FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1987001800> ?p ?o ?g. }

• W1987001800 endingPage "163" @default.
• W1987001800 startingPage "154" @default.
• W1987001800 abstract "Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement. We have employed oligonucleotide-based comparative genomic hybridization arrays (aCGH) of different resolutions (44 and 244K) as well as a 1 M single nucleotide polymorphism (SNP) array to analyze this complex rearrangement. Our analyses reveal a complex rearrangement involving a ∼2.21 Mb interstitial deletion, a ∼240 kb terminal deletion, and a 70–80 kb region in between these two deletions that shows maintenance of genomic copy number. The interstitial deletion contains eight known genes, including three Forkhead box containing (FOX) transcription factors (FOXQ1, FOXF2, and FOXC1). The region maintaining genomic copy number partly overlaps the dual specificity protein phosphatase 22 (DUSP22) gene. Array analyses suggest a homozygous loss of genomic material at the 5′ end of DUSP22, which was corroborated using TaqMan® copy number analysis. It is possible that this homozygous genomic loss may render both copies of DUSP22 or its products non-functional. Our analysis suggests a rearrangement mechanism distinct from a previously reported replication-based error-prone mechanism without template switching for a specific 6p25 rearrangement with a 1.22 Mb interstitial deletion. Our study demonstrates the utility and limitations of using oligonucleotide-based aCGH and SNP array technologies of increasing resolutions in order to identify complex DNA rearrangements and gene disruptions. © 2010 Wiley-Liss, Inc." @default.
• W1987001800 created "2016-06-24" @default.
• W1987001800 creator A5011359876 @default.
• W1987001800 creator A5017732426 @default.
• W1987001800 creator A5019288569 @default.
• W1987001800 creator A5048681280 @default.
• W1987001800 creator A5054324215 @default.
• W1987001800 creator A5071843040 @default.
• W1987001800 date "2010-12-10" @default.
• W1987001800 modified "2023-10-17" @default.
• W1987001800 title "A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia" @default.
• W1987001800 cites W1961443954 @default.
• W1987001800 cites W1966392116 @default.
• W1987001800 cites W1971972795 @default.
• W1987001800 cites W1973689502 @default.
• W1987001800 cites W1973755623 @default.
• W1987001800 cites W1981725456 @default.
• W1987001800 cites W1982130479 @default.
• W1987001800 cites W1997012973 @default.
• W1987001800 cites W1997647094 @default.
• W1987001800 cites W2007325090 @default.
• W1987001800 cites W2011335970 @default.
• W1987001800 cites W2014033221 @default.
• W1987001800 cites W2017565802 @default.
• W1987001800 cites W2022522458 @default.
• W1987001800 cites W2034526956 @default.
• W1987001800 cites W2050590709 @default.
• W1987001800 cites W2055937107 @default.
• W1987001800 cites W2080237339 @default.
• W1987001800 cites W2088239147 @default.
• W1987001800 cites W2102112915 @default.
• W1987001800 cites W2105985098 @default.
• W1987001800 cites W2107277218 @default.
• W1987001800 cites W2112393097 @default.
• W1987001800 cites W2114171866 @default.
• W1987001800 cites W2136683793 @default.
• W1987001800 cites W2142332109 @default.
• W1987001800 cites W2142701631 @default.
• W1987001800 cites W2147429782 @default.
• W1987001800 cites W2162927194 @default.
• W1987001800 cites W2169470584 @default.
• W1987001800 cites W2329157909 @default.
• W1987001800 cites W4249769475 @default.
• W1987001800 doi "https://doi.org/10.1002/ajmg.a.33751" @default.
• W1987001800 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4533830" @default.
• W1987001800 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21204225" @default.
• W1987001800 hasPublicationYear "2010" @default.
• W1987001800 type Work @default.
• W1987001800 sameAs 1987001800 @default.
• W1987001800 citedByCount "13" @default.
• W1987001800 countsByYear W19870018002012 @default.
• W1987001800 countsByYear W19870018002013 @default.
• W1987001800 countsByYear W19870018002015 @default.
• W1987001800 countsByYear W19870018002016 @default.
• W1987001800 countsByYear W19870018002018 @default.
• W1987001800 countsByYear W19870018002020 @default.
• W1987001800 countsByYear W19870018002021 @default.
• W1987001800 countsByYear W19870018002023 @default.
• W1987001800 crossrefType "journal-article" @default.
• W1987001800 hasAuthorship W1987001800A5011359876 @default.
• W1987001800 hasAuthorship W1987001800A5017732426 @default.
• W1987001800 hasAuthorship W1987001800A5019288569 @default.
• W1987001800 hasAuthorship W1987001800A5048681280 @default.
• W1987001800 hasAuthorship W1987001800A5054324215 @default.
• W1987001800 hasAuthorship W1987001800A5071843040 @default.
• W1987001800 hasBestOaLocation W19870018002 @default.
• W1987001800 hasConcept C104317684 @default.
• W1987001800 hasConcept C120821319 @default.
• W1987001800 hasConcept C122060243 @default.
• W1987001800 hasConcept C124942203 @default.
• W1987001800 hasConcept C135763542 @default.
• W1987001800 hasConcept C141231307 @default.
• W1987001800 hasConcept C153209595 @default.
• W1987001800 hasConcept C17757408 @default.
• W1987001800 hasConcept C2992511266 @default.
• W1987001800 hasConcept C54355233 @default.
• W1987001800 hasConcept C7602840 @default.
• W1987001800 hasConcept C86803240 @default.
• W1987001800 hasConceptScore W1987001800C104317684 @default.
• W1987001800 hasConceptScore W1987001800C120821319 @default.
• W1987001800 hasConceptScore W1987001800C122060243 @default.
• W1987001800 hasConceptScore W1987001800C124942203 @default.
• W1987001800 hasConceptScore W1987001800C135763542 @default.
• W1987001800 hasConceptScore W1987001800C141231307 @default.
• W1987001800 hasConceptScore W1987001800C153209595 @default.
• W1987001800 hasConceptScore W1987001800C17757408 @default.
• W1987001800 hasConceptScore W1987001800C2992511266 @default.
• W1987001800 hasConceptScore W1987001800C54355233 @default.
• W1987001800 hasConceptScore W1987001800C7602840 @default.
• W1987001800 hasConceptScore W1987001800C86803240 @default.
• W1987001800 hasIssue "1" @default.
• W1987001800 hasLocation W19870018001 @default.
• W1987001800 hasLocation W19870018002 @default.
• W1987001800 hasLocation W19870018003 @default.
• W1987001800 hasLocation W19870018004 @default.
• W1987001800 hasLocation W19870018005 @default.
• W1987001800 hasOpenAccess W1987001800 @default.
• W1987001800 hasPrimaryLocation W19870018001 @default.

• next