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Gitte Hoffmann Bruun

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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.

  • 5 Similar Profiles
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
Ocular Albinism
Low Vision
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
Minichromosome Maintenance Proteins
Casein Kinase II
Cell Cycle
Catalytic Domain
88 Downloads (Pure)
Open Access
Familial Dysautonomia
RNA Splice Sites
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
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

mechanistic target of rapamycin complex 1