keyword
MENU ▼
Read by QxMD icon Read
search

von hippel lindau

keyword
https://www.readbyqxmd.com/read/28087080/-retinal-capillary-hemangioblastoma-in-von-hippel-lindau-disease
#1
F Benotmane, M Ez-Zahraoui, O Lezrek, O Charhi, I Ben Dali, M Laghmari, R Daoudi
No abstract text is available yet for this article.
January 10, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28072736/von-hippel-lindau-disease-involving-pancreas-and-biliary-system-a-rare-case-report
#2
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 interest. PATIENT CONCERNS: We report a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28070114/development-of-database-and-genomic-medicine-for-von-hippel-lindau-disease-in-japan
#3
Shunsaku Takayanagi, Akitake Mukasa, Hirofumi Nakatomi, Hiroshi Kanno, Jun-Ichi Kuratsu, Ryo Nishikawa, Kazuhiko Mishima, Atushi Natsume, Toshihiko Wakabayashi, Kiyohiro Houkin, Shunsuke Terasaka, Masahiro Yao, Nobuo Shinohara, Taro Shuin, Nobuhito Saito
von Hippel-Lindau (VHL) disease is a hereditary tumor disease in which tumors develop in multiple organs, not only as hemangioblastomas (HBs) in the central nervous system, but also as kidney tumors, pheochromocytomas, and so on. Much about the epidemiology of VHL disease remained unknown until fairly recently in Japan, leading to calls for the establishment of a VHL disease epidemiological database in Japanese. To elucidate its epidemiology in Japan, the Japanese Ministry of Health, Labour and Welfare created the VHL Disease Study Group, which was put in charge of carrying out a nationwide epidemiological survey...
January 6, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28052007/vhl-missense-mutations-in-the-p53-binding-domain-show-different-effects-on-p53-signaling-and-hif%C3%AE-degradation-in-clear-cell-renal-cell-carcinoma
#4
Caroline Fanja Razafinjatovo, Daniel Stiehl, Eva Deininger, Markus Rechsteiner, Holger Moch, Peter Schraml
Clear cell Renal Cell Carcinoma (ccRCC) formation is connected to functional loss of the von Hippel-Lindau (VHL) gene. Recent data identified its gene product, pVHL, as a multifunctional adaptor protein which interacts with HIFα subunits but also with the tumor suppressor p53. p53 is hardly expressed and rarely mutated in most ccRCC. We showed that low and absent p53 expression correlated with the severity of VHL mutations in 262 analyzed ccRCC tissues. In contrast to nonsense and frameshift mutations which abrogate virtually all pVHL functions, missense mutations may rather influence one or few functions...
December 30, 2016: Oncotarget
https://www.readbyqxmd.com/read/28041328/image-guided-stereotactic-radiosurgery-for-treatment-of-spinal-hemangioblastoma
#5
James Pan, Allen L Ho, Myreille D'Astous, Eric S Sussman, Patricia A Thompson, Armine T Tayag, Louisa Pangilinan, Scott G Soltys, Iris C Gibbs, Steven D Chang
OBJECTIVE Stereotactic radiosurgery (SRS) has been an attractive treatment option for hemangioblastomas, especially for lesions that are surgically inaccessible and in patients with von Hippel-Lindau (VHL) disease and multiple lesions. Although there has been a multitude of studies examining the utility of SRS in intracranial hemangioblastomas, SRS has only recently been used for spinal hemangioblastomas due to technical limitations. The purpose of this study is to provide a long-term evaluation of the effectiveness of image-guided radiosurgery in halting tumor progression and providing symptomatic relief for spinal hemangioblastomas...
January 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28036268/role-of-vhl-hif1a-and-sdh-on-the-expression-of-mir-210-implications-for-tumoral-pseudo-hypoxic-fate
#6
Anna Merlo, Cristóbal Bernardo-Castiñeira, Inés Sáenz-de-Santa-María, Ana S Pitiot, Milagros Balbín, Aurora Astudillo, Nuria Valdés, Bartolomé Scola, Raquel Del Toro, Simón Méndez-Ferrer, José I Piruat, Carlos Suarez, María-Dolores Chiara
The hypoxia-inducible factor 1α (HIF-1α) and its microRNA target, miR-210, are candidate tumor-drivers of metabolic reprogramming in cancer. Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1α stabilization. However, the role of miR-210 in the pathogenesis of SDH-related tumors remains an unmet challenge...
