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von hippel lindau

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https://www.readbyqxmd.com/read/28534376/vhl-tgfbi-signaling-is-involved-in-the-synergy-between-5-aza-2-deoxycytidine-and-paclitaxel-against-human-renal-cell-carcinoma
#1
Donghao Shang, Shaozhong Xian, Tiandong Han, Xuanhao Li, Yuting Liu
PURPOSE: To analyse the role of von Hippel-Lindau (VHL) and transforming growth factor β-induced (TGFBI) in synergistic mechanisms of 5-aza-2'-deoxycytidine (DAC) and paclitaxel (PTX) against renal cell carcinoma (RCC). METHODS: To elucidate the role in the synergy between DAC and PTX against RCC cells, TGFBI expression was regulated using siRNA technology and an expression vector containing the full-length cDNA for TGFBI was also transfected into RCC cells. The proliferation of RCC cells was evaluated using the WST-1 assay and TGFBI expression was detected by real-time PCR (RT-PCR), and Western blot...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28533271/vhl-inactivation-in-precancerous-kidney-cells-induces-an-inflammatory-response-via-er-stress-activated-ire1%C3%AE-signaling
#2
Chan-Yen Kuo, Chih-Hung Lin, Tien Hsu
Mutations and epigenetic inactivation of the tumor suppressor gene von Hippel-Lindau (VHL) are major causes of clear-cell renal cell carcinoma (ccRCC) that may originate from chronic inflammation. However, the role of VHL loss-of-function in the development of ccRCC via inflammation remains poorly understood. VHL mutant cells exhibit metabolic abnormalities that can cause chronic endoplasmic reticulum (ER) stress and unfolded protein response (UPR). We hypothesize that unresolved ER stress induces the inflammatory responses observed in ccRCC...
May 22, 2017: Cancer Research
https://www.readbyqxmd.com/read/28527294/activation-of-hypoxia-signaling-in-stromal-progenitors-impairs-kidney-development
#3
Katharina Gerl, Dominik Steppan, Michaela Fuchs, Charlotte Wagner, Carsten Willam, Armin Kurtz, Birgül Kurt
Intrauterine hypoxia is a reason for impaired kidney development. The cellular and molecular pathways along which hypoxia exerts effects on nephrogenesis are not well understood. They are likely triggered by hypoxia-inducible transcription factors (HIFs), and their effects appear to be dependent on the cell compartment contributing to kidney formation. In this study, we investigated the effects of HIF activation in the developing renal stroma, which also essentially modulates nephron development from the metanephric mesenchyme...
May 17, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28515932/single-stage-laparoscopic-adrenalectomy-for-pheochromocytoma-and-enucleation-of-a-pancreatic-neuroendocrine-tumor-in-von-hippel-lindau-disease-a-case-report
#4
Marco Casaccia, Simona Macina, Rosario Fornaro
Von Hippel-Lindau (VHL) disease is an inherited syndrome with autosomal-dominant transmission, characterized by central nervous system and retinal hemangioblastomas, visceral cysts and tumors. Optimal surgical treatment, including its timing, remains a controversial topic. The present study reports the case of a 67-year-old female patient with adrenal and pancreatic manifestations of VHL. A laparoscopic cortex-sparing left adrenalectomy for a 4-cm pheochromocytoma and pancreatic enucleation for pancreatic polypeptidoma of the pancreas tail were performed during the same operative procedure...
May 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28511230/-papillary-cystadenoma-a-rare-differential-diagnosis-of-a-paratesticular-tumour
#5
Désirée Louise Dräger, Sarah Zonnur, Andreas Erbersdobler, Chris Protzel, Oliver W Hakenberg
Testicular and paratesticular cystadenomas arise from an oviduct-like structure, which, morphologically, is almost identical with the ovarian surface epithelium. These are very rare benign tumours of adults. They present as asymptomatic cystic lesions. Bilateral paratesticular cystadenomas are associated with the Von-Hippel-Lindau syndrome and may be associated with infertility. Most cystadenomas are benign, but a few cases of malignant transformation of embryonic remnants have been reported in the appendix testis, including cases of adenocarcinoma, cystadenocarcinoma, and a Müllerian-type epithelial tumour with a low malignant potential...
May 16, 2017: Aktuelle Urologie
https://www.readbyqxmd.com/read/28503272/von-hippel-lindau-disease
#6
Sna Muhamad Nor, J Haron
Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.
2017: Malaysian Family Physician
https://www.readbyqxmd.com/read/28503092/management-of-gene-variants-of-unknown-significance-analysis-method-and-risk-assessment-of-the-vhl-mutation-p-p81s-c-241c-t
#7
REVIEW
Daniela Alosi, Marie Luise Bisgaard, Sophie Nowak Hemmingsen, Lotte Nylandsted Krogh, Hanne Birte Mikkelsen, Marie Louise Mølgaard Binderup
BACKGROUND: Evaluation of the pathogenicity of a gene variant of unknown significance (VUS) is crucial for molecular diagnosis and genetic counseling, but can be challenging. This is especially so in phenotypically variable diseases, such as von Hippel-Lindau disease (vHL). vHL is caused by germline mutations in the VHL gene, which predispose to the development of multiple tumors such as central nervous system hemangioblastomas and renal cell carcinoma (RCC). OBJECTIVE: We propose a method for the evaluation of VUS pathogenicity through our experience with the VHL missense mutation c...
