Photo of Maja Dembic

Maja Dembic

  • Campusvej 55

    5230 Odense M

    Denmark

20042019
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Fingerprint Dive into the research topics where Maja Dembic is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Cystatin B Medicine & Life Sciences
RNA Sequence Analysis Medicine & Life Sciences
Mutation Medicine & Life Sciences
RNA Splice Sites Medicine & Life Sciences
Heterogeneous-Nuclear Ribonucleoprotein Group A-B Medicine & Life Sciences
Canavan Disease Medicine & Life Sciences
Phenylalanine Hydroxylase Medicine & Life Sciences
Introns Medicine & Life Sciences

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Research Output 2004 2019

  • 12 Journal article
16 Downloads (Pure)

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease

Dembic, M., Andersen, H. S., Bastin, J., Doktor, T. K., Corydon, T. J., Sass, J. O., Costa, A. L., Djouadi, F. & Andresen, B. S., Jan 2019, In : Molecular Genetics and Metabolism. 126, 1, p. 64-76

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Canavan Disease
RNA Sequence Analysis
RNA
Sirtuin 1
Fibroblasts
105 Downloads (Pure)

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site

Martínez-Pizarro, A., Dembic, M., Pérez, B., Andresen, B. S. & Desviat, L. R., 2018, In : PLOS Genetics. 14, 4, 17 p., e1007360.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
phenylalanine 4-monooxygenase
Phenylalanine Hydroxylase
RNA Splice Sites
exons
defect

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

Pregnancy-associated plasma protein-A (PAPP-A) and the proform of the eosinophil major basic protein (ProMBP) are associated with increased risk of death in heart failure patients

Dembic, M., Hedley, P. L., Torp-Pedersen, C., Køber, L. & Christiansen, M., 2017, In : Scandinavian Journal of Clinical & Laboratory Investigation. 77, 5

Research output: Contribution to journalJournal articleResearchpeer-review

145 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, In : Nucleic Acids Research. 45, 1, 22 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
RNA Sequence Analysis
Introns
Motor Neurons
RNA
HeLa Cells