Výsledky vyhledávání - Andresen, Brage Storstein

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  1. 1
    CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

    CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay Autor Masuda, Akio, Andersen, Henriette Skovgaard, Doktor, Thomas Koed, Okamoto, Takaaki, Ito, Mikako, Andresen, Brage Storstein, Ohno, Kinji

    Vydáno 2012
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  2. 2
    A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

    A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing Autor Searle, Claire, Andresen, Brage Storstein, Wraith, Ed, Higgs, Jamie, Gray, Deborah, Mills, Alison, Allen, K. Elizabeth, Hobson, Emma

    Vydáno 2013
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  3. 3
    Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

    Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2 Autor Doktor, Thomas Koed, Schrøder, Lisbeth Dahl, Andersen, Henriette Skovgaard, Brøner, Sabrina, Kitewska, Anna, Sørensen, Charlotte Brandt, Andresen, Brage Storstein

    Vydáno 2014
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  4. 4
    Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

    Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption Autor Risom, Lotte, Christoffersen, Line, Daugaard-Jensen, Jette, Hove, Hanne Dahlgaard, Andersen, Henriette Skovgaard, Andresen, Brage Storstein, Kreiborg, Sven, Duno, Morten

    Vydáno 2013
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  5. 5
    Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

    Use of Molecular Genetic Analyses in Danish Routine Newborn Screening Autor Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft

    Vydáno 2021
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  6. 6
    VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy

    VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy Autor Alsing, Sidsel, Doktor, Thomas Koed, Askou, Anne Louise, Jensen, Emilie Grarup, Ahmadov, Ulvi, Kristensen, Lasse Sommer, Andresen, Brage Storstein, Aagaard, Lars, Corydon, Thomas J.

    Vydáno 2022
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  7. 7
    Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

    Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Ne... Autor Borch, Luise, Lund, Allan Meldgaard, Wibrand, Flemming, Christensen, Ernst, Søndergaard, Charlotte, Gahrn, Birthe, Hougaard, David Michael, Andresen, Brage Storstein, Gregersen, Niels, Olsen, Rikke Katrine Jentoft

    Vydáno 2011
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  8. 8
    RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

    RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns Autor Doktor, Thomas Koed, Hua, Yimin, Andersen, Henriette Skovgaard, Brøner, Sabrina, Liu, Ying Hsiu, Wieckowska, Anna, Dembic, Maja, Bruun, Gitte Hoffmann, Krainer, Adrian R., Andresen, Brage Storstein

    Vydáno 2017
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  9. 9
    Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

    Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzy... Autor Palhais, Bruno, Præstegaard, Veronica S., Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein

    Vydáno 2015
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  10. 10
    Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

    Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking... Autor Nielsen, Karsten Bork, Sørensen, Suzette, Cartegni, Luca, Corydon, Thomas Juhl, Doktor, Thomas Koed, Schroeder, Lisbeth Dahl, Reinert, Line Sinnathamby, Elpeleg, Orly, Krainer, Adrian R., Gregersen, Niels, Kjems, Jørgen, Andresen, Brage Storstein

    Vydáno 2007
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  11. 11
    DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning

    DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning Autor Grønning, Alexander Gulliver Bjørnholt, Doktor, Thomas Koed, Larsen, Simon Jonas, Petersen, Ulrika Simone Spangsberg, Holm, Lise Lolle, Bruun, Gitte Hoffmann, Hansen, Michael Birkerod, Hartung, Anne-Mette, Baumbach, Jan, Andresen, Brage Storstein

    Vydáno 2020
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  12. 12
    Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

    Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and E... Autor Andresen, Brage Storstein, Christensen, Ernst, Corydon, Thomas J., Bross, Peter, Pilgaard, Bente, Wanders, Ronald J. A., Ruiter, Jos P. N., Simonsen, Henrik, Winter, Vibeke, Knudsen, Inga, Schroeder, Lisbeth Dahl, Gregersen, Niels, Skovby, Flemming

    Vydáno 2000
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  13. 13
    A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)

    A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain... Autor Andresen, Brage Storstein, Bross, Peter, Jensen, Thomas G., Winter, Vibeke, Knudsen, Inga, Kølvraa, Steen, Jensen, Uffe Birk, Bolund, Lars, Duran, Marinus, Kim, Jung-Ja, Curtis, Diana, Divry, Priscille, Vianey-Saban, Christine, Gregersen, Niels

    Vydáno 1993
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  14. 14
    Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

    Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Iden... Autor Andresen, Brage Storstein, Dobrowolski, Steve F., O'Reilly, Linda, Muenzer, Joseph, McCandless, Shawn E., Frazier, Dianne M., Udvari, Szabolcs, Bross, Peter, Knudsen, Inga, Banas, Rick, Chace, Donald H., Engel, Paul, Naylor, Edwin W., Gregersen, Niels

    Vydáno 2001
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  15. 15
    Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene

    Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene Autor Andresen, Brage Storstein, Jensen, Thomas G., Bross, Peter, Knudsen, Inga, Winter, Vibeke, Kølvraa, Steen, Bolund, Lars, Ding, Jia-Huan, Chen, Yuan-Tsong, Van Hove, Johan L. K., Curtis, Diana, Yokota, Ichiro, Tanaka, Kay, Kim, Jung-Ja Park, Gregersen, Niels

    Vydáno 1994
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  16. 16
    Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation

    Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation Autor Keller, Josephine Geertsen, Hymøller, Kirstine Mejlstrup, Thorsager, Maria Eriksen, Hansen, Noriko Y, Erlandsen, Jens Uldum, Tesauro, Cinzia, Simonsen, Anne Katrine W, Andersen, Anne Bech, Vandsø Petersen, Kamilla, Holm, Lise Lolle, Stougaard, Magnus, Andresen, Brage Storstein, Kristensen, Peter, Frøhlich, Rikke, Knudsen, Birgitta R

    Vydáno 2022
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