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Page 1
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US, Dembic M, Martínez-Pizarro A, Richard E, Holm LL, Havelund JF, Doktor TK, Larsen MR, Færgeman NJ, Desviat LR, Andresen BS. Spangsberg Petersen US, et al. Among authors: andresen bs. Mol Ther Nucleic Acids. 2023 Dec 13;35(1):102101. doi: 10.1016/j.omtn.2023.102101. eCollection 2024 Mar 12. Mol Ther Nucleic Acids. 2023. PMID: 38204914 Free PMC article.
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Terkelsen T, Mikkelsen NS, Bak EN, Vad-Nielsen J, Blechingberg J, Weiss S, Drue SO, Andersen H, Andresen BS, Bak RO, Jensen UB. Terkelsen T, et al. Among authors: andresen bs. Am J Hum Genet. 2024 Feb 1;111(2):309-322. doi: 10.1016/j.ajhg.2023.12.024. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272032 Free PMC article.
Protein kinase CK2 sustains de novo fatty acid synthesis by regulating the expression of SCD-1 in human renal cancer cells.
Guerra B, Jurcic K, van der Poel R, Cousineau SL, Doktor TK, Buchwald LM, Roffey SE, Lindegaard CA, Ferrer AZ, Siddiqui MA, Gyenis L, Andresen BS, Litchfield DW. Guerra B, et al. Among authors: andresen bs. Cancer Cell Int. 2024 Dec 26;24(1):432. doi: 10.1186/s12935-024-03611-y. Cancer Cell Int. 2024. PMID: 39726006 Free PMC article.
Study protocol for RUFUS-A randomized mixed methods pilot clinical trial investigating the relevance and feasibility of rumination-focused cognitive behavioral therapy in the treatment of patients with emergent psychosis spectrum disorders.
Clemmensen L, Lund CN, Andresen BS, Midtgaard J, Glenthøj LB. Clemmensen L, et al. Among authors: andresen bs. PLoS One. 2024 Jan 25;19(1):e0297118. doi: 10.1371/journal.pone.0297118. eCollection 2024. PLoS One. 2024. PMID: 38271383 Free PMC article.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Macháčková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A; ENIGMA Consortium; Vreeswijk MPG, de la Hoya M, Spurdle AB. Thomassen M, et al. Among authors: andresen bs. Hum Mutat. 2022 Dec;43(12):1921-1944. doi: 10.1002/humu.24449. Epub 2022 Oct 23. Hum Mutat. 2022. PMID: 35979650 Free PMC article.
154 results