Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Brage Storstein, Andresen"'
Autor:
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102101- (2024)
Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with normal gene expression. The PCCA c.1285-1416A>G variation activates a ps
Externí odkaz:
https://doaj.org/article/ff8b723093454117929845437197aef9
Autor:
Sidsel Alsing, Thomas Koed Doktor, Anne Louise Askou, Emilie Grarup Jensen, Ulvi Ahmadov, Lasse Sommer Kristensen, Brage Storstein Andresen, Lars Aagaard, Thomas J. Corydon
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 58-76 (2022)
Retinal gene therapy using RNA interference (RNAi) to silence targeted genes requires both efficacy and safety. Short hairpin RNAs (shRNAs) are useful for RNAi, but high expression levels and activity from the co-delivered passenger strand may cause
Externí odkaz:
https://doaj.org/article/6de388c12e504aaf91ee9aa13a988490
Autor:
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 50 (2021)
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and
Externí odkaz:
https://doaj.org/article/e2d3d02166b1482183928729f9ccf7df
Autor:
Josephine Geertsen Keller, Kirstine Mejlstrup Hymøller, Maria Eriksen Thorsager, Noriko Y Hansen, Jens Uldum Erlandsen, Cinzia Tesauro, Anne Katrine W Simonsen, Anne Bech Andersen, Kamilla Vandsø Petersen, Lise Lolle Holm, Magnus Stougaard, Brage Storstein Andresen, Peter Kristensen, Rikke Frøhlich, Birgitta R Knudsen
Publikováno v:
Keller, J G, Hymøller, K M, Thorsager, M E, Hansen, N Y, Erlandsen, J U, Tesauro, C, Simonsen, A K W, Andersen, A B, VandsøPetersen, K, Holm, L L, Stougaard, M, Andresen, B S, Kristensen, P, Frøhlich, R & Knudsen, B R 2022, ' Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation ', Nucleic Acids Research, vol. 50, no. 11, pp. 6332-6342 . https://doi.org/10.1093/nar/gkac482
Keller, J G, Hymøller, K M, Thorsager, M E, Hansen, N Y, Erlandsen, J U, Tesauro, C, Simonsen, A K W, Andersen, A B, Vandsø Petersen, K, Holm, L L, Stougaard, M, Andresen, B S, Kristensen, P, Frøhlich, R & Knudsen, B R 2022, ' Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation ', Nucleic Acids Research, vol. 50, no. 11, pp. 6332-6342 . https://doi.org/10.1093/nar/gkac482
Keller, J G, Hymøller, K M, Thorsager, M E, Hansen, N Y, Erlandsen, J U, Tesauro, C, Simonsen, A K W, Andersen, A B, Vandsø Petersen, K, Holm, L L, Stougaard, M, Andresen, B S, Kristensen, P, Frøhlich, R & Knudsen, B R 2022, ' Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation ', Nucleic Acids Research, vol. 50, no. 11, pp. 6332-6342 . https://doi.org/10.1093/nar/gkac482
We have investigated the function of human topoisomerase 1 (TOP1) in regulation of G-quadruplex (G4) formation in the Pu27 region of the MYC P1 promoter. Pu27 is among the best characterized G4 forming sequences in the human genome and it is well kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606b4feca49e6ce6db36ead898879b1b
https://vbn.aau.dk/da/publications/547d3b84-5a5b-4882-947d-67ad863246d1
https://vbn.aau.dk/da/publications/547d3b84-5a5b-4882-947d-67ad863246d1
Autor:
Thomas Koed Doktor, Lisbeth Dahl Schrøder, Henriette Skovgaard Andersen, Sabrina Brøner, Anna Kitewska, Charlotte Brandt Sørensen, Brage Storstein Andresen
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e98841 (2014)
Spinal Muscular Atrophy is caused by homozygous loss of SMN1. All patients retain at least one copy of SMN2 which produces an identical protein but at lower levels due to a silent mutation in exon 7 which results in predominant exclusion of the exon.
