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von hippel lindau

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https://www.readbyqxmd.com/read/28425756/cns-hemangioblastomatosis-in-a-patient-without-von-hippel-lindau-disease
#1
Arie Franco, Peter Pytel, Rimas V Lukas, Rupa Chennamaneni, John M Collins
We report on a case of disseminated CNS hemangioblastoma, also referred to as hemangioblastomatosis, involving the supratentorial compartment and the entire spine. The patient presented with new onset headache, gait difficulties and memory deficits many years following resection of a hemangioblastoma from the cerebellum. The patient's family history was negative for von Hippel-Lindau (VHL) disease, and his personal history was negative for any additional VHL-defining lesions. Imaging revealed extensive dural caking and nodularity both supratentorially and in the spine, along with scattered parenchymal tumors showing a more typical appearance for hemangioblastoma...
April 2017: CNS Oncology
https://www.readbyqxmd.com/read/28425505/novel-interactions-of-the-von-hippel-lindau-pvhl-tumor-suppressor-with-the-cdkn1-family-of-cell-cycle-inhibitors
#2
Giovanni Minervini, Raffaele Lopreiato, Raissa Bortolotto, Antonella Falconieri, Geppo Sartori, Silvio C E Tosatto
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor predisposes patients to develop different highly vascularized cancers. pVHL targets the hypoxia-inducible transcription factor (HIF-1α) for degradation, modulating the activation of various genes involved in hypoxia response. Hypoxia plays a relevant role in regulating cell cycle progression, inducing growth arrest in cells exposed to prolonged oxygen deprivation. However, the exact molecular details driving this transition are far from understood...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28413390/a-serous-cystic-neoplasm-of-the-pancreas-coexisting-with-high-grade-pancreatic-intraepithelial-neoplasia-mimicking-an-intraepithelial-papillary-mucinous-neoplasm-a-case-report
#3
Aya Kawanishi, Kenichi Hirabayashi, Hirotaka Kono, Yumi Takanashi, Atsuko Hadano, Yohei Kawashima, Masami Ogawa, Yoshiaki Kawaguchi, Misuzu Yamada, Toshio Nakagohri, Naoya Nakamura, Tetsuya Mine
Serous cystic neoplasms of the pancreas are rare exocrine pancreatic neoplasms, most of which are benign and do not communicate with the pancreatic duct. Pancreatic intraepithelial neoplasm (PanIN) is considered a precursor of ductal adenocarcinoma that is microscopically recognized in pancreatic ducts. A 67-year-old Japanese woman presented with a 10-mm multilocular cystic lesion at the pancreatic body. Magnetic resonance pancreatography showed stenosis of the main pancreatic duct at the pancreatic body and dilatation of the distal side of the main pancreatic duct...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28400504/cardiopulmonary-phenotype-associated-with-human-phd2-mutation
#4
Nick P Talbot, Thomas G Smith, George M Balanos, Keith L Dorrington, Patrick H Maxwell, Peter A Robbins
Oxygen-dependent regulation of the erythropoietin gene is mediated by the hypoxia-inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen-dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the von Hippel-Lindau (VHL) ubiquitin E3 ligase and subsequent proteosomal degradation. When oxygen is scarce, the PHD enzymes are inactivated, leading to HIF accumulation and upregulation not only of erythropoietin expression, but also the expression of hundreds of other genes, including those coordinating cardiovascular and ventilatory adaptation to hypoxia...
April 2017: Physiological Reports
https://www.readbyqxmd.com/read/28394947/hypoxia-inducible-factor-2%C3%AE-stabilizes-the-von-hippel-lindau-vhl-disease-suppressor-myb-related-protein-2
#5
Fumihiko Okumura, Akiko Joo-Okumura, Kunio Nakatsukasa, Takumi Kamura
Ubiquitin ligase von Hippel-Lindau tumor suppressor (pVHL) negatively regulates protein levels of hypoxia-inducible factor-α (HIF-α). Loss of pVHL causes HIF-α accumulation, which contributes to the pathogenesis of von Hippel-Lindau (VHL) disease. In contrast, v-Myb avian myeloblastosis viral oncogene homolog-like 2 (MYBL2; B-Myb), a transcription factor, prevents VHL pathogenesis by regulating gene expression of HIF-independent pathways. Both HIF-α and B-Myb are targets of pVHL-mediated polyubiquitination and proteasomal degradation...
