FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2109872029> ?p ?o ?g. }

• W2109872029 endingPage "414" @default.
• W2109872029 startingPage "408" @default.
• W2109872029 abstract "X-chromosome inactivation (XCI) is an epigenetic process used to regulate gene dosage in mammalian females by silencing genes on one X-chromosome. While the pattern of XCI is typically random in normal females, abnormalities of the X-chromosome may result in skewing due to disadvantaged cell growth. We describe a female patient with an X;1 translocation [46,X,t(X;1)(q28;q21)] and unusual pattern of XCI who demonstrates functional disomy of the Xq28 region distal to the translocation breakpoint. There was complete skewing of XCI in the patient, along with the atypical findings of an active normal X chromosome and an inactive derivative X. Characterization of the translocation revealed that the patient's Xq28 breakpoint interrupts the DKC1 gene. Molecular analysis of the breakpoint region revealed functional disomy of Xq28 genes distal to DKC1. We propose that atypical XCI occurred in the patient due to a post-inactivation cell selection mechanism likely initiated by disruption of DKC1. As a result, the pattern of XCI is opposite that of the expected for an X;autosome translocation. Therefore, we suggest the phenotypic abnormalities found in the patient are a result of functional disomy in the Xq28 region. © 2009 Wiley-Liss, Inc." @default.
• W2109872029 created "2016-06-24" @default.
• W2109872029 creator A5001874478 @default.
• W2109872029 creator A5006908499 @default.
• W2109872029 creator A5008484705 @default.
• W2109872029 creator A5024828337 @default.
• W2109872029 creator A5046135979 @default.
• W2109872029 creator A5049877571 @default.
• W2109872029 creator A5060280629 @default.
• W2109872029 creator A5072585376 @default.
• W2109872029 date "2009-03-01" @default.
• W2109872029 modified "2023-10-17" @default.
• W2109872029 title "Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy" @default.
• W2109872029 cites W1969410155 @default.
• W2109872029 cites W1975384318 @default.
• W2109872029 cites W1977129262 @default.
• W2109872029 cites W1982303333 @default.
• W2109872029 cites W1987746977 @default.
• W2109872029 cites W2011264089 @default.
• W2109872029 cites W2020958409 @default.
• W2109872029 cites W2022507466 @default.
• W2109872029 cites W2029146706 @default.
• W2109872029 cites W2035488976 @default.
• W2109872029 cites W2040624896 @default.
• W2109872029 cites W2046658771 @default.
• W2109872029 cites W2060392690 @default.
• W2109872029 cites W2103148772 @default.
• W2109872029 cites W2108595723 @default.
• W2109872029 cites W2120048655 @default.
• W2109872029 cites W2131164541 @default.
• W2109872029 cites W2145191876 @default.
• W2109872029 cites W2166898290 @default.
• W2109872029 cites W2167851191 @default.
• W2109872029 cites W2168783124 @default.
• W2109872029 cites W2412390225 @default.
• W2109872029 doi "https://doi.org/10.1002/ajmg.a.32699" @default.
• W2109872029 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2709101" @default.
• W2109872029 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19215059" @default.
• W2109872029 hasPublicationYear "2009" @default.
• W2109872029 type Work @default.
• W2109872029 sameAs 2109872029 @default.
• W2109872029 citedByCount "10" @default.
• W2109872029 countsByYear W21098720292012 @default.
• W2109872029 countsByYear W21098720292017 @default.
• W2109872029 countsByYear W21098720292018 @default.
• W2109872029 countsByYear W21098720292020 @default.
• W2109872029 countsByYear W21098720292021 @default.
• W2109872029 crossrefType "journal-article" @default.
• W2109872029 hasAuthorship W2109872029A5001874478 @default.
• W2109872029 hasAuthorship W2109872029A5006908499 @default.
• W2109872029 hasAuthorship W2109872029A5008484705 @default.
• W2109872029 hasAuthorship W2109872029A5024828337 @default.
• W2109872029 hasAuthorship W2109872029A5046135979 @default.
• W2109872029 hasAuthorship W2109872029A5049877571 @default.
• W2109872029 hasAuthorship W2109872029A5060280629 @default.
• W2109872029 hasAuthorship W2109872029A5072585376 @default.
• W2109872029 hasBestOaLocation W21098720292 @default.
• W2109872029 hasConcept C104317684 @default.
• W2109872029 hasConcept C138626823 @default.
• W2109872029 hasConcept C206936463 @default.
• W2109872029 hasConcept C2590687 @default.
• W2109872029 hasConcept C2777082864 @default.
• W2109872029 hasConcept C2780332060 @default.
• W2109872029 hasConcept C30481170 @default.
• W2109872029 hasConcept C35158069 @default.
• W2109872029 hasConcept C4323932 @default.
• W2109872029 hasConcept C53226629 @default.
• W2109872029 hasConcept C54355233 @default.
• W2109872029 hasConcept C86803240 @default.
• W2109872029 hasConceptScore W2109872029C104317684 @default.
• W2109872029 hasConceptScore W2109872029C138626823 @default.
• W2109872029 hasConceptScore W2109872029C206936463 @default.
• W2109872029 hasConceptScore W2109872029C2590687 @default.
• W2109872029 hasConceptScore W2109872029C2777082864 @default.
• W2109872029 hasConceptScore W2109872029C2780332060 @default.
• W2109872029 hasConceptScore W2109872029C30481170 @default.
• W2109872029 hasConceptScore W2109872029C35158069 @default.
• W2109872029 hasConceptScore W2109872029C4323932 @default.
• W2109872029 hasConceptScore W2109872029C53226629 @default.
• W2109872029 hasConceptScore W2109872029C54355233 @default.
• W2109872029 hasConceptScore W2109872029C86803240 @default.
• W2109872029 hasIssue "3" @default.
• W2109872029 hasLocation W21098720291 @default.
• W2109872029 hasLocation W21098720292 @default.
• W2109872029 hasLocation W21098720293 @default.
• W2109872029 hasLocation W21098720294 @default.
• W2109872029 hasLocation W21098720295 @default.
• W2109872029 hasOpenAccess W2109872029 @default.
• W2109872029 hasPrimaryLocation W21098720291 @default.
• W2109872029 hasRelatedWork W2010896265 @default.
• W2109872029 hasRelatedWork W2011697466 @default.
• W2109872029 hasRelatedWork W2014759067 @default.
• W2109872029 hasRelatedWork W2109872029 @default.
• W2109872029 hasRelatedWork W2133680630 @default.
• W2109872029 hasRelatedWork W2135629488 @default.
• W2109872029 hasRelatedWork W3158431664 @default.
• W2109872029 hasRelatedWork W3183713320 @default.
• W2109872029 hasRelatedWork W4245229219 @default.

• next