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https://www.readbyqxmd.com/read/27932568/targeting-hif2-in-clear-cell-renal-cell-carcinoma
#1
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
#2
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
#3
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...
December 2, 2016: 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
#4
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...
November 21, 2016: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#5
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27893452/confounding-of-the-association-between-radiation-exposure-from-ct-scans-and-risk-of-leukemia-and-brain-tumors-by-cancer-susceptibility-syndromes
#6
Johanna M Meulepas, Cécile M Ronckers, Johannes Merks, Michel E Weijerman, Jay H Lubin, Michael Hauptmann
Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients...
November 28, 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27891027/purely-extradural-spinal-nerve-root-hemangioblastomas
#7
REVIEW
Murat Hamit Aytar, Ulaş Yener, Murat Şakir Ekşi, Behram Kaya, Serdar Özgen, Aydin Sav, Ahmet Alanay
Spinal nerve root hemangioblastomas present mostly as intradural-extradurally. Purely extradural spinal nerve root hemangioblastoma is a very rare entity. In this study, we aimed to analyze epidemiological perspectives of purely extradural spinal nerve root hemangioblastomas presented in English medical literature in addition to our own exemplary case. PubMed/MEDLINE was searched using the terms "hemangioblastoma," "extradural," "spinal," and "nerve root." Demographical variables of age, gender, concomitant presence of von Hippel-Lindau (VHL) disease; spinal imaging and/or intraoperative findings for tumor location were surveyed from retrieved articles...
October 2016: Journal of Craniovertebral Junction and Spine
https://www.readbyqxmd.com/read/27890923/the-epigenetic-landscape-of-renal-cancer
#8
REVIEW
Mark R Morris, Farida Latif
The majority of kidney cancers are associated with mutations in the von Hippel-Lindau gene and a small proportion are associated with infrequent mutations in other well characterized tumour-suppressor genes. In the past 15 years, efforts to uncover other key genes involved in renal cancer have identified many genes that are dysregulated or silenced via epigenetic mechanisms, mainly through methylation of promoter CpG islands or dysregulation of specific microRNAs. In addition, the advent of next-generation sequencing has led to the identification of several novel genes that are mutated in renal cancer, such as PBRM1, BAP1 and SETD2, which are all involved in histone modification and nucleosome and chromatin remodelling...
November 28, 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27887012/epididymal-papillary-cystadenocarcinoma-metastasising-to-the-testis-in-a-patient-with-infertility-managed-with-onco-microtese
#9
Nisha Pindoria, Yurina Miki, Andrea Tay, Ashish Chandra, Christopher Anderson, Evangelos Zacharakis, Majed Shabbir
Papillary cystadenomas of the epididymis are known to occur in association with Von Hippel-Lindau (VHL) disease. The development of a papillary cystadenocarcinoma, its malignant counterpart, is rare with only a few sporadic cases reported in the literature. Metastatic deposits are exceedingly uncommon; in fact, only a single case report has documented metastases to the paraureteral region, but metastases to the testis have never been reported. A 43-year-old gentleman with VHL disease presented with non-obstructive azoospermia, a right epididymal mass, and an atrophic surgically corrected undescended left testis...
November 24, 2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27856438/genetics-of-von-hippel-lindau-disease
#10
D C Dwyer, R K Tu
No abstract text is available yet for this article.
November 17, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27852035/sunitinib-for-the-treatment-of-benign-and-malignant-neoplasms-from-von-hippel-lindau-disease-a-single-arm-prospective-phase-ii-clinical-study-from-the-predir-group
#11
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 investigated the effectiveness of sunitinib in VHL patients with advanced tumors or tumors unsuitable for surgery.This multicenter, phase II, open-label study from the PREDIR VHL network, treated patients with genetically-confirmed advanced VHL disease with oral sunitinib (50 mg/day for 28 days then a 2-week rest period) until progression...
November 11, 2016: Oncotarget
https://www.readbyqxmd.com/read/27851655/history-of-the-endolymphatic-sac-from-anatomy-to-surgery
#12
C Eduardo Corrales, Albert Mudry
OBJECTIVES: To evaluate the historical descriptive origins of the anatomy of endolymphatic sac (ELS), its initial dilation description, its association with tumors, and lastly its surgical implication. METHODS: A collection of historical and contemporary references, and selected textbooks were compiled spanning the 18th century to present day with specific focus on the description of the ELS, ELS dilation, and ELS tumors (ELSTs). RESULTS: Domenico Cotugno describes the ELS in 1760...
November 15, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27849574/correction-for-delgehyr-et-al-drosophila-mgr-a-prefoldin-subunit-cooperating-with-von-hippel-lindau-to-regulate-tubulin-stability
#13
(no author information available yet)
No abstract text is available yet for this article.
November 29, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27845047/tuberous-sclerosis-complex-protein-1-expression-is-affected-by-vhl-gene-alterations-and-hif-1%C3%AE-production-in-sporadic-clear-cell-renal-cell-carcinoma
#14
Svetozar S Damjanovic, Bojana B Ilic, Bojana B Beleslin Cokic, Jadranka A Antic, Jovana Z Bankovic, Ivana T Milicevic, Gordana S Rodic, Dusan S Ilic, Vera N Todorovic, Nela Puskas, Cane D Tulic
Alterations in von Hippel-Lindau gene (VHL) do not determine deregulation of hypoxia-inducible factors (HIFs) in clear-cell renal carcinoma (ccRCC). Their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expressions in sporadic ccRCC are unknown. Therefore, we analyze the impact of VHL alterations and HIF-α production on the expression of TSC proteins and Hsp90 in these tumors. Alterations in VHL gene region exhibited 37/47 (78.7%) tumors. Monoallelic inactivation (intragenic mutation or LOH) was found in 10 (21...
