Cells, 2022 The inactivation of von Hippel–Lindau (VHL) is critical for clear cell renal cell carcinoma (ccRCC) and VHL syndrome. VHL loss leads to the stabilization of hypoxia-inducible factor α (HIFα) and other substrate proteins, which, together, drive various ...
Xuechun Wang +7 more
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A Versatile DNA-Encoded Library Platform for the Discovery of Highly Cooperative Chemical Inducers of Proximity. [PDF]
Adv Sci (Weinh)We present a versatile DNA‐encoded library (DEL) platform designed for rapid library synthesis and subsequent screening for chemical inducers of proximity (CIPs) across various presenter proteins of choice. Applying this approach, we discovered a novel molecular glue‐like compound mediating CRBN‐BRD9 ternary complex formation with remarkable ...
Tong B +11 more
europepmc +2 more sources
An IDH-independent mechanism of DNA hypermethylation upon VHL inactivation in cancer
Epigenetics, 2022 Hypermethylation of tumour suppressors and other aberrations of DNA methylation in tumours play a significant role in cancer progression. DNA methylation can be affected by various environmental conditions, including hypoxia.
Artem V. Artemov +10 more
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Genetic testing considerations for hereditary duodenopancreatic neuroendocrine tumors. [PDF]
J NeuroendocrinolAbstract The incidence of duodenal and pancreatic neuroendocrine tumors (dpNETs) has increased substantially in recent years. These tumors may be due to syndromic hereditary predisposition syndromes: multiple endocrine neoplasia type 1 (MEN1) or 4 (MEN4), Von Hippel–Lindau disease (VHL), neurofibromatosis type 1 (NF1), or tuberous sclerosis complex ...
Charnay T +13 more
europepmc +2 more sources
Genetic analysis by whole exome sequencing (WES) in a patient with retinal disorder: A Case Study [PDF]
Journal of EpigeneticsObjective: Retinal hemangioblastoma is part of the symptoms of von Hippel-Lindau (VHL) syndrome, which occurs due to mutations in the VHL gene located on chromosome 3.
Ebrahim Rakhshani +3 more
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Ubiquitin/SUMO modification regulates VHL protein stability and nucleocytoplasmic localization. [PDF]
PLoS ONE, 2010 Functional inactivation of the von Hippel-Lindau (VHL) tumor suppressor protein is linked to the development of several forms of cancer as well as oncogenic progression like sporadic renal clear-cell carcinomas (RCC).
Qiliang Cai, Erle S Robertson
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VON HIPPEL-LINDAU SYNDROME: ASPECTS OF TREATMENT AND MANAGEMENT. CASE REPORT AND LITERATURE REVIEW
Архивъ внутренней медицины, 2019 The steadily growing interest in studying of endocrine genetics is driven not only by the search for new pathologies but also by the most pressing need to develop methods for early diagnosis, treatment and management of patients.
I. I. Larina +10 more
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Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma
Frontiers in Endocrinology, 2021 Pheochromocytoma, as a neuroendocrine tumor with the highest genetic correlation in all types of tumors, has attracted extensive attention. Von Hipper Lindau (VHL) has the highest mutation frequency among the genes associated with pheochromocytoma ...
Shuai Gao +6 more
doaj +1 more source
Correlation analysis of VHL and Jade-1 gene expression in human renal cell carcinoma
Open Medicine, 2016 The aim of this study was to investigate the correlation of von Hippel-Lindau tumor suppressor (VHL) mRNA expression and jade family PHD finger 1 (Jade-1) gene expression in patients with renal cell carcinoma (RCC).
Xiao-fen Wu +5 more
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Hipoksiyle İndüklenen Faktör-1: Hücrenin Hipoksiye Fizyolojik ve Patolojik Cevabı
Sakarya Tıp Dergisi, 2014 Oksijen homeostazında kritik bir rol oynayan hipoksiyle indüklenen faktör-1 (HIF-1); anjiyogenezis, eritropoezis, demir metabolizması ve glukoz metabolizması gibi metabolik süreçlerin transkripsiyonel regülatörüdür.
Saygın Hasan Demirel +1 more
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