Resultados da pesquisa - Andresen, Brage Storstein

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

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

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

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

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

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

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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... Por 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

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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns Por 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

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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... Por 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

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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... Por 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

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DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning Por 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

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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... Por 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

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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... Por 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

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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... Por 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

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Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene Por 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

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Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation Por 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

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