2017: PloS One
https://www.readbyqxmd.com/read/28388566/genotype-phenotype-correlations-in-chinese-von-hippel-lindau-disease-patients
#6
Shuanghe Peng, Matthew J Shepard, Jiangyi Wang, Teng Li, Xianghui Ning, Lin Cai, Zhengping Zhuang, Kan Gong
von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlations at mutation type level, mutation region level, and mutation codon level were analyzed by Kaplan-Meier curves and Cox regression models...
March 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28387021/diagnosing-clear-cell-neuroendocrine-tumors-on-cytological-specimens-report-of-two-cases-and-brief-literature-review
#7
Kaila Buckley, Zaibo Li
Although many of the common manifestations of Von Hippel-Lindau (VHL) disease are relatively well known, there is one particular entity which is quite rare, but which appears to show a specific predilection for VHL patients. This entity is clear cell neuroendocrine tumor (NET). It is a difficult diagnosis to make due to its cytomorphologic similarities to other entities, such as metastatic clear cell renal cell carcinoma and paraganglioma, amongst others. These tumors, however, are characteristically positive for neuroendocrine markers such as synaptophysin and chromogranin, as well as cytokeratins...
April 6, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28386333/microrna-150-regulates-glycolysis-by-targeting-von-hippel-lindau-in-glioma-cells
#8
Shi-Jie Li, Hong-Lin Liu, Shi-Lei Tang, Xiao-Juan Li, Xiao-Yin Wang
Warburg effect, characterized by enhanced glycolysis and lactate production, even under aerobic conditions, is one of the hallmarks of cancer cells. However, the mechanism underlying this phenomenon remains poorly understood. Previous studies have shown that microRNA-150 (miR-150) is significantly up-regulated in various malignancies and represents a putative onco-miRNA in human cancers. In the present study, we aim to investigate the functional significance and molecular target of miR-150 in glioma. As a result, von Hippel-Lindau (VHL), which is a specific E3 ligase for hypoxia inducible factor 1 (HIF1α), was identified as a novel target of miR-150...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28379443/differences-in-genetic-and-epigenetic-alterations-between-von-hippel-lindau-disease-related-and-sporadic-hemangioblastomas-of-the-central-nervous-system
#9
Shunsaku Takayanagi, Akitake Mukasa, Shota Tanaka, Masashi Nomura, Mayu Omata, Shunsuke Yanagisawa, Shogo Yamamoto, Koichi Ichimura, Hirofumi Nakatomi, Keisuke Ueki, Hiroyuki Aburatani, Nobuhito Saito
Background.: Although inactivation of the von Hippel-Lindau gene (VHL), located on chromosome 3p25, is considered to be a major cause of hemangioblastomas (HBs), the incidence of biallelic inactivation of VHL is reportedly low. The aim of this study was to determine the prevalence of VHL alterations in HBs, as well as to identify additional molecular aberrations. Methods.: Genetic and epigenetic alterations were comprehensively and comparatively analyzed in 11 VHL-related and 21 sporadic HBs...
March 30, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28378579/a-click-chemistry-platform-for-the-rapid-synthesis-of-bispecific-molecules-for-inducing-protein-degradation
#10
Ryan P Wurz, Ken Dellamaggiore, Hannah Dou, Noelle Javier, Mei-Chu Lo, John D McCarter, Dane Mohl, Christine Sastri, J Russell Lipford, Victor J Cee
Proteolysis targeting chimeras (PROTACs) are bispecific molecules containing a target protein binder and an ubiquitin ligase binder connected by a linker. By recruiting an ubiquitin ligase to a target protein, PROTACs promote ubiquitination and proteasomal degradation of the target protein. The generation of effective PROTACs depends on the nature of the protein/ligase ligand pair, linkage site, linker length, and linker composition, all of which have been difficult to address in a systematic way. Herein, we describe a "click chemistry" approach for the synthesis of PROTACs...
