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https://www.readbyqxmd.com/read/28632992/targeting-the-rhogtpase-rock-pathway-for-the-treatment-of-vhl-hif-pathway-driven-cancers
#1
Jordan M Thompson, Jaime Landman, Olga V Razorenova
The loss of the von Hippel-Lindau (VHL) tumor-suppressor is a major driver of Clear Cell Renal Cell Carcinoma (CC-RCC) resulting in the stabilization and overactivation of hypoxia inducible factors (HIFs). ROCK 1 is a well-known protein serine/threonine kinase which is recognized as having a role in cancer including alterations in cell motility, metastasis and angiogenesis. As a function of the later effect, we recently investigated and identified a synthetic lethal interaction between VHL loss and ROCK1 inhibition in CC-RCC that is dependent on HIF overactivation...
June 20, 2017: Small GTPases
https://www.readbyqxmd.com/read/28630796/von-hippel-lindau-disease-the-importance-of-retinal-hemangioblastomas-in-diagnosis
#2
Sevinç Şahin Atik, Aslı Ece Solmaz, Zafer Öztaş, Emine Deniz Eğrilmez, Şeyda Uğurlu, Tahir Atik, Filiz Afrashi
Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal hemangioblastomas are usually the initial manifestation of VHL disease and can cause vision loss. A 32-year-old man presented to our clinic with vision loss in the left eye for 2 months. He had a history of cerebral hemangioblastoma operation. Family history showed that his mother had unilateral vision loss and died because of renal cell carcinoma. Ophthalmologic examination revealed multiple retinal hemangioblastomas in both eyes...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630416/hif-1-mediated-suppression-of-mitochondria-electron-transport-chain-function-confers-resistance-to-lidocaine-induced-cell-death
#3
Akihisa Okamoto, Chisato Sumi, Hiromasa Tanaka, Munenori Kusunoki, Teppei Iwai, Kenichiro Nishi, Yoshiyuki Matsuo, Hiroshi Harada, Keizo Takenaga, Hidemasa Bono, Kiichi Hirota
The local anesthetic lidocaine induces cell death by altering reactive oxygen species (ROS) generation and mitochondrial electron transport chain function. Because hypoxia-inducible factor 1 (HIF-1) is involved in determining oxygen metabolism and mitochondria function, we investigated the involvement of HIF-1 activity in lidocaine-induced cell death. We investigated the role of HIF activation on lidocaine-induced caspase activation and cell death in renal cell-derived RCC4 cells lacking functional von Hippel-Lindau (VHL) protein...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28624320/prognostic-value-of-the-vhl-hif-1%C3%AE-and-vegf-signaling-pathway-and-associated-mapk-erk1-2-and-erk5-pathways-in-clear-cell-renal-cell-carcinoma-a-long-term-study
#4
Antonio S Salinas-Sánchez, Leticia Serrano-Oviedo, Syongh Y Nam-Cha, Olga Roche-Losada, Ricardo Sánchez-Prieto, José M Giménez-Bachs
BACKGROUND: The prognostic value of molecular markers in renal cell carcinoma has been investigated in several studies. Although their value is still not confirmed, various proteins are important. We describe the effect on long-term survival of the status of the von Hippel-Lindau (VHL) hypoxia-inducible factor 1-α (HIF1-α) signaling pathway as well as associated mitogen-activated protein kinase (extracellular signal-regulated kinase [ERK]1/2 and ERK5). PATIENTS AND METHODS: A prospective, longitudinal cohort study was conducted with 50 patients diagnosed with clear-cell renal cell carcinoma to analyze VHL mutations and hypermethylation as well as VHL, HIF1-α, vascular endothelial growth factor (VEGF), ERK1/2, and ERK5 protein expression...
