FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2076120862> ?p ?o ?g. }

• W2076120862 endingPage "e80263" @default.
• W2076120862 startingPage "e80263" @default.
• W2076120862 abstract "Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open reading frame, while in frame mutations result in Becker muscular dystrophy (BMD). Ullrich congenital muscular dystrophy (UCMD) is due to mutations affecting collagen VI genes. Specific muscle miRNAs (dystromirs) are potential non-invasive biomarkers for monitoring the outcome of therapeutic interventions and disease progression. We quantified miR-1, miR-133a,b, miR-206 and miR-31 in serum from patients with DMD, BMD, UCMD and healthy controls. MiR-1, miR-133a,b and miR-206 were upregulated in DMD, but unchanged in UCMD compared to controls. Milder DMD patients had higher levels of dystromirs than more severely affected patients. Patients with low forced vital capacity (FVC) values, indicating respiratory muscle weakness, had low levels of serum miR-1 and miR-133b. There was no significant difference in the level of the dystromirs in BMD compared to controls. We also assessed the effect of dystrophin restoration on the expression of the five dystromirs in serum of DMD patients treated systemically for 12 weeks with antisense oligomer eteplirsen that induces skipping of exon 51 in the dystrophin gene. The dystromirs were also analysed in muscle biopsies of DMD patients included in a single dose intramuscular eteplirsen clinical trial. Our analysis detected a trend towards normalization of these miRNA between the pre- and post-treatment samples of the systemic trial, which however failed to reach statistical significance. This could possibly be due to the small number of patients and the short duration of these clinical trials. Although longer term studies are needed to clarify the relationship between dystrophin restoration following therapeutic intervention and the level of circulating miRNAs, our results indicate that miR-1 and miR-133 can be considered as exploratory biomarkers for monitoring the progression of muscle weakness and indirectly the remaining muscle mass in DMD." @default.
• W2076120862 created "2016-06-24" @default.
• W2076120862 creator A5008225042 @default.
• W2076120862 creator A5012227405 @default.
• W2076120862 creator A5023248855 @default.
• W2076120862 creator A5025842975 @default.
• W2076120862 creator A5027305120 @default.
• W2076120862 creator A5035668808 @default.
• W2076120862 creator A5042500656 @default.
• W2076120862 creator A5042698472 @default.
• W2076120862 creator A5046261021 @default.
• W2076120862 creator A5069633523 @default.
• W2076120862 creator A5069991592 @default.
• W2076120862 creator A5076364419 @default.
• W2076120862 creator A5084668009 @default.
• W2076120862 creator A5089234882 @default.
• W2076120862 date "2013-11-25" @default.
• W2076120862 modified "2023-10-14" @default.
• W2076120862 title "Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy" @default.
• W2076120862 cites W1533447420 @default.
• W2076120862 cites W1966161605 @default.
• W2076120862 cites W1970902340 @default.
• W2076120862 cites W1971321550 @default.
• W2076120862 cites W1978523507 @default.
• W2076120862 cites W1986903527 @default.
• W2076120862 cites W1993013702 @default.
• W2076120862 cites W2001634180 @default.
• W2076120862 cites W2001895697 @default.
• W2076120862 cites W2007123925 @default.
• W2076120862 cites W2015181454 @default.
• W2076120862 cites W2034180487 @default.
• W2076120862 cites W2040718007 @default.
• W2076120862 cites W2050096298 @default.
• W2076120862 cites W2051741101 @default.
• W2076120862 cites W2054795920 @default.
• W2076120862 cites W2058425371 @default.
• W2076120862 cites W2062665453 @default.
• W2076120862 cites W2089449761 @default.
• W2076120862 cites W2094107076 @default.
• W2076120862 cites W2098043285 @default.
• W2076120862 cites W2106854179 @default.
• W2076120862 cites W2113949094 @default.
• W2076120862 cites W2115093090 @default.
• W2076120862 cites W2115718669 @default.
• W2076120862 cites W2116484895 @default.
• W2076120862 cites W2141619720 @default.
• W2076120862 cites W2143137761 @default.
• W2076120862 cites W2153844934 @default.
• W2076120862 cites W2157085976 @default.
• W2076120862 cites W2158156749 @default.
• W2076120862 cites W2159796957 @default.
• W2076120862 cites W2164867418 @default.
• W2076120862 cites W2327656791 @default.
• W2076120862 cites W2328278423 @default.
• W2076120862 cites W2504565036 @default.
• W2076120862 doi "https://doi.org/10.1371/journal.pone.0080263" @default.
• W2076120862 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3840009" @default.
• W2076120862 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24282529" @default.
• W2076120862 hasPublicationYear "2013" @default.
• W2076120862 type Work @default.
• W2076120862 sameAs 2076120862 @default.
• W2076120862 citedByCount "128" @default.
• W2076120862 countsByYear W20761208622014 @default.
• W2076120862 countsByYear W20761208622015 @default.
• W2076120862 countsByYear W20761208622016 @default.
• W2076120862 countsByYear W20761208622017 @default.
• W2076120862 countsByYear W20761208622018 @default.
• W2076120862 countsByYear W20761208622019 @default.
• W2076120862 countsByYear W20761208622020 @default.
• W2076120862 countsByYear W20761208622021 @default.
• W2076120862 countsByYear W20761208622022 @default.
• W2076120862 countsByYear W20761208622023 @default.
• W2076120862 crossrefType "journal-article" @default.
• W2076120862 hasAuthorship W2076120862A5008225042 @default.
• W2076120862 hasAuthorship W2076120862A5012227405 @default.
• W2076120862 hasAuthorship W2076120862A5023248855 @default.
• W2076120862 hasAuthorship W2076120862A5025842975 @default.
• W2076120862 hasAuthorship W2076120862A5027305120 @default.
• W2076120862 hasAuthorship W2076120862A5035668808 @default.
• W2076120862 hasAuthorship W2076120862A5042500656 @default.
• W2076120862 hasAuthorship W2076120862A5042698472 @default.
• W2076120862 hasAuthorship W2076120862A5046261021 @default.
• W2076120862 hasAuthorship W2076120862A5069633523 @default.
• W2076120862 hasAuthorship W2076120862A5069991592 @default.
• W2076120862 hasAuthorship W2076120862A5076364419 @default.
• W2076120862 hasAuthorship W2076120862A5084668009 @default.
• W2076120862 hasAuthorship W2076120862A5089234882 @default.
• W2076120862 hasBestOaLocation W20761208621 @default.
• W2076120862 hasConcept C126322002 @default.
• W2076120862 hasConcept C142724271 @default.
• W2076120862 hasConcept C2777300911 @default.
• W2076120862 hasConcept C2778943923 @default.
• W2076120862 hasConcept C2779030066 @default.
• W2076120862 hasConcept C2780394045 @default.
• W2076120862 hasConcept C60644358 @default.
• W2076120862 hasConcept C71924100 @default.
• W2076120862 hasConcept C86803240 @default.
• W2076120862 hasConcept C90924648 @default.

• next