Andresen BS - Search Results

1

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics.

Roca X, Olson AJ, Rao AR, Enerly E, Kristensen VN, Børresen-Dale AL, Andresen BS, Krainer AR, Sachidanandam R. Roca X, et al. Among authors: andresen bs. Genome Res. 2008 Jan;18(1):77-87. doi: 10.1101/gr.6859308. Epub 2007 Nov 21. Genome Res. 2008. PMID: 18032726 Free PMC article.

2

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

Bruun GH, Doktor TK, Borch-Jensen J, Masuda A, Krainer AR, Ohno K, Andresen BS. Bruun GH, et al. Among authors: andresen bs. BMC Biol. 2016 Jul 5;14:54. doi: 10.1186/s12915-016-0279-9. BMC Biol. 2016. PMID: 27380775 Free PMC article.

3

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.

Doktor TK, Hua Y, Andersen HS, Brøner S, Liu YH, Wieckowska A, Dembic M, Bruun GH, Krainer AR, Andresen BS. Doktor TK, et al. Among authors: andresen bs. Nucleic Acids Res. 2017 Jan 9;45(1):395-416. doi: 10.1093/nar/gkw731. Epub 2016 Aug 23. Nucleic Acids Res. 2017. PMID: 27557711 Free PMC article.

4

Identification of SRSF10 as a regulator of SMN2 ISS-N1.

Frederiksen SB, Holm LL, Larsen MR, Doktor TK, Andersen HS, Hastings ML, Hua Y, Krainer AR, Andresen BS. Frederiksen SB, et al. Among authors: andresen bs. Hum Mutat. 2021 Mar;42(3):246-260. doi: 10.1002/humu.24149. Epub 2020 Dec 16. Hum Mutat. 2021. PMID: 33300159 Free PMC article.

5

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS. Madsen PP, et al. Among authors: andresen bs. Hum Genet. 2006 Feb;118(6):680-90. doi: 10.1007/s00439-005-0070-4. Epub 2005 Nov 30. Hum Genet. 2006. PMID: 16317551

6

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Among authors: andresen bs. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.

7

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 BS, Desviat LR. Martínez-Pizarro A, et al. Among authors: andresen bs. PLoS Genet. 2018 Apr 23;14(4):e1007360. doi: 10.1371/journal.pgen.1007360. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29684050 Free PMC article.

8

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

Petersen USS, Doktor TK, Andresen BS. Petersen USS, et al. Among authors: andresen bs. Hum Mutat. 2022 Feb;43(2):103-127. doi: 10.1002/humu.24306. Epub 2021 Dec 5. Hum Mutat. 2022. PMID: 34837434 Review.

9

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: andresen bs. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805

10

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Olsen RK, et al. Among authors: andresen bs. Hum Mutat. 2003 Jul;22(1):12-23. doi: 10.1002/humu.10226. Hum Mutat. 2003. PMID: 12815589

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