FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2021420439> ?p ?o ?g. }

• W2021420439 endingPage "818" @default.
• W2021420439 startingPage "815" @default.
• W2021420439 abstract "Summary Inactivating germ line BRCA 1‐associated protein‐1 ( BAP1 ) mutations have recently been reported in families with uveal or cutaneous malignant melanoma ( UMM , CMM ), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ line BAP1 mutations has yet to be established. Here, we report a novel germ line BAP1 splice mutation, c.1708 C > G (p.Leu570fs*40), in a multiple‐case D anish UMM family with a spectrum of other tumors. Whole‐exome sequencing identified an apparent missense mutation of BAP1 in UMM , CMM , as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family. Bioinformatic analysis and splicing assays demonstrated that this mutation creates a strong cryptic splice donor, resulting in aberrant splicing and a truncating frameshift of the BAP1 transcript. Somatic loss of the wild‐type allele was also confirmed in the UMM and paraganglioma tumors. Our findings further support BAP1 as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma." @default.
• W2021420439 created "2016-06-24" @default.
• W2021420439 creator A5002049307 @default.
• W2021420439 creator A5009581684 @default.
• W2021420439 creator A5011055578 @default.
• W2021420439 creator A5013186571 @default.
• W2021420439 creator A5031235468 @default.
• W2021420439 creator A5032713796 @default.
• W2021420439 creator A5035751008 @default.
• W2021420439 creator A5042957984 @default.
• W2021420439 creator A5052284583 @default.
• W2021420439 creator A5075480785 @default.
• W2021420439 creator A5078771164 @default.
• W2021420439 date "2012-10-01" @default.
• W2021420439 modified "2023-10-18" @default.
• W2021420439 title "A cryptic<i>BAP1</i>splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma" @default.
• W2021420439 cites W2007541023 @default.
• W2021420439 cites W2008954479 @default.
• W2021420439 cites W2057802075 @default.
• W2021420439 cites W2072630073 @default.
• W2021420439 cites W2104434844 @default.
• W2021420439 cites W2115804583 @default.
• W2021420439 cites W2147450167 @default.
• W2021420439 doi "https://doi.org/10.1111/pcmr.12006" @default.
• W2021420439 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7453745" @default.
• W2021420439 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22889334" @default.
• W2021420439 hasPublicationYear "2012" @default.
• W2021420439 type Work @default.
• W2021420439 sameAs 2021420439 @default.
• W2021420439 citedByCount "112" @default.
• W2021420439 countsByYear W20214204392012 @default.
• W2021420439 countsByYear W20214204392013 @default.
• W2021420439 countsByYear W20214204392014 @default.
• W2021420439 countsByYear W20214204392015 @default.
• W2021420439 countsByYear W20214204392016 @default.
• W2021420439 countsByYear W20214204392017 @default.
• W2021420439 countsByYear W20214204392018 @default.
• W2021420439 countsByYear W20214204392019 @default.
• W2021420439 countsByYear W20214204392020 @default.
• W2021420439 countsByYear W20214204392021 @default.
• W2021420439 countsByYear W20214204392022 @default.
• W2021420439 countsByYear W20214204392023 @default.
• W2021420439 crossrefType "journal-article" @default.
• W2021420439 hasAuthorship W2021420439A5002049307 @default.
• W2021420439 hasAuthorship W2021420439A5009581684 @default.
• W2021420439 hasAuthorship W2021420439A5011055578 @default.
• W2021420439 hasAuthorship W2021420439A5013186571 @default.
• W2021420439 hasAuthorship W2021420439A5031235468 @default.
• W2021420439 hasAuthorship W2021420439A5032713796 @default.
• W2021420439 hasAuthorship W2021420439A5035751008 @default.
• W2021420439 hasAuthorship W2021420439A5042957984 @default.
• W2021420439 hasAuthorship W2021420439A5052284583 @default.
• W2021420439 hasAuthorship W2021420439A5075480785 @default.
• W2021420439 hasAuthorship W2021420439A5078771164 @default.
• W2021420439 hasBestOaLocation W20214204392 @default.
• W2021420439 hasConcept C104317684 @default.
• W2021420439 hasConcept C109825262 @default.
• W2021420439 hasConcept C13514818 @default.
• W2021420439 hasConcept C142724271 @default.
• W2021420439 hasConcept C2776734335 @default.
• W2021420439 hasConcept C2777658100 @default.
• W2021420439 hasConcept C29906990 @default.
• W2021420439 hasConcept C36823959 @default.
• W2021420439 hasConcept C37846818 @default.
• W2021420439 hasConcept C501734568 @default.
• W2021420439 hasConcept C502942594 @default.
• W2021420439 hasConcept C54355233 @default.
• W2021420439 hasConcept C71924100 @default.
• W2021420439 hasConcept C75563809 @default.
• W2021420439 hasConcept C86803240 @default.
• W2021420439 hasConceptScore W2021420439C104317684 @default.
• W2021420439 hasConceptScore W2021420439C109825262 @default.
• W2021420439 hasConceptScore W2021420439C13514818 @default.
• W2021420439 hasConceptScore W2021420439C142724271 @default.
• W2021420439 hasConceptScore W2021420439C2776734335 @default.
• W2021420439 hasConceptScore W2021420439C2777658100 @default.
• W2021420439 hasConceptScore W2021420439C29906990 @default.
• W2021420439 hasConceptScore W2021420439C36823959 @default.
• W2021420439 hasConceptScore W2021420439C37846818 @default.
• W2021420439 hasConceptScore W2021420439C501734568 @default.
• W2021420439 hasConceptScore W2021420439C502942594 @default.
• W2021420439 hasConceptScore W2021420439C54355233 @default.
• W2021420439 hasConceptScore W2021420439C71924100 @default.
• W2021420439 hasConceptScore W2021420439C75563809 @default.
• W2021420439 hasConceptScore W2021420439C86803240 @default.
• W2021420439 hasIssue "6" @default.
• W2021420439 hasLocation W20214204391 @default.
• W2021420439 hasLocation W20214204392 @default.
• W2021420439 hasLocation W20214204393 @default.
• W2021420439 hasOpenAccess W2021420439 @default.
• W2021420439 hasPrimaryLocation W20214204391 @default.
• W2021420439 hasRelatedWork W179064230 @default.
• W2021420439 hasRelatedWork W1973942562 @default.
• W2021420439 hasRelatedWork W2060169551 @default.
• W2021420439 hasRelatedWork W2061329487 @default.
• W2021420439 hasRelatedWork W2081165832 @default.
• W2021420439 hasRelatedWork W2162724184 @default.
• W2021420439 hasRelatedWork W2362650105 @default.

• next