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RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.
Benitez-Guijarro M, Lopez-Ruiz C, Tarnauskaitė Ž, Murina O, Mian Mohammad M, Williams TC, Fluteau A, Sanchez L, Vilar-Astasio R, Garcia-Canadas M, Cano D, Kempen MH, Sanchez-Pozo A, Heras SR, Jackson AP, Reijns MA, Garcia-Perez JL. Benitez-Guijarro M, et al. Among authors: reijns ma. EMBO J. 2018 Aug 1;37(15):e98506. doi: 10.15252/embj.201798506. Epub 2018 Jun 29. EMBO J. 2018. PMID: 29959219 Free PMC article.
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ. Rice GI, et al. Among authors: reijns ma. Hum Mutat. 2013 Aug;34(8):1066-70. doi: 10.1002/humu.22336. Epub 2013 May 13. Hum Mutat. 2013. PMID: 23592335 Free PMC article.
RNA:DNA hybrids are a novel molecular pattern sensed by TLR9.
Rigby RE, Webb LM, Mackenzie KJ, Li Y, Leitch A, Reijns MA, Lundie RJ, Revuelta A, Davidson DJ, Diebold S, Modis Y, MacDonald AS, Jackson AP. Rigby RE, et al. Among authors: reijns ma. EMBO J. 2014 Mar 18;33(6):542-58. doi: 10.1002/embj.201386117. Epub 2014 Feb 10. EMBO J. 2014. PMID: 24514026 Free PMC article.
Ribonuclease H2 in health and disease.
Reijns MA, Jackson AP. Reijns MA, et al. Biochem Soc Trans. 2014 Aug;42(4):717-25. doi: 10.1042/BST20140079. Biochem Soc Trans. 2014. PMID: 25109948
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. Harley ME, et al. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23. Nat Genet. 2016. PMID: 26595769 Free PMC article.
38 results