FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2057173844> ?p ?o ?g. }

• W2057173844 endingPage "280" @default.
• W2057173844 startingPage "267" @default.
• W2057173844 abstract "DM1 (myotonic dystrophy type 1) is caused by elongation of a CTG repeat in the DMPK (dystrophia myotonica-protein kinase) gene. mRNA transcripts containing these CUGexp (CUG expansion) repeats form accumulations, or foci, in the nucleus of the cell. The pathogenesis of DM1 is proposed to result from inappropriate patterns of alternative splicing caused by sequestration of the developmentally regulated alternative splicing factor MBNL1 (muscleblind-like 1) by these foci. Since eye lens cataract is a common feature of DM1 we have examined the distribution and dynamics of MBNL1 in lens epithelial cell lines derived from patients with DM1. The results of the present study demonstrate that only a small proportion of nuclear MBNL1 accumulates in CUGexp pre-mRNA foci. MBNL1 is, however, highly mobile and changes localization in response to altered transcription and splicing activity. Moreover, immunolocalization studies in lens sections suggest that a change in MBNL1 distribution is important during lens growth and differentiation. Although these data suggest that the loss of MBNL1 function due to accumulation in foci is an unlikely explanation for DM1 symptoms in the lens, they do demonstrate a strong relationship between the subcellular MBNL1 localization and pathways of cellular differentiation, providing an insight into the sensitivity of the lens to changes in MBNL1 distribution." @default.
• W2057173844 created "2016-06-24" @default.
• W2057173844 creator A5027617773 @default.
• W2057173844 creator A5044123043 @default.
• W2057173844 creator A5045584307 @default.
• W2057173844 date "2014-02-14" @default.
• W2057173844 modified "2023-10-10" @default.
• W2057173844 title "Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1" @default.
• W2057173844 cites W1879316584 @default.
• W2057173844 cites W1965817096 @default.
• W2057173844 cites W1972492443 @default.
• W2057173844 cites W1983214323 @default.
• W2057173844 cites W1983489516 @default.
• W2057173844 cites W1984059453 @default.
• W2057173844 cites W1986022917 @default.
• W2057173844 cites W1988326309 @default.
• W2057173844 cites W1990393476 @default.
• W2057173844 cites W1992481904 @default.
• W2057173844 cites W1992972857 @default.
• W2057173844 cites W1994674028 @default.
• W2057173844 cites W1996110208 @default.
• W2057173844 cites W2002112358 @default.
• W2057173844 cites W2003976766 @default.
• W2057173844 cites W2007423023 @default.
• W2057173844 cites W2010052786 @default.
• W2057173844 cites W2012145036 @default.
• W2057173844 cites W2013963839 @default.
• W2057173844 cites W2016912597 @default.
• W2057173844 cites W2019731882 @default.
• W2057173844 cites W2019842407 @default.
• W2057173844 cites W2020138247 @default.
• W2057173844 cites W2020334159 @default.
• W2057173844 cites W2023126119 @default.
• W2057173844 cites W2025871346 @default.
• W2057173844 cites W2032851845 @default.
• W2057173844 cites W2036517002 @default.
• W2057173844 cites W2039961720 @default.
• W2057173844 cites W2041422071 @default.
• W2057173844 cites W2047621839 @default.
• W2057173844 cites W2048741046 @default.
• W2057173844 cites W2050410313 @default.
• W2057173844 cites W2053072630 @default.
• W2057173844 cites W2054246547 @default.
• W2057173844 cites W2062087165 @default.
• W2057173844 cites W2063936397 @default.
• W2057173844 cites W2067382966 @default.
• W2057173844 cites W2078217107 @default.
• W2057173844 cites W2081280332 @default.
• W2057173844 cites W2092831145 @default.
• W2057173844 cites W2099090650 @default.
• W2057173844 cites W2109436341 @default.
• W2057173844 cites W2113918626 @default.
• W2057173844 cites W2120235717 @default.
• W2057173844 cites W2123560621 @default.
• W2057173844 cites W2140074138 @default.
• W2057173844 cites W2141602707 @default.
• W2057173844 cites W2153489172 @default.
• W2057173844 cites W2155742225 @default.
• W2057173844 cites W2157035190 @default.
• W2057173844 cites W2168216574 @default.
• W2057173844 cites W2172290143 @default.
• W2057173844 cites W4246488417 @default.
• W2057173844 doi "https://doi.org/10.1042/bj20130870" @default.
• W2057173844 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24354850" @default.
• W2057173844 hasPublicationYear "2014" @default.
• W2057173844 type Work @default.
• W2057173844 sameAs 2057173844 @default.
• W2057173844 citedByCount "9" @default.
• W2057173844 countsByYear W20571738442014 @default.
• W2057173844 countsByYear W20571738442015 @default.
• W2057173844 countsByYear W20571738442016 @default.
• W2057173844 countsByYear W20571738442019 @default.
• W2057173844 countsByYear W20571738442020 @default.
• W2057173844 countsByYear W20571738442021 @default.
• W2057173844 countsByYear W20571738442022 @default.
• W2057173844 crossrefType "journal-article" @default.
• W2057173844 hasAuthorship W2057173844A5027617773 @default.
• W2057173844 hasAuthorship W2057173844A5044123043 @default.
• W2057173844 hasAuthorship W2057173844A5045584307 @default.
• W2057173844 hasBestOaLocation W20571738442 @default.
• W2057173844 hasConcept C104317684 @default.
• W2057173844 hasConcept C105580179 @default.
• W2057173844 hasConcept C194583182 @default.
• W2057173844 hasConcept C2778063965 @default.
• W2057173844 hasConcept C54355233 @default.
• W2057173844 hasConcept C54458228 @default.
• W2057173844 hasConcept C67705224 @default.
• W2057173844 hasConcept C86803240 @default.
• W2057173844 hasConcept C95444343 @default.
• W2057173844 hasConceptScore W2057173844C104317684 @default.
• W2057173844 hasConceptScore W2057173844C105580179 @default.
• W2057173844 hasConceptScore W2057173844C194583182 @default.
• W2057173844 hasConceptScore W2057173844C2778063965 @default.
• W2057173844 hasConceptScore W2057173844C54355233 @default.
• W2057173844 hasConceptScore W2057173844C54458228 @default.
• W2057173844 hasConceptScore W2057173844C67705224 @default.
• W2057173844 hasConceptScore W2057173844C86803240 @default.
• W2057173844 hasConceptScore W2057173844C95444343 @default.

• next