May 25, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28620558/primary-renal-carcinoid-with-bilateral-multiple-clear-cell-papillary-renal-cell-carcinomas
#5
Daniel A Anderson, Maria S Tretiakova
Clear cell papillary renal cell carcinoma (CCPRCC) is a newly recognized entity in the 2016 WHO classification and usually presents as a small, circumscribed, solitary mass of indolent nature. CCPRCCs could seldom occur in conjunction with other synchronous or metachronous kidney tumors and even less frequently as bilateral masses. To our knowledge, multiple bilateral CCPRCCs have never been described with the existence of a synchronous well-differentiated neuroendocrine tumor of the kidney and hence reported here as a unique case...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28620133/the-pvhl172-isoform-is-not-a-tumor-suppressor-and-up-regulates-a-subset-of-pro-tumorigenic-genes-including-tgfb1-and-mmp13
#6
P Hascoet, F Chesnel, F Jouan, C Le Goff, A Couturier, E Darrigrand, F Mahé, N Rioux-Leclercq, X Le Goff, Y Arlot-Bonnemains
The von Hippel-Lindau (VHL) tumor suppressor gene is often deleted or mutated in ccRCC (clear cell renal cell carcinoma) producing a non-functional protein. The gene encodes two mRNA, and three protein isoforms (pVHL213, pVHL160 and pVHL172). The pVHL protein is part of an E3 ligase complex involved in the ubiquitination and proteasomal degradation of different proteins, particularly hypoxia inducible factors (HIF) that drive the transcription of genes involved in the regulation of cell proliferation, angiogenesis or extracellular matrix remodelling...
June 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28620007/von-hippel-lindau-and-hereditary-pheochromocytoma-paraganglioma-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#7
REVIEW
Surya P Rednam, Ayelet Erez, Harriet Druker, Katherine A Janeway, Junne Kamihara, Wendy K Kohlmann, Katherine L Nathanson, Lisa J States, Gail E Tomlinson, Anita Villani, Stephan D Voss, Joshua D Schiffman, Jonathan D Wasserman
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28614802/mitochondrial-dysregulation-and-glycolytic-insufficiency-functionally-impair-cd8-t-cells-infiltrating-human-renal-cell-carcinoma
#8
Peter J Siska, Kathryn E Beckermann, Frank M Mason, Gabriela Andrejeva, Allison R Greenplate, Adam B Sendor, Yun-Chen J Chiang, Armando L Corona, Lelisa F Gemta, Benjamin G Vincent, Richard C Wang, Bumki Kim, Jiyong Hong, Chiu-Lan Chen, Timothy N Bullock, Jonathan M Irish, W Kimryn Rathmell, Jeffrey C Rathmell
Cancer cells can inhibit effector T cells (Teff) through both immunomodulatory receptors and the impact of cancer metabolism on the tumor microenvironment. Indeed, Teff require high rates of glucose metabolism, and consumption of essential nutrients or generation of waste products by tumor cells may impede essential T cell metabolic pathways. Clear cell renal cell carcinoma (ccRCC) is characterized by loss of the tumor suppressor von Hippel-Lindau (VHL) and altered cancer cell metabolism. Here, we assessed how ccRCC influences the metabolism and activation of primary patient ccRCC tumor infiltrating lymphocytes (TIL)...
June 15, 2017: JCI Insight
https://www.readbyqxmd.com/read/28601978/recurrent-or-symptomatic-residual-posterior-fossa-hemangioblastomas-how-are-they-different-from-their-primary-counterparts
#9
Shruti Gupta, Lily Pal, Jayesh C Sardhara, Awadhesh K Jaiswal, Arun Srivastava, Anant Mehrotra, Kuntal Kanti Das, Sanjay Behari
BACKGROUND: Posterior fossa hemangioblastomas are WHO grade I benign lesions with a surprisingly high recurrence rate. This study determines the factors responsible for recurrence and the clinico-radiological and histopathological differences between primary (group A; n = 60) and recurrent/symptomatic residual (group B; n = 24) tumors. METHODS: Radiologically, tumors were differentiated into cystic, cystic with a mural nodule, solid-cystic/microcystic and solid...
June 11, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28589383/von-hippel-lindau-disease-a-single-gene-several-hereditary-tumors
#10
REVIEW
J Crespigio, L C L Berbel, M A Dias, R F Berbel, S S Pereira, D Pignatelli, T L Mazzuco
The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with different phenotypes from family to family, affecting different organs during the lifetime. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina, renal carcinomas and cysts, bilateral pheochromocytomas, cystic and solid tumors of the pancreas, cystadenomas of the epididymis, and endolymphatic sac tumors...
