FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3206318473> ?p ?o ?g. }

• W3206318473 abstract "Von Hippel-Lindau (VHL) disease is the main cause of inherited clear-cell renal cell carcinoma (ccRCC) and is caused by germline mutations in the VHL tumor suppressor gene. Bi-allelic VHL alterations lead to inactivation of pVHL, which plays a major role by downstream activation of the hypoxia inducible factor (HIF) pathway. Somatic VHL mutations occur in 80% of sporadic ccRCC cases and the second most frequently mutated gene is polybromo 1 (PBRM1). As there is currently no data regarding PBRM1 involvement in VHL disease-associated ccRCC, the aim of the present study was to assess the PBRM1 mutational status, and PBRM1 and HIF expression in VHL disease-associated ccRCC series compared with a sporadic series. PBRM1 gene was screened by Sanger sequencing for 23 VHL-disease-associated ccRCC and 22 sporadic ccRCC cases. Immunohistochemical studies were performed to detect the expression of PBRM1, HIF1 and HIF2 for all cases. In VHL-associated tumors, 13.0% (n=3/23) had PBRM1 somatic mutations and 17.4% (n=4/23) had a loss of PBRM1 nuclear expression. In sporadic cases, 27.3% (n=6/22) showed PBRM1 somatic mutations and 45.5% (n=10/22) had a loss of PBRM1 nuclear expression. Loss of PBRM1 was associated with an advanced tumor stage. HIF1-positive tumors were observed more frequently in the VHL-associated ccRCC than in the sporadic series. Furthermore, in the VHL cohort, PBRM1 expression appeared to be associated more with HIF1 than with HIF2. Given that hereditary tumors tend to be less aggressive, these results would suggest that co-expression of PBRM1 and HIF1 may have a less oncogenic role in VHL-associated ccRCC." @default.
• W3206318473 created "2021-10-25" @default.
• W3206318473 creator A5000438872 @default.
• W3206318473 creator A5002406245 @default.
• W3206318473 creator A5004016605 @default.
• W3206318473 creator A5004174935 @default.
• W3206318473 creator A5011660053 @default.
• W3206318473 creator A5034931061 @default.
• W3206318473 creator A5039053890 @default.
• W3206318473 creator A5041508066 @default.
• W3206318473 creator A5049307510 @default.
• W3206318473 creator A5058270449 @default.
• W3206318473 creator A5058460775 @default.
• W3206318473 creator A5060404154 @default.
• W3206318473 creator A5064557037 @default.
• W3206318473 creator A5068213998 @default.
• W3206318473 creator A5070618438 @default.
• W3206318473 creator A5073171018 @default.
• W3206318473 creator A5074948548 @default.
• W3206318473 creator A5083305562 @default.
• W3206318473 creator A5089113215 @default.
• W3206318473 date "2021-10-15" @default.
• W3206318473 modified "2023-10-18" @default.
• W3206318473 title "Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway" @default.
• W3206318473 cites W1581943076 @default.
• W3206318473 cites W1608091617 @default.
• W3206318473 cites W1991408439 @default.
• W3206318473 cites W2015644147 @default.
• W3206318473 cites W2024064023 @default.
• W3206318473 cites W2030869361 @default.
• W3206318473 cites W2052271345 @default.
• W3206318473 cites W2053027458 @default.
• W3206318473 cites W2079212177 @default.
• W3206318473 cites W2080571195 @default.
• W3206318473 cites W2092892924 @default.
• W3206318473 cites W2094518946 @default.
• W3206318473 cites W2115295135 @default.
• W3206318473 cites W2115494288 @default.
• W3206318473 cites W2136109165 @default.
• W3206318473 cites W2139415312 @default.
• W3206318473 cites W2150575159 @default.
• W3206318473 cites W2220466394 @default.
• W3206318473 cites W2284518822 @default.
• W3206318473 cites W2340753924 @default.
• W3206318473 cites W2534662364 @default.
• W3206318473 cites W2572400449 @default.
• W3206318473 cites W2573357293 @default.
• W3206318473 cites W2602238141 @default.
• W3206318473 cites W2797702016 @default.
• W3206318473 cites W2803130581 @default.
• W3206318473 cites W2899245424 @default.
• W3206318473 cites W2909146129 @default.
• W3206318473 cites W3049040124 @default.
• W3206318473 cites W3089803871 @default.
• W3206318473 cites W4210899999 @default.
• W3206318473 cites W4212967922 @default.
• W3206318473 doi "https://doi.org/10.3892/ol.2021.13096" @default.
• W3206318473 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8548775" @default.
• W3206318473 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34712359" @default.
• W3206318473 hasPublicationYear "2021" @default.
• W3206318473 type Work @default.
• W3206318473 sameAs 3206318473 @default.
• W3206318473 citedByCount "3" @default.
• W3206318473 countsByYear W32063184732022 @default.
• W3206318473 countsByYear W32063184732023 @default.
• W3206318473 crossrefType "journal-article" @default.
• W3206318473 hasAuthorship W3206318473A5000438872 @default.
• W3206318473 hasAuthorship W3206318473A5002406245 @default.
• W3206318473 hasAuthorship W3206318473A5004016605 @default.
• W3206318473 hasAuthorship W3206318473A5004174935 @default.
• W3206318473 hasAuthorship W3206318473A5011660053 @default.
• W3206318473 hasAuthorship W3206318473A5034931061 @default.
• W3206318473 hasAuthorship W3206318473A5039053890 @default.
• W3206318473 hasAuthorship W3206318473A5041508066 @default.
• W3206318473 hasAuthorship W3206318473A5049307510 @default.
• W3206318473 hasAuthorship W3206318473A5058270449 @default.
• W3206318473 hasAuthorship W3206318473A5058460775 @default.
• W3206318473 hasAuthorship W3206318473A5060404154 @default.
• W3206318473 hasAuthorship W3206318473A5064557037 @default.
• W3206318473 hasAuthorship W3206318473A5068213998 @default.
• W3206318473 hasAuthorship W3206318473A5070618438 @default.
• W3206318473 hasAuthorship W3206318473A5073171018 @default.
• W3206318473 hasAuthorship W3206318473A5074948548 @default.
• W3206318473 hasAuthorship W3206318473A5083305562 @default.
• W3206318473 hasAuthorship W3206318473A5089113215 @default.
• W3206318473 hasBestOaLocation W32063184731 @default.
• W3206318473 hasConcept C104317684 @default.
• W3206318473 hasConcept C121608353 @default.
• W3206318473 hasConcept C126322002 @default.
• W3206318473 hasConcept C13514818 @default.
• W3206318473 hasConcept C142724271 @default.
• W3206318473 hasConcept C2777472916 @default.
• W3206318473 hasConcept C2777658100 @default.
• W3206318473 hasConcept C2778264664 @default.
• W3206318473 hasConcept C2781278892 @default.
• W3206318473 hasConcept C37846818 @default.
• W3206318473 hasConcept C501734568 @default.
• W3206318473 hasConcept C502942594 @default.
• W3206318473 hasConcept C54355233 @default.
• W3206318473 hasConcept C555283112 @default.

• next