Ulrika Petersen

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4 Tidsskriftartikel

Pseudoexon activation in disease by non-splice site deep intronic sequence variation — wild type pseudoexons constitute high-risk sites in the human genome
Petersen, U. S. S., Doktor, T. K. & Andresen, B. S., feb. 2022, I: Human Mutation. 43, 2, s. 103-127
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers
Holm, L. L., Doktor, T. K., Hansen, M. B., Petersen, U. S. S. & Andresen, B. S., feb. 2022, I: Human Mutation. 43, 2, s. 253-265
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning
Grønning, A. G. B., Doktor, T. K., Larsen, S. J., Petersen, U. S. S., Holm, L. L., Bruun, G. H., Hansen, M. B., Hartung, A-M., Baumbach, J. & Andresen, B. S., 27. jul. 2020, I: Nucleic acids research. 48, 13, s. 7099-7118
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells
Bruun, G. H., Bang, J. M., Christensen, L. L., Brøner, S., Petersen, U. S., Guerra, B., Grønning, A. G., Doktor, T. K. & Andresen, B. S., 6. sep. 2018, I: Nucleic Acids Research. 46, 15, s. 7938-7952
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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1 Igangværende

EU - Horizon 2020 - CRISPR genome editing for generation of a cellular model to investigate ASOmediated blocking of pseudoexons)
Petersen, U.
10/12/2019 → 20/12/2022
Projekter: Projekt › EU

Ulrika Petersen

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Pseudoexon activation in disease by non-splice site deep intronic sequence variation — wild type pseudoexons constitute high-risk sites in the human genome

Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

EU - Horizon 2020 - CRISPR genome editing for generation of a cellular model to investigate ASOmediated blocking of pseudoexons)

Ulrika Petersen

Fingeraftryk

Netværk

Publikationer

Pseudoexon activation in disease by non-splice site deep intronic sequence variation — wild type pseudoexons constitute high-risk sites in the human genome

Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

Projekter

EU - Horizon 2020 - CRISPR genome editing for generation of a cellular model to investigate ASOmediated blocking of pseudoexons)