Externí odkaz:
https://doaj.org/article/c49b99396dc74de591f148dc0842cbe3
Autor:
Lotte Risom, Line Christoffersen, Jette Daugaard-Jensen, Hanne Dahlgaard Hove, Henriette Skovgaard Andersen, Brage Storstein Andresen, Sven Kreiborg, Morten Duno
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74601 (2013)
Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of erup
Externí odkaz:
https://doaj.org/article/fa70b87142a74f8d85cb851ff91892b2
Autor:
Allan, Lund, Flemming, Wibrand, Kristin, Skogstrand, Arieh, Cohen, Mette, Christensen, Rie Bak, Jäpelt, Morten, Dunø, Flemming, Skovby, Bent, Nørgaard-Pedersen, Niels, Gregersen, Brage Storstein, Andresen, Rikke Katrine Jentoft, Olsen, David, Hougaard
Publikováno v:
Danish medical journal. 67(1)
Newborn screening is a public health programme for early diagnosis of treatable diseases.The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot project from 2002 to 2009,
Autor:
Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Brage Storstein Andresen, Olsen, R. K. J., Hougaard, D.
Publikováno v:
Lund, A, Wibrand, F, Skogstrand, K, Cohen, A S, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D M 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/files/scientific_article_files/2019-12/a06190341_0.pdf >
Lund, A, Wibrand, F, Skogstrand, K, Cohen, A, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/dmj/danish-expanded-newborn-screening-successful-preventive-public-health-programme >
Scopus-Elsevier
Lund, A, Wibrand, F, Skogstrand, K, Cohen, A, Christensen, M, Jäpelt, R B, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, B S, Olsen, R K J & Hougaard, D 2020, ' Danish expanded newborn screening is a successful preventive public health programme ', Danish Medical Journal, vol. 67, no. 1, A06190341 . < https://ugeskriftet.dk/dmj/danish-expanded-newborn-screening-successful-preventive-public-health-programme >
Scopus-Elsevier
INTRODUCTION: Newborn screening is a public health programme for early diagnosis of treatable diseases.METHODS: The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::276ea02bedf211d799c62200ef9a69e9
https://findresearcher.sdu.dk:8443/ws/files/159962736/a06190341_0.pdf
https://findresearcher.sdu.dk:8443/ws/files/159962736/a06190341_0.pdf
Autor:
Brage Storstein Andresen
Publikováno v:
Journal of Clinical Endocrinology & Metabolism. 84:2933-2941
Autor:
Wendy Balemans, Wim Van Hul, Marian Valko, Jan Moncol, Lee A. Denson, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Alexander K. C. Leung, Reginald S. Sauve, William Lane M. Robson, Stefan R. Bornstein, Marina Aunapuu, Andres Arend, Mike Recher, Karl S. Lang, Arthur Melms, Cord Sunderkötter, Anca Sindrilaru, Maria Teresa Divizia, Margherita Lerone, Roberto Ravazzolo, Vimla S. Aggarwal, Jelena S. Arnold, Anna Blonska, Bernice E. Morrow, Ralf Kubitz, Takashi Yamaki, Kim A. Connelly, Richard E. Gilbert, Lucia K. Ma, Patrick T. S. Ma, Narain Moorjani, Peter H. Sugden, Christophe Depre, Joseph B. Selvanayagam, Annika Burow, Etienne Delacrétaz, Zhuang Chen, Weinian Shou, Eggert Stockfleth, Ingo Nindl, Thomas Brandt, Michael Strupp, Diethilde Theil, Brage Storstein Andresen, Amei Ludwig, Hartmut Hengel, Johannes G. Bode, Andreas Erhardt, Guido Oppido, Carlo Pace Napoleone, Gaetano Gargiulo, Hans K. Biesalski, Hans-Jürgen Gdynia, Albert C. Ludolph, Roland Bitsch, Naidu K. Akhilender, Armin Zittermann, Angelo Azzi, Yesim Negis, Arie Markel, Nir Kfir, Johannes Bayer, Stefan Beissert, Janice Y. Chou, Brian C. Mansfield, Arndt Hartmann, Wolfgang Dietmaier, Hugo Ten Cate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::784b497fdea1bf1771d82d835c0a958d
https://doi.org/10.1007/978-3-540-29676-8_1818
https://doi.org/10.1007/978-3-540-29676-8_1818