| 1 | SMN1, SMN2, SNRNPM, U2AF2
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| hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7.
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| Cho S, Moon H, Loh TJ, Oh HK, Cho S, Choy HE, Song WK, Chun JS, Zheng X, Shen H.
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| Biochim Biophys Acta 1839(4):306-15. doi: 10.1016/j.bbagrm.2014.02.006. Epub 2014 Feb 15.
2014
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| 2 | NAIP, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
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| Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
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| Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M.
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| Eur J Paediatr Neurol 16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6.
2012
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| 3 | HNRNPA1, SMN2
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| SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.
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| Doktor TK, Schroeder LD, Vested A, Palmfeldt J, Andersen HS, Gregersen N, Andresen BS.
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| Hum Mutat 32(2):220-30. doi: 10.1002/humu.21419. Epub 2011 Jan 25.
2011
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| 4 | SMN1, SMN2, TIA1
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| Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model.
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| Singh NN, Singh RN.
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| RNA Biol 8(4). [Epub ahead of print]
2011
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| 5 | HDAC2, HDAC6, SMN2
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| Differential regulation of the SMN2 gene by individual HDAC proteins.
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| Evans MC, Cherry JJ, Androphy EJ.
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| Biochem Biophys Res Commun 414(1):25-30. Epub 2011 Sep 6.
2011
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| 6 | DDX20, GEMIN2, GEMIN6, GEMIN7, SMN1, SMN2
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| SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules.
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| Todd AG, Shaw DJ, Morse R, Stebbings H, Young PJ.
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| Biochem Biophys Res Commun 394(1):211-6. Epub 2010 Feb 25. 2010
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| 7 | SMN2
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| A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity.
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| Cho S, Dreyfuss G.
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| Genes Dev. 24(5):438-42. 2010
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| 8 | KHDRBS1, SMN2
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| The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.
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| Pedrotti S, Bielli P, Paronetto MP, Ciccosanti F, Fimia GM, Stamm S, Manley JL, Sette C.
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| EMBO J 29(7):1235-47. Epub 2010 Feb 25. 2010
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| 9 | SMA, SMN2
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| Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.
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| Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E.
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| Hum Mol Genet 18(2):304-17. Epub 2008 Oct 29.
2009
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| 10 | SMN1, SMN2
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| Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
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| Burghes AH, Beattie CE.
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| Nat Rev Neurosci. 10(8):597-609. 2009
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| 11 | SMA, SMN2
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| A positive modifier of spinal muscular atrophy in the SMN2 gene.
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| Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT.
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| Am J Hum Genet 85(3):408-13. Epub 2009 Aug 27.
2009
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| 12 | NAIP, SMN2
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| Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
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| Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera-Pruszczyk A, Sielska D, Jurek M, Hausmanowa-Petrusewicz I.
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| Acta Biochim Pol 56(1):103-8. Epub 2009 Mar 14.
2009
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| 13 | SMA, SMN1, SMN2
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| Unaffected patients with a homozygous absence of the SMN1 gene.
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| Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.
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| Eur J Hum Genet 16(8):930-4. Epub 2008 Mar 12.
2008
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| 14 | SMN2, TARDBP
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| TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing.
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| Bose JK, Wang IF, Hung L, Tarn WY, Shen CK.
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| J Biol Chem 283(43):28852-9. Epub 2008 Aug 14.
2008
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| 15 | SMA, SMN1, SMN2
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| Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
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| Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K.
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| J Med Genet 45(10):635-8. Epub 2008 Jul 28.
2008
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| 16 | SMN2, SYNCRIP
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| The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene.
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| Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY.
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| Mol Cell Biol 28(22):6929-38. Epub 2008 Sep 15.
2008
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| 17 | NAIP, SMN2
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| SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
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| Tran VK, Sasongko TH, Hong DD, Hoan NT, Dung VC, Lee MJ, Gunadi, Takeshima Y, Matsuo M, Nishio H.
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| Pediatr Int 50(3):346-51.PMID: 18533950 2008
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| 18 | SMN1, SMN2
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| Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
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| DiMatteo D, Callahan S, Kmiec EB.
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| Exp Cell Res 314(4):878-86. Epub 2007 Oct 24.PMID: 18078930 2008
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| 19 | ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
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| Spinal muscular atrophy diagnostics.
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| Prior TW.
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| J Child Neurol 22(8):952-6. Review. 2007
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| 20 | ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
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| Spinal muscular atrophy: clinical classification and disease heterogeneity.
|
| Russman BS.
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| J Child Neurol 22(8):946-51. Review. 2007
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| 21 | SMN1, SMN2, SMA
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| Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2.
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| Cartegni L, Hastings ML, Calarco JA, Stanchina E, Krainer AR.
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| Am J Hum Genet 78(1):63-77. Epub 2005 Nov 16. 2006
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| 22 | SMA3, SMA4, SMN1, SMN2
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| Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.
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| Wirth B, Brichta L, Schrank B, Lochmller H, Blick S, Baasner A, Heller R.
