Publications by authors named "Gitte Bruun"

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Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.
Alexander Varzari, Igor V Deyneko, Gitte Hoffmann Bruun, Maja Dembic, Winfried Hofmann

Front Genet· October 2022

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DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning.
Alexander Gulliver Bjørnholt Grønning, Thomas Koed Doktor, Simon Jonas Larsen, Ulrika Simone Spangsberg Petersen, Lise Lolle Holm, Gitte Hoffmann Bruun

Nucleic Acids Res· July 2020

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Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes.
Susanne Schaefer, Thomas K Doktor, Sabrina B Frederiksen, Kathleen Chea, Mirka Hlavacova, Gitte H Bruun

Sci Rep· October 2019

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A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.
Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum-Nielsen

Sci Rep· January 2019

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Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Gitte H Bruun, Jeanne M V Bang, Lise L Christensen, Sabrina Brøner, Ulrika S S Petersen

Nucleic Acids Res· September 2018

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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, Yngve Thomas Bliksrud, Niels Gregersen

Mol Genet Metab· December 2017

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Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.
Caroline Heintz, Thomas K Doktor, Anne Lanjuin, Caroline C Escoubas, Yue Zhang, Gitte H Bruun

Nature· July 2017

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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
Thomas Koed Doktor, Yimin Hua, Henriette Skovgaard Andersen, Sabrina Brøner, Ying Hsiu Liu, Gitte Hoffmann Bruun

Nucleic Acids Res· January 2017

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Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans.
Caroline Heintz, Thomas Koed Doktor, Anne Lanjuin, Caroline Escoubas, Yue Zhang, Gitte Hoffmann Bruun

Nature· January 2017

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The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Bruno Palhais, Maja Dembic, Rugivan Sabaratnam, Kira S Nielsen, Thomas Koed Doktor, Gitte Hoffmann Bruun

Mol Genet Metab· November 2016

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Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.
Gitte H Bruun, Thomas K Doktor, Jonas Borch-Jensen, Akio Masuda, Adrian R Krainer

BMC Biol· July 2016

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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 enzyme activity in patient cells.
Bruno Palhais, Veronica S Præstegaard, Rugivan Sabaratnam, Thomas Koed Doktor, Seraina Lutz, Gitte Hoffmann Bruun

Nucleic Acids Res· May 2015

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A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.
Gitte Hoffmann Bruun, Thomas Koed Doktor, Brage Storstein Andresen

Mol Genet Metab· March 2014

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The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Rikke K J Olsen, Sabrina Brøner, Rugivan Sabaratnam, Thomas K Doktor, Henriette S Andersen, Gitte H Bruun

Hum Mutat· January 2014

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Influence of polymorphic OATP1B-type carriers on the disposition of docetaxel.
Anne-Joy M de Graan, Cynthia S Lancaster, Amanda Obaidat, Bruno Hagenbuch, Laure Elens, Gitte H Bruun

Clin Cancer Res· August 2012

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Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo.
Maria Pihlmann, Anne Louise Askou, Lars Aagaard, Gitte Hoffmann Bruun, Jesper Dyrendom Svalgaard

J Gene Med· May 2012

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Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition.
Laura B Ramsey, Gitte H Bruun, Wenjian Yang, Lisa R Treviño, Selina Vattathil

Genome Res· January 2012

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Treatment of deep caries lesions in adults: randomized clinical trials comparing stepwise vs. direct complete excavation, and direct pulp capping vs. partial pulpotomy.
Lars Bjørndal, Claes Reit, Gitte Bruun, Merete Markvart, Marianne Kjaeldgaard

Eur J Oral Sci· June 2010

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