IndraLab

Statements

BAP1 decreases the amount of BAP1. 4 / 5
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"Using patient derived lymphoblastoid cell lines, we found that carriers of pathogenic BAP1 germline variants (c. 852_del and c. 1358_1359del) had reduced expression of full-length BAP1, Vimentin and Snail, as compared to controls with wild-type BAP1 (BAP1 WT), whereas BAP1 germline VUS (c. 299T> C and c. 551A> G) or likely benign carriers were not significantly different from wild-type BAP1 WT."
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"Furthermore, the BAP1 expression pattern observed in the Human Protein Atlas supports an inverse correlation between BAP1 expression and cell motility, with blood cells, known for their high motility, showing notably lower levels of BAP1 expression (Supplementary Fig. 2 of the SI)."
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"These results are consistent with no observed change in cell cycle profile in skin fibroblasts taken from BAP1 heterozygous individuals that had reduced BAP1 protein levels [18], although different responses in other cell types cannot be excluded."
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"This result is perhaps surprising given that BAP1 inactivation or loss of BAP1 expression has been detected using IHC and whole-exome sequencing in approximately 25% of the intrahepatic CCAs [XREF_BIBR, XREF_BIBR, XREF_BIBR]."
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