Matches in SemOpenAlex for { <https://semopenalex.org/work/W2790652014> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2790652014 abstract "Head and neck squamous cell carcinomas (HNSCCs) form a heterogeneous tumor entity located throughout the oral cavity, pharynx and larynx that is caused predominantly by chemically or virally induced carcinogenesis. Heterozygous germline mutations in cancer susceptibility genes might also lead to increased incidence of HNSCCs. As DNA stability is typically impaired in HNSCC cells and genes of the Fanconi anemia/BRCA DNA repair pathway can be mutated or down-regulated in HNSCCs, we investigated here whether germline mutations occur in the X-chromosomal FANCB as candidate gene.Germline DNA of 85 consecutive HNSCC patients was sequenced. Missense alterations in FANCB were functionally tested in reference cells.Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of FANCB (rs2188383, rs2375729, rs2905223) and predicted to be associated with normal function. One missense alteration, c.1004G>A resulting in p.G335E (rs41309679), in exon 4 was detected in five men in homozygous and in five women in heterozygous state. Four in silico prediction programs uniformally predicted p.G335E to be associated with loss-of-function of the protein. To clarify these predictions, we expressed the FANCB p.G335E protein in primary human FANCB deficient fibroblasts. Cell cycle analysis of these fibroblasts established that the FANCB p.G335E was functionally indistinguishable from the wildtype FANCB protein. Thus, functional studies in genetically defined cells showed that the p.G335E germline alteration in FANCB is not associated with impaired function." @default.
- W2790652014 created "2018-03-29" @default.
- W2790652014 creator A5003601361 @default.
- W2790652014 creator A5013723262 @default.
- W2790652014 creator A5014476610 @default.
- W2790652014 creator A5017322730 @default.
- W2790652014 creator A5027910943 @default.
- W2790652014 creator A5053144484 @default.
- W2790652014 creator A5056992056 @default.
- W2790652014 creator A5057145239 @default.
- W2790652014 creator A5058942685 @default.
- W2790652014 creator A5071281378 @default.
- W2790652014 creator A5076703927 @default.
- W2790652014 creator A5078494561 @default.
- W2790652014 creator A5086025844 @default.
- W2790652014 date "2018-03-01" @default.
- W2790652014 modified "2023-09-27" @default.
- W2790652014 title "Mutational and Functional Analysis of FANCB as a Candidate Gene for Sporadic Head and Neck Squamous Cell Carcinomas" @default.
- W2790652014 doi "https://doi.org/10.21873/anticanres.12354" @default.
- W2790652014 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29491055" @default.
- W2790652014 hasPublicationYear "2018" @default.
- W2790652014 type Work @default.
- W2790652014 sameAs 2790652014 @default.
- W2790652014 citedByCount "4" @default.
- W2790652014 countsByYear W27906520142020 @default.
- W2790652014 countsByYear W27906520142021 @default.
- W2790652014 countsByYear W27906520142022 @default.
- W2790652014 crossrefType "journal-article" @default.
- W2790652014 hasAuthorship W2790652014A5003601361 @default.
- W2790652014 hasAuthorship W2790652014A5013723262 @default.
- W2790652014 hasAuthorship W2790652014A5014476610 @default.
- W2790652014 hasAuthorship W2790652014A5017322730 @default.
- W2790652014 hasAuthorship W2790652014A5027910943 @default.
- W2790652014 hasAuthorship W2790652014A5053144484 @default.
- W2790652014 hasAuthorship W2790652014A5056992056 @default.
- W2790652014 hasAuthorship W2790652014A5057145239 @default.
- W2790652014 hasAuthorship W2790652014A5058942685 @default.
- W2790652014 hasAuthorship W2790652014A5071281378 @default.
- W2790652014 hasAuthorship W2790652014A5076703927 @default.
- W2790652014 hasAuthorship W2790652014A5078494561 @default.
- W2790652014 hasAuthorship W2790652014A5086025844 @default.
- W2790652014 hasBestOaLocation W27906520141 @default.
- W2790652014 hasConcept C104317684 @default.
- W2790652014 hasConcept C109825262 @default.
- W2790652014 hasConcept C121608353 @default.
- W2790652014 hasConcept C13514818 @default.
- W2790652014 hasConcept C153911025 @default.
- W2790652014 hasConcept C2776530083 @default.
- W2790652014 hasConcept C2776833033 @default.
- W2790652014 hasConcept C2778264664 @default.
- W2790652014 hasConcept C501734568 @default.
- W2790652014 hasConcept C502942594 @default.
- W2790652014 hasConcept C54355233 @default.
- W2790652014 hasConcept C555283112 @default.
- W2790652014 hasConcept C75563809 @default.
- W2790652014 hasConcept C86803240 @default.
- W2790652014 hasConceptScore W2790652014C104317684 @default.
- W2790652014 hasConceptScore W2790652014C109825262 @default.
- W2790652014 hasConceptScore W2790652014C121608353 @default.
- W2790652014 hasConceptScore W2790652014C13514818 @default.
- W2790652014 hasConceptScore W2790652014C153911025 @default.
- W2790652014 hasConceptScore W2790652014C2776530083 @default.
- W2790652014 hasConceptScore W2790652014C2776833033 @default.
- W2790652014 hasConceptScore W2790652014C2778264664 @default.
- W2790652014 hasConceptScore W2790652014C501734568 @default.
- W2790652014 hasConceptScore W2790652014C502942594 @default.
- W2790652014 hasConceptScore W2790652014C54355233 @default.
- W2790652014 hasConceptScore W2790652014C555283112 @default.
- W2790652014 hasConceptScore W2790652014C75563809 @default.
- W2790652014 hasConceptScore W2790652014C86803240 @default.
- W2790652014 hasLocation W27906520141 @default.
- W2790652014 hasLocation W27906520142 @default.
- W2790652014 hasOpenAccess W2790652014 @default.
- W2790652014 hasPrimaryLocation W27906520141 @default.
- W2790652014 hasRelatedWork W1562693820 @default.
- W2790652014 hasRelatedWork W1973128227 @default.
- W2790652014 hasRelatedWork W2010720786 @default.
- W2790652014 hasRelatedWork W2064509393 @default.
- W2790652014 hasRelatedWork W2090437258 @default.
- W2790652014 hasRelatedWork W2114514635 @default.
- W2790652014 hasRelatedWork W2157292965 @default.
- W2790652014 hasRelatedWork W2201808132 @default.
- W2790652014 hasRelatedWork W2790652014 @default.
- W2790652014 hasRelatedWork W4232569475 @default.
- W2790652014 isParatext "false" @default.
- W2790652014 isRetracted "false" @default.
- W2790652014 magId "2790652014" @default.
- W2790652014 workType "article" @default.