FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2129211701> ?p ?o ?g. }

• W2129211701 abstract "Inactivation of the FA-BRCA pathway results in chromosomal instability. Fanconi anaemia (FA) patients have an inherited defect in this pathway and are strongly predisposed to the development of acute myeloid leukaemia (AML). Studies in sporadic cancers have shown promoter methylation of the FANCF gene in a significant proportion of various solid tumours. However, only a single leukaemic case with methylation of one of the FA-BRCA genes has been described to date, i.e. methylation of FANCF in cell line CHRF-288. We investigated the presence of aberrant methylation in 11 FA-BRCA genes in sporadic cases of leukaemia.We analyzed promoter methylation in 143 AML bone marrow samples and 97 acute lymphoblastic leukaemia (ALL) samples using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Samples with aberrant methylation were further analyzed by bisulphite sequencing and tested for mitomycin C sensitivity using Colony Forming Units assays.MS-MLPA showed promoter methylation of FANCC in one AML and three ALL samples, while FANCL was found methylated in one ALL sample. Bisulphite sequencing of promoter regions confirmed hypermethylation in all cases. In addition, samples with hypermethylation of either FANCC or FANCL appeared more sensitive towards mitomycin C in Colony Forming Units assays, compared to controls.Hypermethylation of promoter regions from FA-BRCA genes does occur in sporadic leukaemia, albeit infrequently. Hypermethylation was found to result in hypersensitivity towards DNA cross-linking agents, a hallmark of the FA cellular phenotype, suggesting that these samples displayed chromosomal instability. This instability may have contributed to the occurrence of the leukaemia. In addition, this is the first report to describe hypermethylation of FANCC and FANCL. This warrants the investigation of multiple FA-BRCA genes in other malignancies." @default.
• W2129211701 created "2016-06-24" @default.
• W2129211701 creator A5008401318 @default.
• W2129211701 creator A5011203998 @default.
• W2129211701 creator A5033445559 @default.
• W2129211701 creator A5034006572 @default.
• W2129211701 creator A5043037950 @default.
• W2129211701 creator A5048187845 @default.
• W2129211701 creator A5058527184 @default.
• W2129211701 creator A5070729528 @default.
• W2129211701 creator A5076117638 @default.
• W2129211701 creator A5076502958 @default.
• W2129211701 creator A5080912335 @default.
• W2129211701 creator A5090759656 @default.
• W2129211701 date "2008-01-01" @default.
• W2129211701 modified "2023-09-27" @default.
• W2129211701 title "Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia." @default.
• W2129211701 cites W1594730027 @default.
• W2129211701 cites W1991591616 @default.
• W2129211701 cites W2000067413 @default.
• W2129211701 cites W2003058744 @default.
• W2129211701 cites W2016061380 @default.
• W2129211701 cites W2016968143 @default.
• W2129211701 cites W2038386142 @default.
• W2129211701 cites W2042634679 @default.
• W2129211701 cites W2055611673 @default.
• W2129211701 cites W2071782656 @default.
• W2129211701 cites W2074911481 @default.
• W2129211701 cites W2088686475 @default.
• W2129211701 cites W2089548634 @default.
• W2129211701 cites W2090564839 @default.
• W2129211701 cites W2107254805 @default.
• W2129211701 cites W2114907977 @default.
• W2129211701 cites W2124985397 @default.
• W2129211701 cites W2127808743 @default.
• W2129211701 cites W2128686282 @default.
• W2129211701 cites W2128700722 @default.
• W2129211701 cites W2138242793 @default.
• W2129211701 cites W2154856948 @default.
• W2129211701 doi "https://doi.org/10.3233/clo-2008-0426" @default.
• W2129211701 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4618910" @default.
• W2129211701 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18607065" @default.
• W2129211701 hasPublicationYear "2008" @default.
• W2129211701 type Work @default.
• W2129211701 sameAs 2129211701 @default.
• W2129211701 citedByCount "17" @default.
• W2129211701 countsByYear W21292117012012 @default.
• W2129211701 countsByYear W21292117012013 @default.
• W2129211701 countsByYear W21292117012014 @default.
• W2129211701 countsByYear W21292117012015 @default.
• W2129211701 countsByYear W21292117012016 @default.
• W2129211701 countsByYear W21292117012017 @default.
• W2129211701 countsByYear W21292117012018 @default.
• W2129211701 countsByYear W21292117012020 @default.
• W2129211701 countsByYear W21292117012021 @default.
• W2129211701 countsByYear W21292117012022 @default.
• W2129211701 crossrefType "journal-article" @default.
• W2129211701 hasAuthorship W2129211701A5008401318 @default.
• W2129211701 hasAuthorship W2129211701A5011203998 @default.
• W2129211701 hasAuthorship W2129211701A5033445559 @default.
• W2129211701 hasAuthorship W2129211701A5034006572 @default.
• W2129211701 hasAuthorship W2129211701A5043037950 @default.
• W2129211701 hasAuthorship W2129211701A5048187845 @default.
• W2129211701 hasAuthorship W2129211701A5058527184 @default.
• W2129211701 hasAuthorship W2129211701A5070729528 @default.
• W2129211701 hasAuthorship W2129211701A5076117638 @default.
• W2129211701 hasAuthorship W2129211701A5076502958 @default.
• W2129211701 hasAuthorship W2129211701A5080912335 @default.
• W2129211701 hasAuthorship W2129211701A5090759656 @default.
• W2129211701 hasConcept C104317684 @default.
• W2129211701 hasConcept C120599132 @default.
• W2129211701 hasConcept C134935766 @default.
• W2129211701 hasConcept C140752955 @default.
• W2129211701 hasConcept C150194340 @default.
• W2129211701 hasConcept C153911025 @default.
• W2129211701 hasConcept C189235521 @default.
• W2129211701 hasConcept C190727270 @default.
• W2129211701 hasConcept C2778124228 @default.
• W2129211701 hasConcept C30481170 @default.
• W2129211701 hasConcept C33288867 @default.
• W2129211701 hasConcept C36823959 @default.
• W2129211701 hasConcept C502942594 @default.
• W2129211701 hasConcept C54355233 @default.
• W2129211701 hasConcept C86803240 @default.
• W2129211701 hasConceptScore W2129211701C104317684 @default.
• W2129211701 hasConceptScore W2129211701C120599132 @default.
• W2129211701 hasConceptScore W2129211701C134935766 @default.
• W2129211701 hasConceptScore W2129211701C140752955 @default.
• W2129211701 hasConceptScore W2129211701C150194340 @default.
• W2129211701 hasConceptScore W2129211701C153911025 @default.
• W2129211701 hasConceptScore W2129211701C189235521 @default.
• W2129211701 hasConceptScore W2129211701C190727270 @default.
• W2129211701 hasConceptScore W2129211701C2778124228 @default.
• W2129211701 hasConceptScore W2129211701C30481170 @default.
• W2129211701 hasConceptScore W2129211701C33288867 @default.
• W2129211701 hasConceptScore W2129211701C36823959 @default.
• W2129211701 hasConceptScore W2129211701C502942594 @default.
• W2129211701 hasConceptScore W2129211701C54355233 @default.
• W2129211701 hasConceptScore W2129211701C86803240 @default.
• W2129211701 hasLocation W21292117011 @default.

• next