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| Hum Genet 119(4):422-8. Epub 2006 Mar 1. 2006
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| 23 | SMN1, SMN2
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| SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
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| Le TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH.
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| Hum Mol Genet 14(6):845-57. Epub 2005 Feb 9. 2005
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| 24 | SMN2, HDAC1, HDAC2
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| The role of histone acetylation in SMN gene expression.
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| Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ.
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| Hum Mol Genet 14(9):1171-82. Epub 2005 Mar 16. 2005
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| 25 | SMN1,SMN2
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| SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
|
| Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH.
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| Neurology 65(6):820-5. Epub 2005 Aug 10. 2005
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| 26 | SMN1, SMN2
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| Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
|
| Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M.
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| Eur J Hum Genet 12(9):729-37. 2004
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| 27 | ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
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| Complex genetics of amyotrophic lateral sclerosis.
|
| Kunst CB.
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| Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
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| 28 | SMN2
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| Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
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| Cartegni L, Krainer AR.
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| Nat Genet 30(4):377-84. 2002
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| 29 | SMN2
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| Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.
|
| Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H.
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| J Neurol 249(9):1211-9. 2002
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| 30 | GAR1, SMN1, SMN2
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| Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1.
|
| Whitehead SE, Jones KW, Zhang X, Cheng X, Terns RM, Terns MP.
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| J Biol Chem 277(50):48087-93. Epub 2002 Sep 19. 2002
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| 31 | SMA, SMN2
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| SMN2-deletion in childhood-onset spinal muscular atrophy.
|
| Srivastava S, Mukherjee M, Panigrahi I, Shanker Pandey G, Pradhan S, Mittal B.
|
| Am J Med Genet 101(3):198-202. 2001
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| 32 | SMN2
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| Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS.
|
| Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H.
|
| Neurology 56(6):749-52. 2001
|
| 33 | SMN1, SMN2
|
| The SMN genes are subject to transcriptional regulation during cellular differentiation.
|
| Germain-Desprez D, Brun T, Rochette C, Semionov A, Rouget R, Simard LR.
|
| Gene 279(2):109-17. 2001
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| 34 | GAR1, SMN1, SMN2
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| The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1.
|
| Pellizzoni L, Baccon J, Charroux B, Dreyfuss G.
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| Curr Biol 11(14):1079-88.
2001
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| 35 | SMN1, SMN2
|
| The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
|
| Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossol W, Prior TW, Morris GE, Burghes AH.
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| Hum Mol Genet 9(3):333-9 2000
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| 36 | SMN1, SMN2
|
| Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III.
|
| Jablonka S, Schrank B, Kralewski M, Rossoll W, Sendtner M.
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| Hum Mol Genet 9(3):341-6 2000
|
| 37 | BDP1, NAIP, CDK7, SMN1, SMN2
|
| Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
|
| Growney JD, Scharf JM, Kunkel LM, Dietrich WF.
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| Genomics 64(1):62-81. 2000
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| 38 | SMN2
|
| High incidence of a survival motor neuron gene/cBCD541 gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan?
|
| Nishio H, et al.
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| J Neurol 246(1):48-52. 1999
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| 39 | SMN@, SMN1, SMN2
|
| A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
|
| Monani UR, et al.
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| Hum Mol Genet 8(7):1177-1183. 1999
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| 40 | SMN1, SMN2
|
| Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).
|
| Monani UR, et al.
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| Biochim Biophys Acta 1445(3):330-6. 1999
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| 41 | SERF1A, SERF1B, SMN1, SMN2, BDP1
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| Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
|
| Endrizzi M, Huang S, Scharf JM, Kelter AR, Wirth B, Kunkel LM, Miller W, Dietrich WF.
|
| Genomics 60(2):137-51. 1999
|
| 42 | PFN2, SMN1, SMN2
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| A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems.
|
| Giesemann T, Rathke-Hartlieb S, Rothkegel M, Bartsch JW, Buchmeier S, Jockusch BM, Jockusch H.
|
| J Biol Chem 274(53):37908-14. 1999
|
| 43 | AMCSMA1, SMN1, SMN2
|
| Prenatal onset spinal muscular atrophy.
|
| MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA.
|
| Eur J Paediatr Neurol 3(2):65-72. 1999
|
| 44 | SMN1, SMN2
|
| Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy.
|
| Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG.
|
| Eur J Hum Genet 6(5):467-74. 1998
|
| 45 | SMA, SMN2
|
| Differential SMN2 expression associated with SMA severity.
|
| Gavrilov DK, et al.
|
| Nat Genet 20 : 230-231. 1998
|
| 46 | NAIP, SMN1, SMN2, GTF2H2
|
| Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
|
| Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE.
|
| Genomics 48(1):121-7. 1998
|
| 47 | SMA, SMN2, SMN1
|
| Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.
|
| Schwartz M, et al.
|
| Hum Mol Genet 6 : 99-104. 1997
|
| 48 | SMA, SMN1, SMN2
|
| Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
|
| McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH.
