PubMed (cited) for id: 601627

Year	Number of Results
1995	1
1996	3
1997	2
1998	1
1999	1
2001	4
2002	6
2003	4
2004	2
2005	4
2006	3
2007	4
2008	2
2009	4
2010	2
2014	1
2024	0

1

Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.

Naryshkin NA, Weetall M, Dakka A, Narasimhan J, Zhao X, Feng Z, Ling KK, Karp GM, Qi H, Woll MG, Chen G, Zhang N, Gabbeta V, Vazirani P, Bhattacharyya A, Furia B, Risher N, Sheedy J, Kong R, Ma J, Turpoff A, Lee CS, Zhang X, Moon YC, Trifillis P, Welch EM, Colacino JM, Babiak J, Almstead NG, Peltz SW, Eng LA, Chen KS, Mull JL, Lynes MS, Rubin LL, Fontoura P, Santarelli L, Haehnke D, McCarthy KD, Schmucki R, Ebeling M, Sivaramakrishnan M, Ko CP, Paushkin SV, Ratni H, Gerlach I, Ghosh A, Metzger F. Naryshkin NA, et al. Science. 2014 Aug 8;345(6197):688-93. doi: 10.1126/science.1250127. Science. 2014. PMID: 25104390

2

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

Jodelka FM, Ebert AD, Duelli DM, Hastings ML. Jodelka FM, et al. Hum Mol Genet. 2010 Dec 15;19(24):4906-17. doi: 10.1093/hmg/ddq425. Epub 2010 Sep 30. Hum Mol Genet. 2010. PMID: 20884664 Free PMC article.

3

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Gladman JT, Bebee TW, Edwards C, Wang X, Sahenk Z, Rich MM, Chandler DS. Gladman JT, et al. Hum Mol Genet. 2010 Nov 1;19(21):4239-52. doi: 10.1093/hmg/ddq343. Epub 2010 Aug 12. Hum Mol Genet. 2010. PMID: 20705738 Free PMC article.

4

A positive modifier of spinal muscular atrophy in the SMN2 gene.

Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT. Prior TW, et al. Am J Hum Genet. 2009 Sep;85(3):408-13. doi: 10.1016/j.ajhg.2009.08.002. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716110 Free PMC article.

5

Intron 7 conserved sequence elements regulate the splicing of the SMN genes.

Gladman JT, Chandler DS. Gladman JT, et al. Hum Genet. 2009 Dec;126(6):833-41. doi: 10.1007/s00439-009-0733-7. Hum Genet. 2009. PMID: 19701774 Free PMC article.

6

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.

Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH. Workman E, et al. Hum Mol Genet. 2009 Jun 15;18(12):2215-29. doi: 10.1093/hmg/ddp157. Epub 2009 Mar 27. Hum Mol Genet. 2009. PMID: 19329542 Free PMC article.

7

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.

Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E. Hauke J, et al. Hum Mol Genet. 2009 Jan 15;18(2):304-17. doi: 10.1093/hmg/ddn357. Epub 2008 Oct 29. Hum Mol Genet. 2009. PMID: 18971205 Free PMC article.

8

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells.

Angelozzi C, Borgo F, Tiziano FD, Martella A, Neri G, Brahe C. Angelozzi C, et al. J Med Genet. 2008 Jan;45(1):29-31. doi: 10.1136/jmg.2007.051177. Epub 2007 Oct 11. J Med Genet. 2008. PMID: 17932121

9

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.

Kashima T, Rao N, David CJ, Manley JL. Kashima T, et al. Hum Mol Genet. 2007 Dec 15;16(24):3149-59. doi: 10.1093/hmg/ddm276. Epub 2007 Sep 19. Hum Mol Genet. 2007. PMID: 17884807

10

An intronic element contributes to splicing repression in spinal muscular atrophy.

Kashima T, Rao N, Manley JL. Kashima T, et al. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3426-31. doi: 10.1073/pnas.0700343104. Epub 2007 Feb 16. Proc Natl Acad Sci U S A. 2007. PMID: 17307868 Free PMC article.

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