December 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/28036256/uv-induced-proteolysis-of-rna-polymerase-ii-is-mediated-by-vcp-p97-segregase-and-timely-orchestration-by-cockayne-syndrome-b-protein
#7
Jinshan He, Qianzheng Zhu, Gulzar Wani, Altaf A Wani
RNA polymerase II (RNAPII) acts as a damage sensor for transcription-coupled nucleotide excision repair (TC-NER) and undergoes proteolytic clearance from damaged chromatin by the ubiquitin-proteasome system (UPS). Here, we report that Valosin-containing protein (VCP)/p97, a druggable oncotarget, is essential for RNAPII's proteolytic clearance in mammalian cells. We show that inhibition of VCP/p97, or siRNA-mediated ablation of VCP/p97 and its cofactors UFD1 and UBXD7 severely impairs ultraviolet radiation (UVR)-induced RNAPII degradation...
December 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/28033220/18f-fdg-and-68ga-dotatate-pet-ct-in-von-hippel-lindau-disease-associated-retinal-hemangioblastoma
#8
Georgios Z Papadakis, Corina Millo, Inderbir S Jassel, Ulas Bagci, Samira M Sadowski, Apostolos H Karantanas, Nicholas J Patronas
Retinal hemangioblastomas are highly vascular benign tumors that can be encountered either sporadically or within the von Hippel-Lindau (VHL) syndrome. We report a case of a VHL patient with retinal hemangioblastoma who underwent PET/CT scans using F-FDG and Ga-DOTATATE. The tumor showed low-level F-FDG and increased Ga-DOTATATE activity, suggesting cell-surface overexpression of somatostatin receptors. The presented case indicates the clinical applications of somatostatin receptor imaging with Ga-DOTA-conjugated peptides in detection and follow-up of VHL manifestations, screening of asymptomatic gene carriers, and in diagnosis of sporadic retinal hemangioblastomas, which may have similar features on MRI with other retinal tumors...
December 28, 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28006088/case-of-parotid-mucoepidermoid-carcinoma-expanding-the-spectrum-of-von-hippel-lindau-related-neoplasms
#9
Michael H Berger, Darcy A Kerr, Artur E Rangel Filho, Zoukaa B Sargi
BACKGROUND: von Hippel-Lindau (VHL)-related tumors occurring outside the spectrum of VHL-defining tumors are rare, and mucoepidermoid carcinoma (MEC) in the setting of VHL disease has not been described. METHODS AND RESULTS: We describe a patient with confirmed VHL mutation who presented with a parotid mass and a history of 2 central nervous system (CNS) hemangioblastomas and 1 pheochromocytoma. Fine-needle aspiration (FNA) of the mass suggested a benign Warthin tumor...
December 22, 2016: Head & Neck
https://www.readbyqxmd.com/read/28004973/beta-2-glycoprotein-1-and-alpha-1-antitrypsin-as-urinary-markers-of-renal-cancer-in-von-hippel-lindau-patients
#10
Giorgia Mandili, Agata Notarpietro, Amina Khadjavi, Marco Allasia, Antonino Battaglia, Barbara Lucatello, Bruno Frea, Francesco Turrini, Francesco Novelli, Giuliana Giribaldi, Paolo Destefanis
CONTEXT: Von Hippel-Lindau disease (VHLD) is a rare inherited neoplastic syndrome. Among all the VHLD-associated tumors, clear cell renal cell carcinoma (ccRCC) is the major cause of death. OBJECTIVE: The aim of this paper is the discovery of new non-invasive biomarker for the monitoring of VHLD patients. MATERIALS AND METHODS: We compared the urinary proteome of VHLD patients, ccRCC patients and healthy volunteers. RESULTS: Among all differentially expressed proteins, alpha-1-antitrypsin (A1AT) and APOH (beta-2-glycoprotein-1) are strongly over-abundant only in the urine of VHLD patients with a history of ccRCC...
