O'Keefe RT - Search Results

1

Disease modeling of core pre-mRNA splicing factor haploinsufficiency.

Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT. Wood KA, et al. Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169. Hum Mol Genet. 2019. PMID: 31304552 Free PMC article.

2

Mutation in the U2 snRNA influences exon interactions of U5 snRNA loop 1 during pre-mRNA splicing.

McGrail JC, Tatum EM, O'Keefe RT. McGrail JC, et al. EMBO J. 2006 Aug 23;25(16):3813-22. doi: 10.1038/sj.emboj.7601258. Epub 2006 Aug 3. EMBO J. 2006. PMID: 16888626 Free PMC article.

3

The U1, U2 and U5 snRNAs crosslink to the 5' exon during yeast pre-mRNA splicing.

McGrail JC, O'Keefe RT. McGrail JC, et al. Nucleic Acids Res. 2008 Feb;36(3):814-25. doi: 10.1093/nar/gkm1098. Epub 2007 Dec 15. Nucleic Acids Res. 2008. PMID: 18084028 Free PMC article.

4

The role of Snu114p during pre-mRNA splicing.

Frazer LN, Nancollis V, O'Keefe RT. Frazer LN, et al. Biochem Soc Trans. 2008 Jun;36(Pt 3):551-3. doi: 10.1042/BST0360551. Biochem Soc Trans. 2008. PMID: 18482006 Review.

5

The RNA binding protein Cwc2 interacts directly with the U6 snRNA to link the nineteen complex to the spliceosome during pre-mRNA splicing.

McGrail JC, Krause A, O'Keefe RT. McGrail JC, et al. Nucleic Acids Res. 2009 Jul;37(13):4205-17. doi: 10.1093/nar/gkp341. Epub 2009 May 12. Nucleic Acids Res. 2009. PMID: 19435883 Free PMC article.

6

Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8.

Kershaw CJ, Barrass JD, Beggs JD, O'Keefe RT. Kershaw CJ, et al. RNA. 2009 Jul;15(7):1292-304. doi: 10.1261/rna.1347409. Epub 2009 May 15. RNA. 2009. PMID: 19447917 Free PMC article.

7

The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing.

Hogg R, McGrail JC, O'Keefe RT. Hogg R, et al. Biochem Soc Trans. 2010 Aug;38(4):1110-5. doi: 10.1042/BST0381110. Biochem Soc Trans. 2010. PMID: 20659013 Free PMC article. Review.

8

Remodeling of U2-U6 snRNA helix I during pre-mRNA splicing by Prp16 and the NineTeen Complex protein Cwc2.

Hogg R, de Almeida RA, Ruckshanthi JP, O'Keefe RT. Hogg R, et al. Nucleic Acids Res. 2014 Jul;42(12):8008-23. doi: 10.1093/nar/gku431. Epub 2014 May 21. Nucleic Acids Res. 2014. PMID: 24848011 Free PMC article.

9

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. Wieczorek D, et al. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434003 Free PMC article.

10

The NineTeen Complex (NTC) and NTC-associated proteins as targets for spliceosomal ATPase action during pre-mRNA splicing.

de Almeida RA, O'Keefe RT. de Almeida RA, et al. RNA Biol. 2015;12(2):109-14. doi: 10.1080/15476286.2015.1008926. RNA Biol. 2015. PMID: 25654271 Free PMC article.

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