Intet foto af Gitte Hoffmann Bruun

Gitte Hoffmann Bruun

20132019
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Publikationer 2013 2019

  • 10 Tidsskriftartikel
  • 1 Ph.d.-afhandling
  • 1 Kommentar/debat
  • 1 Letter
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Tidsskriftartikel
2019
77 Downloads (Pure)

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Grønskov, K., Jespersgaard, C., Bruun, G. H., Harris, P., Brøndum-Nielsen, K., Andresen, B. S. & Rosenberg, T., 24. jan. 2019, I : Scientific Reports. 9, 1, 7 s., 645.

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Haplotypes
Ocular Albinism
Piebaldism
Low Vision
Virulence
27 Downloads (Pure)

Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes

Schaefer, S., Doktor, T. K., Brøner Frederiksen, S., Chea, K., Hlavacova, M., Bruun, G. H., Rabjerg, M., Andresen, B. S., Dominguez, I. & Guerra, B., 2019, I : Scientific Reports. 9, 1, 16 s., 14581.

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Minichromosome Maintenance Proteins
Casein Kinase II
Cell Cycle
Down-Regulation
Catalytic Domain
2018
65 Downloads (Pure)
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Familial Dysautonomia
RNA Splice Sites
Fibroblasts
Mutation
hnRNP A1
2017

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Mosegaard, S., Bruun, G. H., Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J. & Andresen, B. S., 2017, I : Molecular Genetics and Metabolism. 122, 4, s. 182-188

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Acyl Coenzyme A
Riboflavin
Dehydrogenation
Exons
Electron-Transferring Flavoproteins
153 Downloads (Pure)

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

Doktor, T. K., Hua, Y., Andersen, H. S., Brøner, S., Liu, Y. H., Wieckowska, A., Dembic, M., Bruun, G. H., Krainer, A. R. & Andresen, B. S., 2017, I : Nucleic Acids Research. 45, 1, 22 s.

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RNA Sequence Analysis
Introns
Motor Neurons
RNA
HeLa Cells
2016
143 Downloads (Pure)

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

Bruun, G. H., Doktor, T. K., Borch-Jensen, J., Masuda, A., Krainer, A. R., Ohno, K. & Andresen, B. S., 7. jul. 2016, I : BMC Biology. 14, 1, s. 54

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oligonucleotides
Oligonucleotides
exons
binding sites
mutation
Heterogeneous-Nuclear Ribonucleoprotein Group A-B
RNA Splice Sites
Chemical activation
Mutation
Oligonucleotides
2015
327 Downloads (Pure)

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

Palhais, B., Præstegaard, V., Sabaratnam, R., Doktor, T. K., Lutz, S., Burda, P., Suormala, T., Baumgartner, M., Fowler, B., Bruun, G. H., Andersen, H. S., Kozich, V. & Andresen, B. S., 2015, I : Nucleic Acids Research. 43, 9, s. 4627-4639

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2014

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

Olsen, R. K. J., Brøner, S., Sabaratnam, R., Doktor, T. K., Andersen, H. S., Bruun, G. H., Gahrn, B., Stenbroen, V., Olpin, S. E., Dobbie, A., Gregersen, N. & Andresen, B. S., 2014, I : Human Mutation. 35, 1, s. 86-95

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Oxidoreductases
Heterogeneous-Nuclear Ribonucleoprotein Group F-H
Heterogeneous-Nuclear Ribonucleoprotein Group A-B
Nuclear Proteins
Protein Binding
2013
Exons
Fatty Acids
Alleles
Oxidation
Polymorphism