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Träfflista för sökning "WFRF:(Aartsma Rus Annemieke) srt2:(2011-2014)"

Sökning: WFRF:(Aartsma Rus Annemieke) > (2011-2014)

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1.
  • Ayoglu, Burcu, et al. (författare)
  • Affinity proteomics within rare diseases : a BIO-NMD study for blood biomarkers of muscular dystrophies
  • 2014
  • Ingår i: EMBO Molecular Medicine. - : EMBO. - 1757-4676 .- 1757-4684. ; 6:7, s. 918-936
  • Tidskriftsartikel (refereegranskat)abstract
    • Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. We addressed this challenge by combining samples collected within the BIO-NMD consortium from four geographically dispersed clinical sites to identify protein markers associated with muscular dystrophy using an antibody bead array platform with 384 antibodies. Based on concordance in statistical significance and confirmatory results obtained from analysis of both serum and plasma, we identified eleven proteins associated with muscular dystrophy, among which four proteins were elevated in blood from muscular dystrophy patients: carbonic anhydrase III (CA3) and myosin light chain 3 (MYL3), both specifically expressed in slow-twitch muscle fibers and mitochondrial malate dehydrogenase 2 (MDH2) and electron transfer flavo-protein A (ETFA). Using age-matched sub-cohorts, 9 protein profiles correlating with disease progression and severity were identified, which hold promise for the development of new clinical tools for management of dystrophinopathies.
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2.
  • Goemans, Nathalie M, et al. (författare)
  • Systemic administration of PRO051 in Duchenne's muscular dystrophy.
  • 2011
  • Ingår i: The New England journal of medicine. - 1533-4406. ; 364:16, s. 1513-22
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Local intramuscular administration of the antisense oligonucleotide PRO051 in patients with Duchenne's muscular dystrophy with relevant mutations was previously reported to induce the skipping of exon 51 during pre-messenger RNA splicing of the dystrophin gene and to facilitate new dystrophin expression in muscle-fiber membranes. The present phase 1-2a study aimed to assess the safety, pharmacokinetics, and molecular and clinical effects of systemically administered PRO051.
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