December 22, 2016: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/27997886/the-clinicopathological-significance-of-epigenetic-silencing-of-vhl-promoter-and-renal-cell-carcinoma-a-meta-analysis
#11
Lei Yang, Ziyi Zhao, Shasha Zhao, Chen Chen, Xiaofeng Cong, Zhi Li, Meng Ren
BACKGROUND/AIMS: Von Hippel-Lindau gene (VHL) has been reported as a tumor-suppressor gene in some cancers. However, the association between VHL promoter hypermethylation and renal cell carcinoma (RCC) remains to be clarified. We are the first to systematically integrate published papers to assess the role of hypermethylated VHL in RCC. METHODS: The potential relevant papers were searched via PubMed, Embase, EBSCO, CNKI, and Wanfang databases. The overall odds ratio (OR) and corresponding 95% confidence interval (95% CI) were calculated to evaluate the relationship between VHL promoter hypermethylation and RCC...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27994971/discovery-of-novel-inhibitors-disrupting-hif-1%C3%AE-von-hippel-lindau-interaction-through-shape-based-screening-and-cascade-docking
#12
Xin Xue, Ning-Yi Zhao, Hai-Tao Yu, Yuan Sun, Chen Kang, Qiong-Bin Huang, Hao-Peng Sun, Xiao-Long Wang, Nian-Guang Li
Major research efforts have been devoted to the discovery and development of new chemical entities that could inhibit the protein-protein interaction between HIF-1α and the von Hippel-Lindau protein (pVHL), which serves as the substrate recognition subunit of an E3 ligase and is regarded as a crucial drug target in cancer, chronic anemia, and ischemia. Currently there is only one class of compounds available to interdict the HIF-1α/pVHL interaction, urging the need to discover chemical inhibitors with more diversified structures...
2016: PeerJ
https://www.readbyqxmd.com/read/27982764/spinal-cord-hemangioblastomas-significance-of-intraoperative-neurophysiological-monitoring-for-resection-and-long-term-outcome
#13
Sebastian Siller, Andrea Szelényi, Lisa Herlitz, Joerg Christian Tonn, Stefan Zausinger
OBJECTIVE Spinal cord hemangioblastomas are rare benign tumors developing either sporadically or as part of von Hippel-Lindau (VHL) disease. Generally, resection is the treatment of choice. However, the significance of intraoperative neurophysiological monitoring (IONM) for resection and postoperative outcome is still controversial. The authors analyzed the surgical and clinical courses of patients who had undergone resection of spinal cord hemangioblastoma, with special attention to preoperative imaging, the use of IONM, and short- and long-term outcomes...
December 16, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27974690/benefit-of-sunitinib-in-the-treatment-of-pulmonary-primitive-neuroectodermal-tumors-a-case-report-and-literature-review
#14
Chunhui Zhang, Jingchun Zhang, Guangyu Wang, Jiajia Xu, Yanlin Li, Qing Guo, Tongsen Zheng, Yanqiao Zhang
Primitive neuroectodermal tumor (PNET) is a highly aggressive small round celltumor but is extremely rare in the lung. Next-generation sequencing (NGS) has led to breakthroughs for genetic analyses and personalizedmedicine approaches for cancer treatment.We report the case of a 30-year-old woman with an advanced pulmonary PNET treated with multiple chemotherapeutic regimens, and achieved a partial response (PR) as a best response. However, there was a disease progression after these treatment regimens.The NGS revealed the presence of a copy number loss (CNL) of Von Hippel-Lindau (VHL), CDKN2A/B and TP53 genes...
