Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079403837> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2079403837 endingPage "152" @default.
- W2079403837 startingPage "145" @default.
- W2079403837 abstract "Fanconi anemia (FA) is an autosomal recessive syndrome associated with hypersensitivity to DNA cross-linking agents and predisposition to neoplasia. Eight complementation groups (A-H) have been described, but the only FA genes cloned so far are FAC and FAA. We have recently identified 40 different germline mutations, including microdeletions, microinsertions, and point mutations in genomic DNA from 97 FA patients from the International Fanconi Anemia Registry (IFAR) by single-strand conformational polymorphism (SSCP) analysis. Interestingly, only one mutant allele was identified in many of these patients. Haplotype analysis with intragenic polymorphisms, as well as cDNA analysis of some patients suggested the presence of large deletions that would not be detected by SSCP analysis. In this study, we report the occurrence of Alu-mediated genomic deletions in FAA. Two different deletions of 1.2 kb and 1.9 kb were found. Both deletions include exons 16 and 17 and remove a 156-bp segment from the transcript causing a shorter in-frame message. Sequence analysis revealed that introns 15 and 17 are rich in partial and complete Alu repeats. There are at least four head-to-tail arranged Alu elements in intron 17 and one in intron 15, all oriented in the 3'-->5' direction. Sequence analysis of the deletions showed that the 5' breakpoints occurred at different sites in the same Alu element in intron 15, while the 3' breakpoints were located in different Alu repeats in intron 17. Numerous Alu repeats are present in FAA, suggesting that Alu-mediated recombination might be an important mechanism for the generation of FAA mutations." @default.
- W2079403837 created "2016-06-24" @default.
- W2079403837 creator A5010297697 @default.
- W2079403837 creator A5065995811 @default.
- W2079403837 creator A5090505314 @default.
- W2079403837 date "1998-01-01" @default.
- W2079403837 modified "2023-10-16" @default.
- W2079403837 title "Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA" @default.
- W2079403837 cites W109463599 @default.
- W2079403837 cites W1559146544 @default.
- W2079403837 cites W1583606054 @default.
- W2079403837 cites W1992115026 @default.
- W2079403837 cites W1997104526 @default.
- W2079403837 cites W2009318535 @default.
- W2079403837 cites W2013743651 @default.
- W2079403837 cites W2017312352 @default.
- W2079403837 cites W2022682937 @default.
- W2079403837 cites W2033086630 @default.
- W2079403837 cites W2033310811 @default.
- W2079403837 cites W2044329004 @default.
- W2079403837 cites W2055734019 @default.
- W2079403837 cites W2065417936 @default.
- W2079403837 cites W2067793595 @default.
- W2079403837 cites W2086579330 @default.
- W2079403837 cites W2103195302 @default.
- W2079403837 cites W2115957711 @default.
- W2079403837 cites W2167994535 @default.
- W2079403837 cites W2170715936 @default.
- W2079403837 cites W3117462546 @default.
- W2079403837 cites W4302183079 @default.
- W2079403837 doi "https://doi.org/10.1002/(sici)1098-1004(1998)12:3<145::aid-humu2>3.0.co;2-g" @default.
- W2079403837 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9711872" @default.
- W2079403837 hasPublicationYear "1998" @default.
- W2079403837 type Work @default.
- W2079403837 sameAs 2079403837 @default.
- W2079403837 citedByCount "47" @default.
- W2079403837 countsByYear W20794038372012 @default.
- W2079403837 countsByYear W20794038372013 @default.
- W2079403837 countsByYear W20794038372014 @default.
- W2079403837 countsByYear W20794038372015 @default.
- W2079403837 countsByYear W20794038372017 @default.
- W2079403837 countsByYear W20794038372019 @default.
- W2079403837 countsByYear W20794038372021 @default.
- W2079403837 countsByYear W20794038372022 @default.
- W2079403837 crossrefType "journal-article" @default.
- W2079403837 hasAuthorship W2079403837A5010297697 @default.
- W2079403837 hasAuthorship W2079403837A5065995811 @default.
- W2079403837 hasAuthorship W2079403837A5090505314 @default.
- W2079403837 hasBestOaLocation W20794038371 @default.
- W2079403837 hasConcept C104317684 @default.
- W2079403837 hasConcept C134935766 @default.
- W2079403837 hasConcept C141231307 @default.
- W2079403837 hasConcept C153911025 @default.
- W2079403837 hasConcept C17757408 @default.
- W2079403837 hasConcept C197077220 @default.
- W2079403837 hasConcept C2778124228 @default.
- W2079403837 hasConcept C36823959 @default.
- W2079403837 hasConcept C48931128 @default.
- W2079403837 hasConcept C54355233 @default.
- W2079403837 hasConcept C61053724 @default.
- W2079403837 hasConcept C86803240 @default.
- W2079403837 hasConcept C94671646 @default.
- W2079403837 hasConceptScore W2079403837C104317684 @default.
- W2079403837 hasConceptScore W2079403837C134935766 @default.
- W2079403837 hasConceptScore W2079403837C141231307 @default.
- W2079403837 hasConceptScore W2079403837C153911025 @default.
- W2079403837 hasConceptScore W2079403837C17757408 @default.
- W2079403837 hasConceptScore W2079403837C197077220 @default.
- W2079403837 hasConceptScore W2079403837C2778124228 @default.
- W2079403837 hasConceptScore W2079403837C36823959 @default.
- W2079403837 hasConceptScore W2079403837C48931128 @default.
- W2079403837 hasConceptScore W2079403837C54355233 @default.
- W2079403837 hasConceptScore W2079403837C61053724 @default.
- W2079403837 hasConceptScore W2079403837C86803240 @default.
- W2079403837 hasConceptScore W2079403837C94671646 @default.
- W2079403837 hasIssue "3" @default.
- W2079403837 hasLocation W20794038371 @default.
- W2079403837 hasLocation W20794038372 @default.
- W2079403837 hasOpenAccess W2079403837 @default.
- W2079403837 hasPrimaryLocation W20794038371 @default.
- W2079403837 hasRelatedWork W1571443412 @default.
- W2079403837 hasRelatedWork W1968511762 @default.
- W2079403837 hasRelatedWork W2037918956 @default.
- W2079403837 hasRelatedWork W2038993942 @default.
- W2079403837 hasRelatedWork W2039352533 @default.
- W2079403837 hasRelatedWork W2046089186 @default.
- W2079403837 hasRelatedWork W2052622993 @default.
- W2079403837 hasRelatedWork W2082941385 @default.
- W2079403837 hasRelatedWork W2092554027 @default.
- W2079403837 hasRelatedWork W4242521457 @default.
- W2079403837 hasVolume "12" @default.
- W2079403837 isParatext "false" @default.
- W2079403837 isRetracted "false" @default.
- W2079403837 magId "2079403837" @default.
- W2079403837 workType "article" @default.