April 5, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28368975/early-detection-of-retinal-hemangioblastomas-in-von-hippel-lindau-disease-using-ultra-widefield-fluorescein-angiography
#11
Xuejing Chen, Christian J Sanfilippo, Aaron Nagiel, Hamid Hosseini, Devery Mitchell, Colin A McCannel, Steven D Schwartz, Tara A McCannel
PURPOSE: To study the use of ultra-widefield fluorescein angiography (UWF FA) in the detection and management of retinal capillary hemangioblastomas in patients with von Hippel-Lindau disease. METHODS: This is a retrospective study of patients with von Hippel-Lindau disease who underwent UWF FA using the Optos camera at a single center from June 2009 to May 2015. The clinical use of UWF FA was reviewed, and the number of hemangioblastomas identified on UWF FA was compared with ophthalmoscopy and a simulated seven standard field (7SF) FA montage...
March 30, 2017: Retina
https://www.readbyqxmd.com/read/28363475/clin-cancer-res-2004-sep-15-10-18-pt-2-6371s-6376s
#12
Max Meng
Current standard treatments for patients with metastatic (stage IV) renal cell carcinoma involve both surgical removal of tumors and treatment with biological agents such as interleukin 2 or IFN-α. Unfortunately, such approaches are inadequate for most patients with stage IV disease; the result is a median time to progression of 2 to 4 months and an overall survival of 6 to 17 months. Standard chemotherapy has been uniformly disappointing in this disorder. It is clear that new therapies are needed to approach these patients...
March 28, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28358746/solitary-retinal-capillary-hemangioma-in-a-patient-with-bilateral-chorioretinal-coloboma
#13
Andres F Lasave, Pablo Deromedis
PURPOSE: To report a case showing a very rare association of chorioretinal coloboma and retinal capillary hemangioma in a previously healthy patient. METHODS: Observational case report. RESULTS: A 21-year-old woman presented at our clinic for vision screening. She had a history of bilateral chorioretinal coloboma with amblyopia in her left eye. Her best-corrected visual acuity was 20/25 in her right eye and 20/200 in her left eye. On slit-lamp examination, iris coloboma was observed in the left eye...
March 29, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28350976/neuroendocrine-tumor-of-the-common-bile-duct-case-report
#14
C Raspanti, N Falco, V Silvestri, G Rotolo, S Bonventre, G Gulotta
Neuroendocrine tumors (NET) are a very heterogeneous group of neoplasms; in recent years we have seen an increase in their incidence (3.65 /100.000/year). They can be associated with hereditary endocrine syndromes (MEN, Von Hippel Lindau); they can occur at any age and the incidence is slightly higher in men than women. The aetiology of the neuroendocrine tumors is unclear; in most cases, inflammation of the bile ducts may be the underlying cause and for this reason, the initial patient's evaluation should be focused on the different aspects concerning the oncological one and the possible sequelae of the biliary obstructions that can evolve in biliary sepsis...