December 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27966541/prevalence-birth-incidence-and-penetrance-of-von-hippel-lindau-disease-vhl-in-denmark
#15
Marie Louise Mølgaard Binderup, Michael Galanakis, Esben Budtz-Jørgensen, Michael Kosteljanetz, Marie Luise Bisgaard
Von Hippel-Lindau disease (vHL) is a rare hereditary tumour predisposition with multiorgan involvement that is not always easily recognized. The disease is reported to be almost fully penetrant at age 60 years. Previous estimates of vHL prevalence and incidence are all regional and vary widely. Most are >20 years old and prone to selection bias because of inclusion of only clinically affected vHL patients who were diagnosed before genetic testing was available. In an unselected cohort of all known Danish carriers of a disease-causing VHL variant, we assessed vHL penetrance on a national basis...
December 14, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27959889/childhood-neuroendocrine-tumours-a-descriptive-study-revealing-clues-for-genetic-predisposition
#16
I J Diets, I D Nagtegaal, J Loeffen, I de Blaauw, E Waanders, N Hoogerbrugge, M C J Jongmans
BACKGROUND: Neuroendocrine tumours (NETs) are rare in children and limited data are available. We aimed to specify tumour and patient characteristics and to investigate the role of genetic predisposition in the aetiology of paediatric NETs. METHODS: Using the Dutch Pathology Registry PALGA, we collected patient- and tumour data of paediatric NETs in the Netherlands between 1991 and 2013 (N=483). RESULTS: The incidence of paediatric NETs in the Netherlands is 5...
December 13, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27932568/targeting-hif2-in-clear-cell-renal-cell-carcinoma
#17
Hyejin Cho, William G Kaelin
Inactivation of the von Hippel-Lindau tumor-suppressor protein (pVHL) is the signature "truncal" event in clear cell renal cell carcinoma, which is the most common form of kidney cancer. pVHL is part of a ubiquitin ligase the targets the α subunit of the hypoxia-inducible factor (HIF) transcription factor for destruction when oxygen is available. Preclinical studies strongly suggest that deregulation of HIF, and particularly HIF2, drives pVHL-defective renal carcinogenesis. Although HIF2α was classically considered undruggable, structural and chemical work by Rick Bruick and Kevin Gardner at University of Texas Southwestern laid the foundation for the development of small molecule direct HIF2α antagonists (PT2385 and the related tool compound PT2399) by Peloton Therapeutics that block the dimerization of HIF2α with its partner protein ARNT1...
December 8, 2016: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/27930436/self-peeling-epiretinal-membrane
#18
Cem Ozgonul, Cagri G Besirli
PURPOSE: To present a self-peeling epiretinal membrane (ERM) in a patient with spontaneously improved retinal capillary hemangioma in the left eye. METHODS: We demonstrate the improvement of an untreated retinal capillary hemangioma and resolution of ERM with fundus photography, fluorescein angiography, and spectral domain optical coherence tomography. Genetic testing excluded von Hippel-Lindau disease in this patient. RESULTS: Evaluation of a patient with rheumatoid arthritis revealed retinal capillary hemangioma with retinal exudates at the temporal peripheral fundus and an ERM in the left eye...
December 7, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#19
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27902963/homology-modeling-and-molecular-dynamics-simulation-of-the-hif2%C3%AE-degradation-related-hif2%C3%AE-vhl-complex
#20
Xiaotian Dong, Xiaoru Su, Jiong Yu, Jingqi Liu, Xiaowei Shi, Qiaoling Pan, Jinfeng Yang, Jiajia Chen, Lanjuan Li, Hongcui Cao
BACKGROUND: Hypoxia-inducible factor 2 alpha (HIF2α), prolyl hydroxylase domain protein 2 (PHD2), and the von Hippel Lindau tumor suppressor protein (pVHL) are three principal proteins in the oxygen-sensing pathway. Under normoxic conditions, a conserved proline in HIF2α is hydroxylated by PHD2 in an oxygen-dependent manner, and then pVHL binds and promotes the degradation of HIF2α. However, the crystal structure of the HIF2α-pVHL complex has not yet been established, and this has limited research on the interaction between HIF and pVHL...
January 2017: Journal of Molecular Graphics & Modelling
keyword
keyword
30951
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"