February 2017: Current Genomics
https://www.readbyqxmd.com/read/28499761/cystadenoma-of-the-rete-testis-in-a-patient-with-von-hippel-lindau-disease
#8
Jacob Lewis, David Thiel, Gregory Broderick, Candice Bolan
Von-Hippel Lindau (VHL) disease is a rare, inherited multicystic disorder that is characterized by several benign and malignant neoplasms (1). Classically, the disease manifests itself in a broad spectrum including: renal cell carcinomas, intracranial and spinal hemangioblastomas, endolymphatic sac tumors, renal and pancreatic cysts, and pheochromocytomas. Another important, but commonly forgotten manifestation is the cystadenoma of the rete testis.
May 9, 2017: Urology
https://www.readbyqxmd.com/read/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#9
Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28490657/targeting-endogenous-proteins-for-degradation-through-the-affinity-directed-protein-missile-system
#10
Luke J Fulcher, Luke D Hutchinson, Thomas J Macartney, Craig Turnbull, Gopal P Sapkota
Targeted proteolysis of endogenous proteins is desirable as a research toolkit and in therapeutics. CRISPR/Cas9-mediated gene knockouts are irreversible and often not feasible for many genes. Similarly, RNA interference approaches necessitate prolonged treatments, can lead to incomplete knockdowns and are often associated with off-target effects. Targeted proteolysis can overcome these limitations. In this report, we describe an affinity-directed protein missile (AdPROM) system that harbours the von Hippel-Lindau (VHL) protein, the substrate receptor of the Cullin2 (CUL2) E3 ligase complex, tethered to polypeptide binders that selectively bind and recruit endogenous target proteins to the CUL2-E3 ligase complex for ubiquitination and proteasomal degradation...
May 2017: Open Biology
https://www.readbyqxmd.com/read/28486780/quantitative-proteomics-to-study-a-small-molecule-targeting-the-loss-of-von-hippel-lindau-in-renal-cell-carcinomas
#11
Nadia Bouhamdani, Andrew Joy, David Barnett, Kevin Cormier, Daniel Léger, Ian C Chute, Simon Lamarre, Rodney Ouellette, Sandra Turcotte
Inactivation of the tumor suppressor gene, von Hippel-Lindau (VHL), is known to play an important role in the development of sporadic clear cell renal cell carcinomas (ccRCCs). Even if available targeted therapies for metastatic RCCs (mRCCs) have helped to improve progression-free survival rates, they have no durable clinical response. We have previously shown the feasibility of specifically targeting the loss of VHL with the identification of a small molecule, STF-62247. Understanding its functionality is crucial for developing durable personalized therapeutic agents differing from those available targeting hypoxia inducible factor (HIF-) pathways...
May 9, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28484847/genetic-kidney-diseases-caenorhabditis-elegans-as-model-system
#12
REVIEW
Athina Ganner, Elke Neumann-Haefelin
Despite its apparent simplicity, the nematode Caenorhabditis elegans has a high rating as a model in molecular and developmental biology and biomedical research. C. elegans has no excretory system comparable with the mammalian kidney but many of the genes and molecular pathways involved in human kidney diseases are conserved in C. elegans. The plethora of genetic, molecular and imaging tools available in C. elegans has enabled major discoveries in renal research and advanced our understanding of the pathogenesis of genetic kidney diseases...
May 8, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#13
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28462169/managing-renal-cell-carcinoma-associated-paraneoplastic-syndrome-with-nephron-sparing-surgery-in-a-patient-with-von-hippel-lindau
#14
John M DiBianco, Julie Y An, Sally Tanakchi, Zachary Stanik, Aidan McGowan, Mahir Maruf, Abhinav Sidana, Amit Lodha Jain, Akhil Muthigi, Arvin K George, Christopher Bayne, W Marston Linehan, Shawna L Boyle, Adam R Metwalli
A patient with germline von Hippel-Lindau (VHL) gene alteration and history of multiple tumors present with classical paraneoplastic syndrome (PNS) associated with renal cell carcinoma (RCC). She underwent open nephron sparing surgery with resolution of symptoms. She remained without recurrence of RCC for the initial 2 years of her follow-up. To the best of our knowledge, this case represents the first in which PNS was specifically resolved using a partial nephrectomy in a patient with VHL. This case report provides initial evidence for the potential role of nephron sparing surgery in the management of paraneoplastic symptoms associated with hereditary RCC...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28454217/paraganglioma-of-the-organ-of-zuckerkandl-associated-with-a-somatic-hif2%C3%AE-mutation-a-case-report
#15
Ahmad Esmaeel Abdullah, Carole Guerin, Alessio Imperiale, Anne Barlier, Stéphanie Battini, Morgane Pertuit, Philippe Roche, Wassim Essamet, Bernard Vaisse, Karel Pacak, Fréderic Sebag, David Taïeb
Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (SDHB) or SDHD gene mutations. The aim of the current study was to determine whether a somatic genetic defect in the hypoxia-inducible factor 2α (HIF2α) gene was present in a case of sporadic OZ-PGL. A 32-year-old African female presented with uncontrolled hypertension during the first trimester of pregnancy. A diagnostic hysteroscopy was performed 3 months after delivery, precipitating a hypertensive crisis...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28425756/cns-hemangioblastomatosis-in-a-patient-without-von-hippel-lindau-disease
#16
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
#17
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
#18
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
#19
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
#20
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
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