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Page 1
PRPF8 defects cause missplicing in myeloid malignancies.
Kurtovic-Kozaric A, Przychodzen B, Singh J, Konarska MM, Clemente MJ, Otrock ZK, Nakashima M, Hsi ED, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Boultwood J, Makishima H, Maciejewski JP, Padgett RA. Kurtovic-Kozaric A, et al. Leukemia. 2015 Jan;29(1):126-36. doi: 10.1038/leu.2014.144. Epub 2014 Apr 30. Leukemia. 2015. PMID: 24781015 Free PMC article.
New connections between splicing and human disease.
Padgett RA. Padgett RA. Trends Genet. 2012 Apr;28(4):147-54. doi: 10.1016/j.tig.2012.01.001. Epub 2012 Mar 5. Trends Genet. 2012. PMID: 22397991 Free PMC article. Review.
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.
Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F, McMahon J, Makishima H, Szpurka H, Jankowska A, Jerez A, Sekeres MA, Saunthararajah Y, Advani AS, Copelan E, Koseki H, Isono K, Padgett RA, Osman S, Koide K, O'Keefe C, Maciejewski JP, Tiu RV. Visconte V, et al. Blood. 2012 Oct 18;120(16):3173-86. doi: 10.1182/blood-2012-05-430876. Epub 2012 Jul 23. Blood. 2012. PMID: 22826563 Free PMC article.
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A. He H, et al. Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587. Science. 2011. PMID: 21474760 Free PMC article.