|
| Am J Hum Genet 60(6):1411-22. 1997
|
| 49 | SMA, SMN2, SMN1
|
| Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.
|
| Zappata S, et al.
|
| Hum Genet 97 : 315-318. 1996
|
| 50 | SMA, SMN2, SMN1
|
| Gene deletions in spinal muscular atrophy.
|
| Rodrigues NR, et al.
|
| J Med Genet 33 : 93-96. 1996
|
| 51 | SMA, SMN2, SMN1
|
| Characterization of survival motor neuron (SMN T) gene deletions in asymptomatic carriers of spinal muscular atrophy.
|
| Wang CH, et al.
|
| Hum Mol Genet 5 : 359-365. 1996
|
| 52 | D5F149S1, D5F149S2, D5F150S1, D5F150S2, SMA, SMN1, SMN2
|
| Structure and organization of the human survival motor neurone (SMN) gene.
|
| Burglen L, et al.
|
| Genomics 32 : 479-482. 1996
|
| 53 | SMA, SMN2, SMN1
|
| Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
|
| Capon F, et al.
|
| Hum Mutat 7 : 198-201. 1996
|
| 54 | SMA, SMN2, SMN1
|
| Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
|
| Burlet P, et al.
|
| J Med Genet 33 : 281-283. 1996
|
| 55 | SMA, SMN2, SMN1
|
| Unusual molecular findings in autosomal recessive spinal muscular atrophy.
|
| Matthijs G, et al.
|
| J Med Genet 33 : 469-474. 1996
|
| 56 | SMA, SMN2, SMN1
|
| A novel nuclear structure containing the survival of motor neurons protein.
|
| Liu Q, et al.
|
| EMBO J 15 : 3555-3565. 1996
|
| 57 | SMN2, SMN1
|
| Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
|
| Van der Steege G, et al.
|
| Am J Hum Genet 59 : 834-838. 1996
|
| 58 | NAIP, SMA, SMN1, SMN2
|
| Molecular analysis of SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.
|
| Velasco E, et al.
|
| Hum Mol Genet 5 : 257-263. 1996
|
| 59 | SMN2, SMN1
|
| Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN) : a further possibility for distinguishing the two copies of the gene.
|
| Hahnen ET, et al.
|
| Hum Genet 98 : 122-123. 1996
|
| 60 | SMA, SMN2, SMN1
|
| Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
|
| Rudnik-Schneborn S, et al.
|
| Am J Hum Genet 59 : 1163-1165. 1996
|
| 61 | SMA, SMN2, SMN1
|
| Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy : new insights into molecular mechanisms responsible for the disease.
|
| Hahnen E, et al.
|
| Am J Hum Genet 59 : 1057-1065. 1996
|
| 62 | SMA, SMN2, SMN1
|
| Clinical and molecular genetic features of congenital spinal muscular atrophy.
|
| Devriendt K, et al.
|
| Ann Neurol 40 : 731-738. 1996
|
| 63 | SMA, SMN2, SMN1
|
| FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13.
|
| Rajcan-Separovic E, et al.
|
| Cytogenet Cell Genet 75 : 243-247. 1996
|
| 64 | SMN1, SMN2
|
| Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
|
| van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH.
|
| Am J Hum Genet 59(4):834-8.
1996
|
| 65 | SMA, SMN2, SMN1
|
| Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
|
| Cobben JM, et al.
|
| Am J Hum Genet 57 : 805-808. 1995
|
| 66 | SMA, SMN2, SMN1
|
| Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
|
| Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn S, Schonling J, Zerres K, Wirth B.
|
| Hum Mol Genet 4(10):1927-33. 1995
|
| 67 | SMA, SMN2, SMN1
|
| A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
|
| Bussaglia E, et al.
|
| Nat Genet 11 : 335-337. 1995
|
| 68 | SMA, SMN2, SMN1
|
| Molecular basis of spinal muscular atrophy in Chinese.
|
| Chang JG, et al.
|
| Am J Hum Genet 57 : 1503-1505. 1995
|
| 69 | SMA, SMN2, SMN1
|
| SMN gene deletions in adult-onset spinal muscular atrophy.
|
| Clermont O, et al.
|
| Lancet 346 : 1712-1713. 1995
|
| 70 | SMA, SMN2, SMN1
|
| Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
|
| Rodrigues NR, et al.
|
| Hum Mol Genet 4 : 631-634. 1995
|
| 71 | SMA, SMN2, SMN1
|
| Identification and characterization of a spinal muscular atrophy-determining gene.
|
| Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L,Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.
|
| Cell 80(1):155-65. 1995
|
| 72 | SMA, SMA3, SMA4, SMN1, SMN2
|
| Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.
|
| Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G.
|
| Lancet 346(8977):741-2. 1995
|
| 73 | SMA, SMN1, SMN2, D5F149S1, D5F149S2, D5F150S1, D5F150S2
|
| De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
|
| Melki J, et al.
|
| Science 264 : 1474-1477. 1994
|