FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3008199611> ?p ?o ?g. }

• W3008199611 endingPage "248" @default.
• W3008199611 startingPage "248" @default.
• W3008199611 abstract "Fragile X syndrome (FXS) is mostly due to the expansion and subsequent methylation of a polymorphic CGG repeat in the 5’ UTR of the FMR1 gene. Full mutation alleles (FM) have more than 200 repeats and result in FMR1 gene silencing and FXS. FMs arise from maternal premutations (PM) that have 56–200 CGGs; contractions of a maternal PM or FM are rare. Here, we describe two unaffected boys in two independent FXS families who inherited a non-mosaic allele in the normal and intermediate range, respectively, from their mothers who are carriers of an expanded CGG allele. The first boy inherited a 51 CGG allele (without AGG interruptions) from his mother, who carries a PM allele with 72 CGGs. The other boy inherited from his FM mother an unusual allele with 19 CGGs resulting from a deletion, removing 85 bp upstream of the CGG repeat. Given that transcription of the deleted allele was found to be preserved, we assume that the binding sites for FMR1 transcription factors are excluded from the deletion. Such unusual cases resulting in non-mosaic reduction of maternal CGG expansions may help to clarify the molecular mechanisms underlying the instability of the FMR1 gene." @default.
• W3008199611 created "2020-03-06" @default.
• W3008199611 creator A5003174745 @default.
• W3008199611 creator A5007993502 @default.
• W3008199611 creator A5020504485 @default.
• W3008199611 creator A5020769869 @default.
• W3008199611 creator A5024021695 @default.
• W3008199611 creator A5035873220 @default.
• W3008199611 creator A5050835352 @default.
• W3008199611 creator A5051084815 @default.
• W3008199611 creator A5065150931 @default.
• W3008199611 creator A5083823520 @default.
• W3008199611 date "2020-02-26" @default.
• W3008199611 modified "2023-09-30" @default.
• W3008199611 title "Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families" @default.
• W3008199611 cites W1964924484 @default.
• W3008199611 cites W1973888286 @default.
• W3008199611 cites W1985923029 @default.
• W3008199611 cites W1988498459 @default.
• W3008199611 cites W2001588996 @default.
• W3008199611 cites W2015403997 @default.
• W3008199611 cites W2018154673 @default.
• W3008199611 cites W2022257681 @default.
• W3008199611 cites W2022472203 @default.
• W3008199611 cites W2051013729 @default.
• W3008199611 cites W2052936741 @default.
• W3008199611 cites W2063677087 @default.
• W3008199611 cites W2074053990 @default.
• W3008199611 cites W2079388473 @default.
• W3008199611 cites W2085155163 @default.
• W3008199611 cites W2088094988 @default.
• W3008199611 cites W2104346867 @default.
• W3008199611 cites W2112483783 @default.
• W3008199611 cites W2121389760 @default.
• W3008199611 cites W2149919973 @default.
• W3008199611 cites W2167119720 @default.
• W3008199611 cites W2170086437 @default.
• W3008199611 cites W2522674394 @default.
• W3008199611 cites W2540516097 @default.
• W3008199611 cites W2766580043 @default.
• W3008199611 cites W2805953722 @default.
• W3008199611 cites W2932253469 @default.
• W3008199611 cites W2943443676 @default.
• W3008199611 cites W2090490723 @default.
• W3008199611 doi "https://doi.org/10.3390/genes11030248" @default.
• W3008199611 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7140891" @default.
• W3008199611 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32111011" @default.
• W3008199611 hasPublicationYear "2020" @default.
• W3008199611 type Work @default.
• W3008199611 sameAs 3008199611 @default.
• W3008199611 citedByCount "6" @default.
• W3008199611 countsByYear W30081996112021 @default.
• W3008199611 countsByYear W30081996112022 @default.
• W3008199611 countsByYear W30081996112023 @default.
• W3008199611 crossrefType "journal-article" @default.
• W3008199611 hasAuthorship W3008199611A5003174745 @default.
• W3008199611 hasAuthorship W3008199611A5007993502 @default.
• W3008199611 hasAuthorship W3008199611A5020504485 @default.
• W3008199611 hasAuthorship W3008199611A5020769869 @default.
• W3008199611 hasAuthorship W3008199611A5024021695 @default.
• W3008199611 hasAuthorship W3008199611A5035873220 @default.
• W3008199611 hasAuthorship W3008199611A5050835352 @default.
• W3008199611 hasAuthorship W3008199611A5051084815 @default.
• W3008199611 hasAuthorship W3008199611A5065150931 @default.
• W3008199611 hasAuthorship W3008199611A5083823520 @default.
• W3008199611 hasBestOaLocation W30081996111 @default.
• W3008199611 hasConcept C104317684 @default.
• W3008199611 hasConcept C119056186 @default.
• W3008199611 hasConcept C127716648 @default.
• W3008199611 hasConcept C180754005 @default.
• W3008199611 hasConcept C2777630245 @default.
• W3008199611 hasConcept C2779063550 @default.
• W3008199611 hasConcept C54355233 @default.
• W3008199611 hasConcept C70883133 @default.
• W3008199611 hasConcept C86803240 @default.
• W3008199611 hasConceptScore W3008199611C104317684 @default.
• W3008199611 hasConceptScore W3008199611C119056186 @default.
• W3008199611 hasConceptScore W3008199611C127716648 @default.
• W3008199611 hasConceptScore W3008199611C180754005 @default.
• W3008199611 hasConceptScore W3008199611C2777630245 @default.
• W3008199611 hasConceptScore W3008199611C2779063550 @default.
• W3008199611 hasConceptScore W3008199611C54355233 @default.
• W3008199611 hasConceptScore W3008199611C70883133 @default.
• W3008199611 hasConceptScore W3008199611C86803240 @default.
• W3008199611 hasFunder F4320321179 @default.
• W3008199611 hasIssue "3" @default.
• W3008199611 hasLocation W30081996111 @default.
• W3008199611 hasLocation W30081996112 @default.
• W3008199611 hasLocation W30081996113 @default.
• W3008199611 hasLocation W30081996114 @default.
• W3008199611 hasOpenAccess W3008199611 @default.
• W3008199611 hasPrimaryLocation W30081996111 @default.
• W3008199611 hasRelatedWork W1964924484 @default.
• W3008199611 hasRelatedWork W1997375278 @default.
• W3008199611 hasRelatedWork W2017343535 @default.
• W3008199611 hasRelatedWork W2022472203 @default.
• W3008199611 hasRelatedWork W2063127778 @default.
• W3008199611 hasRelatedWork W2097927344 @default.

• next