June 6, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28582447/action-of-ym155-on-clear-cell-renal-cell-carcinoma-does-not-depend-on-survivin-expression-levels
#11
Mei Yi Sim, Hung Huynh, Mei Lin Go, John Shyi Peng Yuen
The dioxonapthoimidazolium YM155 is a survivin suppressant which has been investigated as an anticancer agent in clinical trials. Here, we investigated its growth inhibitory properties on a panel of immortalized and patient derived renal cell carcinoma (RCC) cell lines which were either deficient in the tumour suppressor von Hippel-Lindau (VHL) protein or possessed a functional copy. Neither the VHL status nor the survivin expression levels of these cell lines influenced their susceptibility to growth inhibition by YM155...
2017: PloS One
https://www.readbyqxmd.com/read/28580172/ralbp1-and-p19-vhl-play-an-oncogenic-role-and-p30-vhl-plays-a-tumor-suppressor-role-during-the-blebbishield-emergency-program
#12
Goodwin G Jinesh, Ashish M Kamat
Cancer stem cells evade apoptotic death by blebbishield emergency program, which constructs blebbishields from apoptotic bodies and drives cellular transformation. Von Hippel-Lindau (VHL) plays both tumor suppressor and oncogenic roles, and the reason behind is poorly understood. Here we demonstrate that dimers and trimers of p19-VHL interact with RalBP1 to construct blebbishields. Expression of RalBP1, p19-VHL, and high-molecular weight VHL is required to evade apoptosis by blebbishield-mediated transformation...
2017: Cell Death Discovery
https://www.readbyqxmd.com/read/28574654/neuroprotective-effects-respond-to-cerebral-ischemia-without-susceptibility-to-hb-tumorigenesis-in-vhl-heterozygous-knockout-mice
#13
Ying Wang, Jingyun Yang, Guhong Du, Dexuan Ma, Liangfu Zhou
The von Hippel-Lindau (VHL) tumor suppressor gene plays a prominent role in the development of hemangioblastomas (HBs) within specific regions of the human' central nervous system (CNS). Alterations in VHL gene are rarely observed in the more common features of human VHL-related tumors in animal models, and VHL heterozygous knockout (VHL + / -) mice do not develop HBs. We tested whether VHL heterozygous knockout mice exhibited genetic predisposition to the development of HBs and conferred a selective advantage involving growth of blood vessels to its carrier...
June 2, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28574600/diallyl-trisulfides-a-natural-histone-deacetylase-inhibitor-attenuate-hif-1%C3%AE-synthesis-and-decreases-breast-cancer-metastasis
#14
Zhonghong Wei, Yunlong Shan, Li Tao, Yuping Liu, Zhijie Zhu, Zhaoguo Liu, Yuanyuan Wu, Wenxing Chen, Aiyun Wang, Yin Lu
Intratumoral hypoxia promotes the distant metastasis of cancer subclones. The clinical expression level of hypoxia-inducible factor-1α (HIF-1α) reflects the prognosis of a variety of cancers, especially breast cancer. Histone deacetylase (HDAC) inhibitors can target HIF-1α protein due to von Hippel-Lindau protein-dependent degradation. Dietary organosulfur compounds, such as those in garlic, have been reported as HDAC inhibitors. The effects of diallyl sulfide (DAS), diallyl disulfide (DADS) and diallyl trisulfide (DATS) on the ratio of firefly/Renilla luciferase activity in hypoxic MDA-MB-231 cells were determined...