November 2016: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/28346230/glutaminase-and-poly-adp-ribose-polymerase-inhibitors-suppress-pyrimidine-synthesis-and-vhl-deficient-renal-cancers
#15
Arimichi Okazaki, Paulo A Gameiro, Danos Christodoulou, Laura Laviollette, Meike Schneider, Frances Chaves, Anat Stemmer-Rachamimov, Stephanie A Yazinski, Richard Lee, Gregory Stephanopoulos, Lee Zou, Othon Iliopoulos
Many cancer-associated mutations that deregulate cellular metabolic responses to hypoxia also reprogram carbon metabolism to promote utilization of glutamine. In renal cell carcinoma (RCC), cells deficient in the von Hippel-Lindau (VHL) tumor suppressor gene use glutamine to generate citrate and lipids through reductive carboxylation (RC) of α-ketoglutarate (αKG). Glutamine can also generate aspartate, the carbon source for pyrimidine biosynthesis, and glutathione for redox balance. Here we have shown that VHL-/- RCC cells rely on RC-derived aspartate to maintain de novo pyrimidine biosynthesis...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28340688/rho-associated-kinase-1-inhibition-is-synthetically-lethal-with-von-hippel-lindau-deficiency-in-clear-cell-renal-cell-carcinoma-thompson-jm-nguyen-qh-singh-m-pavesic-mw-nesterenko-i-nelson-lj-liao-ac-razorenova-ov
#16
https://www.readbyqxmd.com/read/28336782/functional-imaging-signature-of-patients-presenting-with-polycythemia-paraganglioma-syndromes
#17
Ingo Janssen, Clara Chi Chen, Zhenping Zhuang, Corina M Millo, Katherine Wolf, Alexander Ling, Frank I Lin, Karen T Adams, Peter Herscovitch, Richard A Feelders, Antonio T Fojo, David Taieb, Electron Kebebew, Karel Pacak
Rationale: Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau (VHL) gene. Recently, mutations in the prolyl hydroxylase gene (PHD) 1 and 2 and in the hypoxia-inducible factor 2 alpha (HIF2A) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered...
March 23, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28330784/vascular-endothelial-growth-factor-vegf-and-vegf-receptor-inhibitors-in-the-treatment-of-renal-cell-carcinomas
#18
REVIEW
Robert Roskoski
One Von Hippel-Lindau (VHL) tumor suppressor gene is lost in most renal cell carcinomas while the nondeleted allele exhibits hypermethylation-induced inactivation or inactivating somatic mutations. As a result of these genetic modifications, there is an increased production of VEGF-A and pro-angiogenic growth factors in this disorder. The important role of angiogenesis in the pathogenesis of renal cell carcinomas and other tumors has focused the attention of investigators on the biology of VEGFs and VEGFR1-3 and to the development of inhibitors of the intricate and multifaceted angiogenic pathways...
March 19, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28325651/genitourinary-paraganglioma-demographic-pathologic-and-clinical-characteristics-in-the-surveillance-epidemiology-and-end-results-database-2000-2012
#19
Stephanie Purnell, Abhinav Sidana, Mahir Maruf, Campbell Grant, Piyush K Agarwal
BACKGROUND: Extra-adrenal paragangliomas (PGLs) are infrequent, benign, and neuroendocrine tumors arising from chromaffin cells of the autonomic nervous system. Most PGLs are sporadic, but up to 32% are associated with inherited syndromes such as neurofibromatosis type 1, von Hippel-Lindau disease, and familial PGL. Although most PGLs develop above the umbilicus, they have been reported in the genitourinary (GU) tract. Owing to the paucity of literature on the rates of GU PGL, the objective of our study is to describe the demographic, pathologic, and clinical characteristics of GU PGL, and compare them to non-GU sites of PGL using the surveillance, epidemiology, and end results (SEER) database...
March 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28315321/the-functional-interplay-between-the-hif-pathway-and-the-ubiquitin-system-more-than-a-one-way-road
#20
Julia Günter, Amalia Ruiz-Serrano, Christina Pickel, Roland H Wenger, Carsten C Scholz
The hypoxia inducible factor (HIF) pathway and the ubiquitin system represent major cellular processes that are involved in the regulation of a plethora of cellular signaling pathways and tissue functions. The ubiquitin system controls the ubiquitination of proteins, which is the covalent linkage of one or several ubiquitin molecules to specific targets. This ubiquitination is catalysed by approximately 1000 different E3 ubiquitin ligases and can lead to different effects, depending on the type of internal ubiquitin chain linkage...
March 14, 2017: Experimental Cell Research
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