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
Publicado em 2012

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
Publicado em 2014

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
Publicado em 2013

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
Publicado no Nucleic Acids Res (2017)

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
Publicado no Nucleic Acids Res (2015)

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

Por Hartung, Anne-Mette, Swensen, Jeff, Uriz, Inaki E., Lapin, Morten, Kristjansdottir, Karen, Petersen, Ulrika S. S., Bang, Jeanne Mari V., Guerra, Barbara, Andersen, Henriette Skovgaard, Dobrowolski, Steven F., Carey, John C., Yu, Ping, Vaughn, Cecily, Calhoun, Amy, Larsen, Martin R., Dyrskjøt, Lars, Stevenson, David A., Andresen, Brage S.
Publicado no PLoS Genet (2016)