Matches in SemOpenAlex for { <https://semopenalex.org/work/W2888749940> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2888749940 endingPage "674" @default.
- W2888749940 startingPage "670" @default.
- W2888749940 abstract "Abstract DDX41 has recently been identified as a new autosomal dominantly inherited cancer predisposition syndrome causing increased risk of adult onset acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). We report for the first time compound heterozygote germline missense DDX41 mutations located in the DEAD‐box domain, identified in two siblings by exome sequencing. Both siblings have slight dysmorphic findings, psychomotor delays and intellectual disability, and one developed blastic plasmacytoid dendritic cell neoplasm (BPDCN) at age five. RNA‐sequencing of bone marrow showed DDX41 expression including both mutations. However, the allele fraction of p.Pro321Leu accounted for 96% in the RNA‐sequencing indicating this mutation to be the more significant variant. Exome sequencing of the leukemic blasts identified no additional known driver mutations. There is no pattern indicating autosomal dominantly inherited cancer predisposition in the family, but the father has sarcoidosis, which has been associated with heterozygous DDX41 mutation. We propose that bi‐allelic mutations in DDX41 could potentially be a new cancer predisposition syndrome associated with delayed psychomotor development." @default.
- W2888749940 created "2018-08-31" @default.
- W2888749940 creator A5006055158 @default.
- W2888749940 creator A5007917870 @default.
- W2888749940 creator A5016993209 @default.
- W2888749940 creator A5068522304 @default.
- W2888749940 creator A5074845542 @default.
- W2888749940 creator A5082571409 @default.
- W2888749940 creator A5089751067 @default.
- W2888749940 date "2018-10-11" @default.
- W2888749940 modified "2023-09-30" @default.
- W2888749940 title "Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in <i>DDX41</i>" @default.
- W2888749940 cites W1978030902 @default.
- W2888749940 cites W2032810694 @default.
- W2888749940 cites W2065340429 @default.
- W2888749940 cites W2082646723 @default.
- W2888749940 cites W2085192138 @default.
- W2888749940 cites W2098897153 @default.
- W2888749940 cites W2101161126 @default.
- W2888749940 cites W2125834136 @default.
- W2888749940 cites W2155890232 @default.
- W2888749940 cites W2295998134 @default.
- W2888749940 cites W2320609306 @default.
- W2888749940 cites W2518901523 @default.
- W2888749940 cites W2542390763 @default.
- W2888749940 cites W2563221599 @default.
- W2888749940 cites W2588342380 @default.
- W2888749940 cites W2598250379 @default.
- W2888749940 cites W2600312941 @default.
- W2888749940 cites W2618018693 @default.
- W2888749940 cites W2743424336 @default.
- W2888749940 cites W2745522463 @default.
- W2888749940 cites W2756267360 @default.
- W2888749940 doi "https://doi.org/10.1002/gcc.22680" @default.
- W2888749940 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30144193" @default.
- W2888749940 hasPublicationYear "2018" @default.
- W2888749940 type Work @default.
- W2888749940 sameAs 2888749940 @default.
- W2888749940 citedByCount "15" @default.
- W2888749940 countsByYear W28887499402019 @default.
- W2888749940 countsByYear W28887499402020 @default.
- W2888749940 countsByYear W28887499402021 @default.
- W2888749940 countsByYear W28887499402022 @default.
- W2888749940 countsByYear W28887499402023 @default.
- W2888749940 crossrefType "journal-article" @default.
- W2888749940 hasAuthorship W2888749940A5006055158 @default.
- W2888749940 hasAuthorship W2888749940A5007917870 @default.
- W2888749940 hasAuthorship W2888749940A5016993209 @default.
- W2888749940 hasAuthorship W2888749940A5068522304 @default.
- W2888749940 hasAuthorship W2888749940A5074845542 @default.
- W2888749940 hasAuthorship W2888749940A5082571409 @default.
- W2888749940 hasAuthorship W2888749940A5089751067 @default.
- W2888749940 hasConcept C104317684 @default.
- W2888749940 hasConcept C10590036 @default.
- W2888749940 hasConcept C109825262 @default.
- W2888749940 hasConcept C13514818 @default.
- W2888749940 hasConcept C16671776 @default.
- W2888749940 hasConcept C180754005 @default.
- W2888749940 hasConcept C2778461978 @default.
- W2888749940 hasConcept C2778729363 @default.
- W2888749940 hasConcept C501734568 @default.
- W2888749940 hasConcept C502942594 @default.
- W2888749940 hasConcept C54355233 @default.
- W2888749940 hasConcept C75563809 @default.
- W2888749940 hasConcept C86803240 @default.
- W2888749940 hasConceptScore W2888749940C104317684 @default.
- W2888749940 hasConceptScore W2888749940C10590036 @default.
- W2888749940 hasConceptScore W2888749940C109825262 @default.
- W2888749940 hasConceptScore W2888749940C13514818 @default.
- W2888749940 hasConceptScore W2888749940C16671776 @default.
- W2888749940 hasConceptScore W2888749940C180754005 @default.
- W2888749940 hasConceptScore W2888749940C2778461978 @default.
- W2888749940 hasConceptScore W2888749940C2778729363 @default.
- W2888749940 hasConceptScore W2888749940C501734568 @default.
- W2888749940 hasConceptScore W2888749940C502942594 @default.
- W2888749940 hasConceptScore W2888749940C54355233 @default.
- W2888749940 hasConceptScore W2888749940C75563809 @default.
- W2888749940 hasConceptScore W2888749940C86803240 @default.
- W2888749940 hasIssue "12" @default.
- W2888749940 hasLocation W28887499401 @default.
- W2888749940 hasLocation W28887499402 @default.
- W2888749940 hasOpenAccess W2888749940 @default.
- W2888749940 hasPrimaryLocation W28887499401 @default.
- W2888749940 hasRelatedWork W1906082248 @default.
- W2888749940 hasRelatedWork W1995692004 @default.
- W2888749940 hasRelatedWork W2041831812 @default.
- W2888749940 hasRelatedWork W2064509393 @default.
- W2888749940 hasRelatedWork W2157292965 @default.
- W2888749940 hasRelatedWork W2159173718 @default.
- W2888749940 hasRelatedWork W2224157968 @default.
- W2888749940 hasRelatedWork W3022731769 @default.
- W2888749940 hasRelatedWork W4231970220 @default.
- W2888749940 hasRelatedWork W4246688662 @default.
- W2888749940 hasVolume "57" @default.
- W2888749940 isParatext "false" @default.
- W2888749940 isRetracted "false" @default.
- W2888749940 magId "2888749940" @default.
- W2888749940 workType "article" @default.