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Journal Abstract Search
309 related items for PubMed ID: 28460014
1. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Wu X, Wang SH, Sun J, Krainer AR, Hua Y, Prior TW. Hum Mol Genet; 2017 Jul 15; 26(14):2768-2780. PubMed ID: 28460014 [Abstract] [Full Text] [Related]
2. Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. Seo J, Singh NN, Ottesen EW, Sivanesan S, Shishimorova M, Singh RN. PLoS One; 2016 Jul 15; 11(4):e0154390. PubMed ID: 27111068 [Abstract] [Full Text] [Related]
3. Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model. Singh NN, Singh RN. RNA Biol; 2011 Jul 15; 8(4):600-6. PubMed ID: 21654213 [Abstract] [Full Text] [Related]
4. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2. Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Int J Mol Sci; 2022 Jul 27; 23(15):. PubMed ID: 35955418 [Abstract] [Full Text] [Related]
5. hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7. Cho S, Moon H, Loh TJ, Oh HK, Cho S, Choy HE, Song WK, Chun JS, Zheng X, Shen H. Biochim Biophys Acta; 2014 Jul 27; 1839(4):306-15. PubMed ID: 24533984 [Abstract] [Full Text] [Related]
6. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. Yuo CY, Lin HH, Chang YS, Yang WK, Chang JG. Ann Neurol; 2008 Jan 27; 63(1):26-34. PubMed ID: 17924536 [Abstract] [Full Text] [Related]
7. Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes. Singh RN, Singh NN. Adv Neurobiol; 2018 Jan 27; 20():31-61. PubMed ID: 29916015 [Abstract] [Full Text] [Related]
8. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Kashima T, Manley JL. Nat Genet; 2003 Aug 27; 34(4):460-3. PubMed ID: 12833158 [Abstract] [Full Text] [Related]
9. Splicing of the Survival Motor Neuron genes and implications for treatment of SMA. Bebee TW, Gladman JT, Chandler DS. Front Biosci (Landmark Ed); 2010 Jun 01; 15(3):1191-1204. PubMed ID: 20515750 [Abstract] [Full Text] [Related]
10. Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene. Niba ETE, Nishio H, Wijaya YOS, Lai PS, Tozawa T, Chiyonobu T, Yamadera M, Okamoto K, Awano H, Takeshima Y, Saito T, Shinohara M. Brain Dev; 2021 Feb 01; 43(2):294-302. PubMed ID: 33036822 [Abstract] [Full Text] [Related]
15. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Cobb MS, Rose FF, Rindt H, Glascock JJ, Shababi M, Miller MR, Osman EY, Yen PF, Garcia ML, Martin BR, Wetz MJ, Mazzasette C, Feng Z, Ko CP, Lorson CL. Hum Mol Genet; 2013 May 01; 22(9):1843-55. PubMed ID: 23390132 [Abstract] [Full Text] [Related]
16. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Vezain M, Saugier-Veber P, Goina E, Touraine R, Manel V, Toutain A, Fehrenbach S, Frébourg T, Pagani F, Tosi M, Martins A. Hum Mutat; 2010 Jan 01; 31(1):E1110-25. PubMed ID: 19953646 [Abstract] [Full Text] [Related]