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The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS. Olsen RK, et al. Among authors: andersen hs. Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28. Hum Mutat. 2014. PMID: 24123825
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: andersen hs. 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.
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS. Palhais B, et al. Among authors: andersen hs. Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275. Epub 2015 Apr 15. Nucleic Acids Res. 2015. PMID: 25878036 Free PMC article.
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
Hartung AM, Swensen J, Uriz IE, Lapin M, Kristjansdottir K, Petersen US, Bang JM, Guerra B, Andersen HS, Dobrowolski SF, Carey JC, Yu P, Vaughn C, Calhoun A, Larsen MR, Dyrskjøt L, Stevenson DA, Andresen BS. Hartung AM, et al. Among authors: andersen hs. PLoS Genet. 2016 May 19;12(5):e1006039. doi: 10.1371/journal.pgen.1006039. eCollection 2016 May. PLoS Genet. 2016. PMID: 27195699 Free PMC article.
111 results