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BAP1 - Wikipedia
https://en.wikipedia.org/wiki/BAP1
WEBBRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) is a deubiquitinating enzyme that in humans is encoded by the BAP1 gene. BAP1 encodes an 80.4 kDa nuclear-localizing protein with a ubiquitin carboxy-terminal hydrolase (UCH) domain that gives BAP1 its deubiquitinase activity.
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BAP1 Tumor Predisposition Syndrome - GeneReviews® - NCBI …
https://www.ncbi.nlm.nih.gov/books/NBK390611/
WEBOct 13, 2016 · BAP1 tumor predisposition syndrome ( BAP1 -TPDS) is associated with an increased risk for a specific skin lesion, BAP1 -inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous …
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BAP1 tumor predisposition syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome/
WEBBAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium).
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Roles and mechanisms of BAP1 deubiquitinase in tumor suppression
https://www.nature.com/articles/s41418-020-00709-4
WEBJan 18, 2021 · BAP1 is the most frequently mutated deubiquitinase in human cancers and is a major tumor suppressor. BAP1 germline mutations provide a model for gene–environment interactions in carcinogenesis.
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BAP1 gene: MedlinePlus Genetics
https://medlineplus.gov/genetics/gene/bap1/
WEBThe BAP1 gene provides instructions for making a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1). Learn about this gene and related health conditions.
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Clinical practice guidelines for the diagnosis and surveillance of BAP1
https://www.nature.com/articles/s41431-023-01448-z
WEBAug 22, 2023 · BRCA1-associated protein-1 ( BAP1) was identified as a tumour suppressor gene in 2008 [ 1 ]. Germline pathogenic variants (GPV, including likely pathogenic variants) in BAP1 have subsequently...
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BAP1 Gene - GeneCards | BAP1 Protein | BAP1 Antibody
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BAP1
WEBApr 2, 2024 · GeneCards Summary for BAP1 Gene. BAP1 (BRCA1 Associated Protein 1) is a Protein Coding gene. Diseases associated with BAP1 include Kury-Isidor Syndrome and Tumor Predisposition Syndrome 1 . Among its related pathways are Metabolism of proteins and Homology Directed Repair .
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BAP1 as a guardian of genome stability: implications in human
https://www.nature.com/articles/s12276-023-00979-1
WEBApr 3, 2023 · BAP1 carries a nuclear localization signal (NLS) in the C-terminus and functions in both the nucleus and cytoplasm. The ubiquitin-conjugating enzyme UBE2O monoubiquitinates BAP1 at multiple...
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BAP1: Not Just a BRCA1-Associated Protein - PMC - National …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655689/
WEBBRCA1-Associated Protein 1 (BAP1) is a ubiquitin carboxy-terminal hydrolase that has been established as a tumor suppressor, utilizing its deubiquitinating activity to regulate a number of processes including DNA damage repair, cell cycle control, chromatin modification, programmed cell death, and the immune response.
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BAP1: role in carcinogenesis and clinical implications - PMC
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082261/
WEBNov 24, 2019 · BRCA-1 associated protein 1 ( BAP1) is a tumor suppressor gene that has been implicated in the pathogenesis of several malignancies and is gaining more recognition as a crucial gene that could be amenable to therapeutic manipulation.
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