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Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Gallou C, Human mutation, 1999, PMID ...
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The VHL c.481C>T; p.Arg161Ter variant (rs5030818), also known as c.694C>T for traditional nomenclature, is reported multiple times in the literature in ...
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20 thg 8, 2019 · Von Hippel–Lindau (VHL) disease is a rare autosomal-dominant ... The mean age at onset for the common VHL lesions in the c.194C > T p.
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1 thg 10, 2020 · However, most mutations occur in the exons [4]. To date, no cases of intron 2 of VHL associated with CNS HGBs have been reported. Here, we ...
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27 thg 2, 2020 · von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations ...
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Abstract. BACKGROUND Germline mutations of the VHL gene cause von Hippel-Lindau syndrome (VHL). In southern Germany, a specific mutation in this gene, c.505 ...
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VHL protein (pVHL) encoded by the Vhl gene was further revealed as a ... of VHL to ubiquitinate HIF-1α due to changes in C-terminal region of VHL was ...
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Complex of recombinant human proteins ELOB (Elongin-B), ELOC (Elongin-C) and VHL (von Hippel-Lindau disease tumor suppressor), full length, ...
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Background: ELOB/ELOC/VHL Complex. Together, Elongin B (ELOB) and Elongin C (ELOC) form a heterodimer that serves as the regulatory subunit for the Elongin ...
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6 thg 6, 2022 · The VHL gene product encodes pVHL, which binds to elongin C, elongin B, cullin-2 and Rbx1. This complex catalyzes the polyubiquitinylation of ...
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The product of the VHL gene, pVHL, forms a multimeric complex that contains, at a minimum, elongin B, elongin C, Cul2 and Rbx1 (also called ROC1 or Hrt1) (2 ...
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2 thg 8, 2018 · Chuvash polycythemia arises from a homozygous c.598C>T p.Arg200Trp (R200W) mutation in the VHL gene. This specific VHL R200W mutation has ...
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17 thg 11, 2014 · Table 4. Annual screening investigations in patients with von Hippel-Lindau (VHL) disease. http://www.karger.com/WebMaterial ...
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in elongin C that bind to pVHL have been described in ccRCC28, supporting the hypothesis that the tumorigenic effects of. VHL mutations relate to ...
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