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Träfflista för sökning "WFRF:(van Ommen Gert Jan) srt2:(2011)"

Search: WFRF:(van Ommen Gert Jan) > (2011)

  • Result 1-3 of 3
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1.
  • Goemans, Nathalie M, et al. (author)
  • Systemic administration of PRO051 in Duchenne's muscular dystrophy.
  • 2011
  • In: The New England journal of medicine. - 1533-4406. ; 364:16, s. 1513-22
  • Journal article (other academic/artistic)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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2.
  • Wichmann, H-Erich, et al. (author)
  • Comprehensive catalog of European biobanks
  • 2011
  • In: Nature Biotechnology. - : Springer Science and Business Media LLC. - 1087-0156 .- 1546-1696. ; 29:9, s. 795-797
  • Journal article (peer-reviewed)
  •  
3.
  • Lundmark, Per Erik, 1976- (author)
  • Genetic and Genomic Analysis of DNA Sequence Variation
  • 2011
  • Doctoral thesis (other academic/artistic)abstract
    • The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. NPC1 was found to affect hepatic triglyceride metabolism, and to be relevant for controlling serum triglyceride levels in mice and potentially in humans. In study II the utility of the HapMap CEU samples was investigated for tagSNP selection in six European populations. The HapMap CEU was found to be representative for tagSNP selection in all populations while allele frequencies differed significantly in the sample from Kuusamo, Finland. In study III the power of Allele specific expression as a tool for the mapping of cis-regulatory variation was compared to standard eQTL analysis, ASE was found to be the more powerful type of analysis for a similar sample size. Finally ASE mapping was applied to regions reported to harbour long non-coding RNAs and associated SNPs were compared to published trait-associations. This revealed strong cis-regulatory SNPs of long non-coding RNAs with reported trait or disease associations.
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  • Result 1-3 of 3
Type of publication
journal article (2)
doctoral thesis (1)
Type of content
other academic/artistic (2)
peer-reviewed (1)
Author/Editor
Perola, Markus (1)
Landegren, Ulf (1)
Syvänen, Ann-Christi ... (1)
Michaëlsson, Karl, P ... (1)
Wichmann, H. Erich (1)
Waldenberger, Melani ... (1)
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Peltonen, Leena (1)
Litton, Jan-Eric (1)
Metspalu, Andres (1)
Meitinger, Thomas (1)
Tulinius, Mar, 1953 (1)
Darin, Niklas, 1964 (1)
Burton, Paul R. (1)
Aartsma-Rus, Annemie ... (1)
Cambon-Thomsen, Anne (1)
Taussig, Michael J. (1)
van Ommen, Gert-Jan ... (1)
Zatloukal, Kurt (1)
Bovenberg, Jasper (1)
Fransson, Martin N. (1)
Fortier, Isabel (1)
Buyse, Gunnar (1)
Goemans, Nathalie M (1)
van den Akker, Johan ... (1)
Burm, Brigitte E (1)
Ekhart, Peter F (1)
Heuvelmans, Niki (1)
Holling, Tjadine (1)
Janson, Anneke A (1)
Platenburg, Gerard J (1)
Sipkens, Jessica A (1)
Sitsen, J M Ad (1)
Verschuuren, Jan J (1)
Campion, Giles V (1)
de Kimpe, Sjef J (1)
van Deutekom, Judith ... (1)
van Ommen, Gert Jan (1)
Eder, Johann (1)
Lundmark, Per Erik, ... (1)
van Ommen, Gert-Jan ... (1)
Riegman, Peter (1)
Dagher, Georges (1)
Kuhn, Klaus A. (1)
Schmelcher, Dominik (1)
Schuffenhauer, Simon ... (1)
Wurst, Sebastian H. ... (1)
Lamla, Gregor (1)
Griffith, Michael (1)
Yuille, Martin (1)
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University
Uppsala University (2)
University of Gothenburg (1)
Karolinska Institutet (1)
Language
English (3)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
2011 (3)Undo refine

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