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281por Valdés-Lara, Carlos Andrés, Oyervides-Alvarado, Jose Arturo, Elizondo-Camacho, Juan Manuel, Acón-Ramírez, Dhariana, García-Aguirre, Jose Gerardo“…After a complete anamnesis and genetic counseling, Von Hippel-Lindau disease was diagnosed. Treatment with laser photocoagulation was performed on both eyes. …”
Publicado 2020
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282por Groß, Alexander, Chernyakov, Dmitry, Gallwitz, Lisa, Bornkessel, Nicola, Edemir, Bayram“…Loss of von Hippel–Lindau (VHL) protein function can be found in more than 90% of patients with clear cell renal carcinoma (ccRCC). …”
Publicado 2020
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283por Belaid, Rym, Oueslati, Ibtissem, Chihaoui, Melika, Yazidi, Meriem, Grira, Wafa, Chaker, Fatma“…Von Hippel–Lindau disease is an autosomal dominant inherited syndrome predisposing to a variety of highly vascularised tumors in different organs. …”
Publicado 2020
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284por Singh, Balveen, Singla, Monika, Singh, Romil, Rathore, Sawai Singh, Gupta, Animesh“…There is an assortment of disorders that have multisystem involvement. Von Hippel-Lindau (VHL) syndrome, a rare autosomal dominant disease, falls in that category. …”
Publicado 2020
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285The E3 ubiquitin-protein ligase MDM2 is a novel interactor of the von Hippel–Lindau tumor suppressorpor Falconieri, Antonella, Minervini, Giovanni, Bortolotto, Raissa, Piovesan, Damiano, Lopreiato, Raffaele, Sartori, Geppo, Pennuto, Maria, Tosatto, Silvio C. E.“…Mutations of the von Hippel–Lindau (pVHL) tumor suppressor are causative of a familiar predisposition to develop different types of cancer. pVHL is mainly known for its role in regulating hypoxia-inducible factor 1 α (HIF-1α) degradation, thus modulating the hypoxia response. …”
Publicado 2020
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286por Liu, Zhen, Li, Liang, Yi, Zhiqiang, Duan, Hongzhou, Lu, Runchun, Li, Chunwei, Li, Lei, Gong, Kan“…OBJECTIVE: Central nervous system (CNS) hemangioblastomas (HGBs) are the most frequent cause of mortality in patients with von Hippel-Lindau (VHL) genetic syndrome. However, there is a lack of large studies on the clinical features and optimal management of HGBs in Chinese patients. …”
Publicado 2020
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287por Ricketts, Christopher J, Vocke, Cathy D, Lang, Martin, Chen, Xiongfong, Zhao, Yongmei, Tran, Bao, Tandon, Mayank, Schmidt, Laura S, Ball, Mark W, Linehan, W Marston“…Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary tumour susceptibility disease caused by germline pathogenic variation of the VHL tumour suppressor gene. …”
Publicado 2022
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288por Sumiyoshi, Takayuki, Yamasaki, Toshinari, Takeda, Masashi, Mizuno, Kei, Utsunomiya, Noriaki, Sakamoto, Hiromasa, Nakamura, Eijiro, Ogawa, Osamu, Akamatsu, Shusuke“…To evaluate the clinical utility of circulating tumor DNA (ctDNA) analysis in ccRCC, we established a highly sensitive assay to detect mutations in von Hippel‐Lindau gene (VHL) using a combination of digital PCR and multiplex PCR–based targeted sequencing. …”
Publicado 2021
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289“…Semiquantitative immunohistochemical analysis of clinical samples was carried out and the results suggested the positive association between SHARPIN and hypoxia‐induced factor‐2α (HIF‐2α). Von Hippel‐Lindau protein (pVHL) is a tumor suppressor that contributes to degrading HIF‐2α. …”
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290por WAKITA, Shogo, TAMIYA, Ado, HIGUCHI, Yoshinori, KIKUCHI, Hiroshi, KUBOTA, Masaaki, IKEGAMI, Shiro, HORIGUCHI, Kentaro, IKEDA, Junichiro, IWADATE, Yasuo“…von Hippel–Lindau (VHL) disease is characterized by neoplastic and cystic lesions, such as central nervous system (CNS) hemangioblastoma and clear cell renal cell carcinoma (RCC), arising in multiple organs. …”
Publicado 2021
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291por Dos Santos e Santos, Christiano, dos S. e Santos, Guilherme, Araujo Tuma Santos, Cristiane“…Von Hippel-Lindau (VHL) disease is a complex genetic syndrome characterized by multisystemic vascular neoplastic disorder. …”
Publicado 2021
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293“…The von Hippel-Lindau (VHL) Cullin RING E3 ligase is an essential enzyme in the ubiquitin-proteasome system that recruits substrates such as the hypoxia inducible factor for ubiquitination and subsequent proteasomal degradation. …”
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294por Kirste, Simon, Rühle, Alexander, Zschiedrich, Stefan, Schultze-Seemann, Wolfgang, Jilg, Cordula A., Neumann-Haefelin, Elke, Lo, Simon S., Grosu, Anca-Ligia, Kim, Emily“…SIMPLE SUMMARY: Clear cell renal cell carcinoma (ccRCC) frequently occurs in patients with von Hippel–Lindau disease and is a leading cause of mortality in patients with this hereditary disorder. …”
Publicado 2022
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295“…OBSERVATIONS: A 67-year-old man with a prolonged von Hippel-Lindau disease (VHL) history presented with sudden headache and vomiting. …”
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296por Suárez, Cristina, Vieito, Maria, Valdivia, Augusto, González, Macarena, Carles, Joan“…Von Hippel–Lindau (VHL) loss is the hallmark event characterizing the clear cell renal cancer subtype (ccRCC). …”
Publicado 2023
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297por Pokharkar, Ashitosh D., Kandpal, Deepak K., Aditya, M., Batra, Chandar M., Chowdhary, Sujit K.“…Among the rarest causes leading to this acute crisis, is bilateral adrenal tumour as a part of a syndrome, Von Hippel Lindau syndrome. The treatment is based on the excision of the adrenal tumour followed by long term surviellence. …”
Publicado 2023
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298“…Collision tumors are rarely reported in patients with von Hippel-Lindau (VHL) disease, even though VHL patients often present with multi-organ tumor syndromes, like hemangioblastoma and renal cell carcinoma (RCC). …”
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299“…BACKGROUND: Metastatic renal cell carcinoma (RCC) remains the leading cause of mortality in patients with clear cell RCC arising from mutations in the von Hippel Lindau (VHL) tumor suppressor. Successful RCC tumor suppression by VHL requires the negative regulation of hypoxia inducible factor alpha (HIF alpha) protein and its downstream targets. …”
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300“…BACKGROUND: The von Hippel-Lindau (VHL) tumor suppressor gene encodes a component of a ubiquitin ligase complex, which is best understood as a negative regulator of hypoxia inducible factor (HIF). …”
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