November 12, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27844272/resistance-to-targeted-therapies-in-renal-cancer-the-importance-of-changing-the-mechanism-of-action
#15
I Duran, J Lambea, P Maroto, J L González-Larriba, Luis Flores, S Granados-Principal, M Graupera, B Sáez, A Vivancos, O Casanovas
Renal cell carcinoma (RCC) is a complex disease characterized by mutations in several genes. Loss of function of the von Hippel-Lindau (VHL) tumour suppressor gene is a very common finding in RCC and leads to up-regulation of hypoxia-inducible factor (HIF)-responsive genes accountable for angiogenesis and cell growth, such as platelet-derived growth factor (PDGF) and vascular endothelial growth factor (VEGF). Binding of these proteins to their cognate tyrosine kinase receptors on endothelial cells promotes angiogenesis...
November 15, 2016: Targeted Oncology
https://www.readbyqxmd.com/read/27826806/uptake-of-prenatal-diagnostic-testing-for-retinoblastoma-compared-to-other-hereditary-cancer-syndromes-in-the-netherlands
#16
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Ans M W van den Ouweland, Rob B van der Luijt, Arjen R Mensenkamp, Frans B L Hogervorst, Egbert J W Redeker, Christine E M de Die-Smulders, Annette C Moll, Hanne Meijers-Heijboer
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes may opt for prenatal diagnoses (PND). We studied the uptake of prenatal diagnosis for five hereditary cancer syndromes in the Netherlands. Uptake for retinoblastoma (Rb) was compared with uptake for Von Hippel-Lindau disease (VHL), Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and hereditary breast ovarian cancer (HBOC). A questionnaire was completed by all nine DNA-diagnostic laboratories assessing the number of independent mutation-positive families identified from the start of diagnostic testing until May 2013, and the number of PNDs performed for these syndromes within these families...
November 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27822416/hydroxyl-hif2-alpha-is-potential-therapeutic-target-for-renal-cell-carcinomas
#17
Takahiro Isono, Tokuhiro Chano, Tetsuya Yoshida, Susumu Kageyama, Akihiro Kawauchi, Masafumi Suzaki, Takeshi Yuasa
Dormant cancer cells are deprivation-resistant, and cause a number of problems for therapeutic approaches for cancers. Renal cell carcinomas (RCCs) include deprivation-resistant cells that are resistant to various treatments. In this study, the specific characteristics of deprivation-resistant cells were transcriptionally identified by next generation sequencing. The hypoxia-inducible factors (HIF) transcription factor network was significantly enhanced in deprivation-resistant RCCs compared to the sensitive RCCs...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27816717/pancreatic-serous-cystic-neoplasms-accompanying-other-pancreatic-tumors
#18
So-Woon Kim, In Hye Song, Soyeon An, So Yeon Kim, Hyoung Jung Kim, Ki-Byung Song, Dae Wook Hwang, Sang Soo Lee, Jae Ho Byun, Dong-Wan Seo, Song Cheol Kim, Eunsil Yu, Seung-Mo Hong
Serous cystic neoplasms (SCNs) are benign cystic neoplasms that predominantly occur in the tail of the pancreas in elderly women. It is well known that patients with von Hippel-Lindau syndrome can develop SCNs and neuroendocrine tumors in the pancreas. However, our understanding on SCNs accompanying other pancreatic tumors (SCNAOPTs) is limited. We compared the clinicopathologic features of 15 surgically resected SCNAOPTs with 259 conventional SCNs. The prevalence of SCNAOPT was 5%. The SCNAOPTs were significantly smaller than conventional solitary SCNs, and they were more commonly observed in the head of the pancreas, while conventional solitary SCNs were more frequently noted in the body and tail...
November 2, 2016: Human Pathology
https://www.readbyqxmd.com/read/27787920/phaeochromocytomas-are-diagnosed-incidentally-and-at-older-age-in-neurofibromatosis-type-1
#19
Jessica Moramarco, Nada El Ghorayeb, Nadine Dumas, Serge Nolet, Luce Boulanger, Nelly Burnichon, André Lacroix, Zaki Elhaffaf, Anne-Paule Gimenez Roqueplo, Pavel Hamet, Isabelle Bourdeau
INTRODUCTION: Guidelines do not currently recommend routine systematic hormonal screening for phaeochromocytoma (PHEO) in all/normotensive patients with Neurofibromatosis type 1 (NF1), in contrast to other PHEO predisposing genetic syndromes such as Von Hippel Lindau syndrome and Multiple endocrine neoplasia type 2. OBJECTIVES: To characterise and compare parameters of PHEO in NF1 patients to patients with or without other germline mutations. METHODS: Retrospective chart review of patients with histologically proven PHEO at the Centre Hospitalier de l'Université de Montréal from 2000 through 2015...
October 27, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27785399/von-hippel-lindau-disease-the-clinical-manifestations-and-genetic-analysis-results-of-two-cases-from-a-single-family
#20
S Kinyas, S A Ozal, H Guclu, V Gurlu, H Esgin, H Gurkan
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited multi systemic cancer syndrome that is classically associated with neoplasms in multiple organs, and caused by mutations in the VHL gene on chromosome 3p25-p26. Retinal hemangioblastoma (RH) is the most frequent and the earliest clinical sign of the disease, which is seen in 40.0-60.0% of patients. In recent years, studies of patients with VHL tried to put forward the relationship between genotype and phenotype. In this study, two VHL cases in the same family with clinical findings and genetic analysis results are presented...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
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