation of the von Hippel-Lindau tumor suppressor gene (VHL). Tumors observed in this disorder include retinal and central nervous system hemangioblastomas, clear cell renal carcinomas and pheochromocytomas. The VHL gene product, pVHL, is a component of a ubiquitin ligase which targets the transcription factor ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2006
Benedetta Peruzzi Gagani Athauda Donald P Bottaro

Loss of von Hippel-Lindau (VHL) tumor suppressor gene function occurs in familial and most sporadic clear cell renal cell carcinoma (RCC), resulting in the aberrant expression of genes that control cell proliferation, invasion, and angiogenesis. The molecular mechanisms by which VHL loss leads to tumorigenesis are not yet fully defined. VHL loss has been shown to allow robust RCC cell motility,...

2017
Xu-Ting Zhi Qi-Yu Bo Feng Zhao Dong Sun Tao Li

RATIONALE Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. VHL patients are prone to develop benign and malignant tumors and cysts in multiple organ systems involving kidneys, pancreas and central nervous system (CNS). The varied and complex clinical manifestations and radiological findings of VHL are of ...

Journal: :Molecular cancer research : MCR 2003
Yide Jiang Wen Zhang Keichii Kondo Jeffery M Klco Thia B St Martin Michael R Dufault Stephen L Madden William G Kaelin Mariana Nacht

The von Hippel-Lindau tumor suppressor, pVHL, is a key player in one of the best characterized hypoxia signaling pathways, the VHL-hypoxia-inducible factor (VHL-HIF) pathway. To better understand the role of VHL in the hypoxia signaling pathways of tumor cells, we used serial analysis of gene expression (SAGE) to investigate hypoxia-regulated gene expression in renal carcinoma cells (786-0), wi...

2016
Stéphane Oudard Reza Elaidi Mara Brizard Céline Le Rest Valérie Caillet Sophie Deveaux Gérard Benoit Jean-Michel Corréas Farida Benoudiba Philippe David Alain Gaudric Pascal Hammel Dominique Joly Marc Olivier Timsit Arnaud Méjean Stéphane Richard

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes affected individuals to the development of multiple benign and malignant tumors. One of the main manifestations of VHL is renal cell carcinoma (RCC). RCC is increasingly being treated with targeted therapies, which offer an alternative treatment option for patients with VHL disease. This study i...

Journal: :Cancer research 1998
H Moch P Schraml L Bubendorf J Richter T C Gasser M J Mihatsch G Sauter

Although chromosome 3p deletions are considered an initial event in clear cell renal cell carcinoma (RCC), the reported prevalence of 3p deletions is highly variable. Because molecular analyses may be influenced by intratumoral heterogeneity, this study was performed to evaluate the genetic heterogeneity of the von Hippel-Lindau (VHL) gene (on 3p25.5) in RCC. Fifty-three clear cell and papillar...

2017
Jiang-Yi Wang Shuang-He Peng Xiang-Hui Ning Teng Li Sheng-Jie Liu Jia-Yuan Liu Bao-An Hong Nie-Nie Qi Xiang Peng Bo-Wen Zhou Jiu-Feng Zhang Lin Cai Kan Gong

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene. Patients are predisposed to develop pheochromocytomas and solid or cystic tumors of the central nervous system, kidney, pancreas, and retina. Remarkable phenotypic heterogeneity exits in organ involvement and tumor onset age between and within VHL families. However, no reliable marker...

Journal: :Cancer research 1998
B Lieubeau-Teillet J Rak S Jothy O Iliopoulos W Kaelin R S Kerbel

Previous results using gene transfection methods have shown that the wild-type (WT) von Hippel-Lindau (VHL) gene can function as a potent tumor suppressor gene in vivo for renal cell carcinoma (RCC) cells in the absence of any suppressive effect on cell growth in monolayer cell culture under serum-rich conditions. Because we had previously found that the function of some oncogenes, such as muta...

2014
Zhiyong Ding Peter German Shanshan Bai Zhehui Feng Meng Gao Wendy Si Mary M. Sobieski Clifford C. Stephan Gordon B. Mills Eric Jonasch Arvid Lindau

Background—von Hippel Lindau (VHL) disease is an autosomal dominant inherited disorder that results in multiple organ systems being affected. Treatment is mainly surgical, however, effective systemic therapies are needed. We developed and tested a cell-based screening tool to identify compounds that stabilize or upregulate full-length, point mutated VHL. Methods—The 786-0 cell line was infected...

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