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Gitte Hoffmann Bruun

20132019
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Fingerprint Dive into the research topics where Gitte Hoffmann Bruun is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Exons Chemical Compounds
Heterogeneous-Nuclear Ribonucleoprotein Group A-B Medicine & Life Sciences
RNA Splice Sites Medicine & Life Sciences
Minichromosome Maintenance Proteins Medicine & Life Sciences
Familial Dysautonomia Medicine & Life Sciences
Oligonucleotides Chemical Compounds
RNA Sequence Analysis Medicine & Life Sciences
Introns Medicine & Life Sciences

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Research Output 2013 2019

103 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, In : Scientific Reports. 9, 1, 7 p., 645.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Haplotypes
Ocular Albinism
Piebaldism
Low Vision
Virulence
52 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, In : Scientific Reports. 9, 1, 16 p., 14581.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Minichromosome Maintenance Proteins
Casein Kinase II
Cell Cycle
Down-Regulation
Catalytic Domain
88 Downloads (Pure)
Open Access
File
Familial Dysautonomia
RNA Splice Sites
Fibroblasts
Mutation
hnRNP A1

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, In : Molecular Genetics and Metabolism. 122, 4, p. 182-188

Research output: Contribution to journalJournal articleResearchpeer-review

Acyl Coenzyme A
Riboflavin
Dehydrogenation
Exons
Electron-Transferring Flavoproteins

Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

Heintz, C., Doktor, T. K., Lanjuin, A., Escoubas, C. C., Zhang, Y., Weir, H. J., Dutta, S., Silva-García, C. G., Bruun, G. H., Morantte, I., Hoxhaj, G., Manning, B. D., Andresen, B. S. & Mair, W. B., 2017, In : Nature. 547, 7664, p. 476 1 p.

Research output: Contribution to journalComment/debateResearchpeer-review

corrigendum
mechanistic target of rapamycin complex 1