FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1993885354> ?p ?o ?g. }

• W1993885354 abstract "Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P<0.0001). Each mutation segregates with Wilms tumour in the family and a second mutational event is present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. These data establish CTR9 as a Wilms tumour predisposition gene and suggest it acts as a tumour suppressor gene. Wilms tumour is a childhood kidney cancer that affects 1 in 10,000 children. Here the authors exome sequence 12 individuals with non-syndromic Wilms tumour from six unrelated families and find mutations in CTR9 that may increase risk of developing the disease." @default.
• W1993885354 created "2016-06-24" @default.
• W1993885354 creator A5000096044 @default.
• W1993885354 creator A5005679554 @default.
• W1993885354 creator A5010014233 @default.
• W1993885354 creator A5010583901 @default.
• W1993885354 creator A5011806725 @default.
• W1993885354 creator A5011857990 @default.
• W1993885354 creator A5014138723 @default.
• W1993885354 creator A5015127150 @default.
• W1993885354 creator A5021281491 @default.
• W1993885354 creator A5035410237 @default.
• W1993885354 creator A5036290091 @default.
• W1993885354 creator A5044179048 @default.
• W1993885354 creator A5051988707 @default.
• W1993885354 creator A5082467051 @default.
• W1993885354 creator A5083547072 @default.
• W1993885354 creator A5087201733 @default.
• W1993885354 creator A5091418824 @default.
• W1993885354 date "2014-08-07" @default.
• W1993885354 modified "2023-10-03" @default.
• W1993885354 title "Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour" @default.
• W1993885354 cites W1512421662 @default.
• W1993885354 cites W1964932556 @default.
• W1993885354 cites W1990541836 @default.
• W1993885354 cites W2030628544 @default.
• W1993885354 cites W2069871720 @default.
• W1993885354 cites W2104330134 @default.
• W1993885354 cites W2109504889 @default.
• W1993885354 cites W2114244323 @default.
• W1993885354 cites W2117513049 @default.
• W1993885354 cites W2131429752 @default.
• W1993885354 cites W2133212095 @default.
• W1993885354 cites W2159733516 @default.
• W1993885354 cites W2169024565 @default.
• W1993885354 doi "https://doi.org/10.1038/ncomms5398" @default.
• W1993885354 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4143912" @default.
• W1993885354 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25099282" @default.
• W1993885354 hasPublicationYear "2014" @default.
• W1993885354 type Work @default.
• W1993885354 sameAs 1993885354 @default.
• W1993885354 citedByCount "75" @default.
• W1993885354 countsByYear W19938853542014 @default.
• W1993885354 countsByYear W19938853542015 @default.
• W1993885354 countsByYear W19938853542016 @default.
• W1993885354 countsByYear W19938853542017 @default.
• W1993885354 countsByYear W19938853542018 @default.
• W1993885354 countsByYear W19938853542019 @default.
• W1993885354 countsByYear W19938853542020 @default.
• W1993885354 countsByYear W19938853542021 @default.
• W1993885354 countsByYear W19938853542022 @default.
• W1993885354 countsByYear W19938853542023 @default.
• W1993885354 crossrefType "journal-article" @default.
• W1993885354 hasAuthorship W1993885354A5000096044 @default.
• W1993885354 hasAuthorship W1993885354A5005679554 @default.
• W1993885354 hasAuthorship W1993885354A5010014233 @default.
• W1993885354 hasAuthorship W1993885354A5010583901 @default.
• W1993885354 hasAuthorship W1993885354A5011806725 @default.
• W1993885354 hasAuthorship W1993885354A5011857990 @default.
• W1993885354 hasAuthorship W1993885354A5014138723 @default.
• W1993885354 hasAuthorship W1993885354A5015127150 @default.
• W1993885354 hasAuthorship W1993885354A5021281491 @default.
• W1993885354 hasAuthorship W1993885354A5035410237 @default.
• W1993885354 hasAuthorship W1993885354A5036290091 @default.
• W1993885354 hasAuthorship W1993885354A5044179048 @default.
• W1993885354 hasAuthorship W1993885354A5051988707 @default.
• W1993885354 hasAuthorship W1993885354A5082467051 @default.
• W1993885354 hasAuthorship W1993885354A5083547072 @default.
• W1993885354 hasAuthorship W1993885354A5087201733 @default.
• W1993885354 hasAuthorship W1993885354A5091418824 @default.
• W1993885354 hasBestOaLocation W19938853541 @default.
• W1993885354 hasConcept C104317684 @default.
• W1993885354 hasConcept C10590036 @default.
• W1993885354 hasConcept C109825262 @default.
• W1993885354 hasConcept C13514818 @default.
• W1993885354 hasConcept C16671776 @default.
• W1993885354 hasConcept C2775999222 @default.
• W1993885354 hasConcept C3017462232 @default.
• W1993885354 hasConcept C501734568 @default.
• W1993885354 hasConcept C502942594 @default.
• W1993885354 hasConcept C54355233 @default.
• W1993885354 hasConcept C76818968 @default.
• W1993885354 hasConcept C86803240 @default.
• W1993885354 hasConceptScore W1993885354C104317684 @default.
• W1993885354 hasConceptScore W1993885354C10590036 @default.
• W1993885354 hasConceptScore W1993885354C109825262 @default.
• W1993885354 hasConceptScore W1993885354C13514818 @default.
• W1993885354 hasConceptScore W1993885354C16671776 @default.
• W1993885354 hasConceptScore W1993885354C2775999222 @default.
• W1993885354 hasConceptScore W1993885354C3017462232 @default.
• W1993885354 hasConceptScore W1993885354C501734568 @default.
• W1993885354 hasConceptScore W1993885354C502942594 @default.
• W1993885354 hasConceptScore W1993885354C54355233 @default.
• W1993885354 hasConceptScore W1993885354C76818968 @default.
• W1993885354 hasConceptScore W1993885354C86803240 @default.
• W1993885354 hasIssue "1" @default.
• W1993885354 hasLocation W19938853541 @default.
• W1993885354 hasLocation W19938853542 @default.
• W1993885354 hasLocation W19938853543 @default.
• W1993885354 hasLocation W19938853544 @default.

• next