June 2, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28570326/renal-disease-and-neurology
#15
Sara E Hocker
PURPOSE OF REVIEW: Neurologic dysfunction is prevalent in patients with acute and chronic renal disease and may affect the central nervous system, peripheral nervous system, or both. Neurologic manifestations may result directly from the uremic state or as a consequence of renal replacement therapy. Early recognition of neurologic dysfunction may provide opportunities for intervention and reduced morbidity. RECENT FINDINGS: Advances in the understanding of neurologic complications of renal disease and its treatments have led to more widespread recognition and earlier identification of encephalopathy syndromes such as cefepime neurotoxicity and posterior reversible encephalopathy syndrome (PRES), dramatic reductions in the incidence of dialysis disequilibrium syndrome and dialysis dementia, and improved survival in disorders such as von Hippel-Lindau disease and thrombotic thrombocytopenic purpura...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28567709/renal-cell-cancers-unveiling-the-hereditary-ones-and-saving-lives-a-tailored-diagnostic-approach
#16
REVIEW
Georgios Kallinikas, Helai Habib, Dimitrios Tsimiliotis, Evangelos Koutsokostas, Barna Bokor
The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening...
May 31, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28561652/evolving-treatment-paradigm-in-metastatic-renal-cell-carcinoma
#17
David M Gill, Neeraj Agarwal, Ulka Vaishampayan
The treatment paradigm for advanced and metastatic renal cell carcinoma (mRCC) has evolved rapidly since the arrival of targeted therapies and novel immunotherapies. mRCC was previously treated only with cytokines. However, discoveries of mutations affecting the von Hippel-Lindau tumor suppressor gene (leading to increased expression of VEGF and hypoxia inducible factor/HIF-1) and of deregulations in the phosphatidylinositol-3 kinase/AKT/mTOR pathway (resulting in tumor angiogenesis, cell proliferation, and tumor growth) have led to the development of numerous targeted therapies...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28558182/posterior-pole-and-peripheral-retinal-fibrovascular-proliferation-in-von-hippel-lindau-disease
#18
Ebrahim Elborgy, Jose S Pulido
PURPOSE: To report the occurrence of fibrovascular proliferation (FVP) in the retina in von Hippel-lindau (VHl) patients and its association with prior treatment. DESIGN: A retrospective study. METHODS: A retrospective study of 101 VHL patients. Fundus photos were available for 28 patients. FVP was classified into peripheral and posterior pole. RESULTS: All 28 patients had retinal capillary hemangioblastomas (RCH) in 1 or both eyes; 15 patients were found to have FVP (group A), whereas 13 patients did not (group B)...
May 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28553932/combined-mutation-in-vhl-trp53-and-rb1-causes-clear-cell-renal-cell-carcinoma-in-mice
#19
Sabine Harlander, Désirée Schönenberger, Nora C Toussaint, Michael Prummer, Antonella Catalano, Laura Brandt, Holger Moch, Peter J Wild, Ian J Frew
Clear cell renal cell carcinomas (ccRCCs) frequently exhibit inactivation of the von Hippel-Lindau tumor-suppressor gene, VHL, and often harbor multiple copy-number alterations in genes that regulate cell cycle progression. We show here that modeling these genetic alterations by combined deletion of Vhl, Trp53 and Rb1 specifically in renal epithelial cells in mice caused ccRCC. These tumors arose from proximal tubule epithelial cells and shared molecular markers and mRNA expression profiles with human ccRCC...
May 29, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28549422/expression-of-von-hippel-lindau-tumor-suppressor-protein-pvhl-characteristic-of-tongue-cancer-and-proliferative-lesions-in-tongue-epithelium
#20
Hisashi Hasegawa, Yoshiaki Kusumi, Takeshi Asakawa, Miyoko Maeda, Toshinori Oinuma, Tohru Furusaka, Takeshi Oshima, Mariko Esumi
BACKGROUND: Patients with tongue cancer frequently show loss of heterozygosity (LOH) of the von Hippel-Lindau (VHL) tumor suppressor gene. However, expression of VHL protein (pVHL) in tongue cancer has rarely been investigated and remains largely unknown. We performed immunohistochemical staining of pVHL in tongue tissues and dysplasia, and examined the association with LOH and its clinical significance. METHODS: Immunohistochemical staining of pVHL in formalin-fixed, paraffin-embedded sections of cancerous and other tissues from 19 tongue cancer patients showed positivity for LOH of VHL in four samples, negativity in four samples, and was non-informative in 11 samples...
May 26, 2017: BMC Cancer
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