Indexed keywords
ATAXIN 3;
GENOMIC DNA;
ATXN3 PROTEIN, HUMAN;
DNA;
ISOPROTEIN;
MESSENGER RNA;
NERVE PROTEIN;
NUCLEAR PROTEIN;
REPRESSOR PROTEIN;
RNA BINDING PROTEIN;
ALLELE;
ALTERNATIVE RNA SPLICING;
ARTICLE;
CLINICAL ARTICLE;
CONTROLLED STUDY;
DNA FLANKING REGION;
GENE SEQUENCE;
GENETIC VARIABILITY;
GENOTYPE;
HUMAN;
MACHADO JOSEPH DISEASE;
POLYMERASE CHAIN REACTION;
SEQUENCE ANALYSIS;
SINGLE NUCLEOTIDE POLYMORPHISM;
CHEMISTRY;
DNA SEQUENCE;
EXON;
GENE EXPRESSION REGULATION;
GENETICS;
INTRON;
METABOLISM;
PROTEIN BINDING;
REGULATORY SEQUENCE;
ALLELES;
ALTERNATIVE SPLICING;
DNA;
EXONS;
GENE EXPRESSION REGULATION;
HUMANS;
INTRONS;
MACHADO-JOSEPH DISEASE;
NERVE TISSUE PROTEINS;
NUCLEAR PROTEINS;
POLYMORPHISM, SINGLE NUCLEOTIDE;
PROTEIN BINDING;
PROTEIN ISOFORMS;
REGULATORY ELEMENTS, TRANSCRIPTIONAL;
REPRESSOR PROTEINS;
RNA, MESSENGER;
RNA-BINDING PROTEINS;
SEQUENCE ANALYSIS, DNA;
MLCS;
MLOWN;
1
79957861210
Machado-Joseph disease: From first descriptions to new perspectives
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Bettencourt, C.1
Lima, M.2
2
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Increased transcript diversity: Novel splicing variants of Machado-Joseph disease gene (Atxn3)
19714377 10.1007/s10048-009-0216-y 1:CAS:528:DC%2BC3cXkvVyntbk%3D
Bettencourt C, Santos C, Montiel R et al (2010a) Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (Atxn3). Neurogenetics 11:193-202
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Bettencourt, C.1
Santos, C.2
Montiel, R.3
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The (CAG)n tract of Machado-Joseph disease gene (Atxn3): A comparison between DNA and mRNA in patients and controls
19935829 10.1038/ejhg.2009.215 1:CAS:528:DC%2BC3cXltVGisLk%3D
Bettencourt C, Santos C, Montiel R et al (2010b) The (CAG)n tract of Machado-Joseph disease gene (Atxn3): a comparison between DNA and mRNA in patients and controls. Eur J Hum Genet 18:621-623
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Bettencourt, C.1
Santos, C.2
Montiel, R.3
4
83455217478
The Ε2 allele of APOE increases the risk of earlier age-at-onset in Machado-Joseph disease (MJD/SCA3)
22159055 10.1001/archneurol.2011.636
Bettencourt C, Raposo M, Kazachkova N et al (2011) The Ε2 allele of APOE increases the risk of earlier age-at-onset in Machado-Joseph disease (MJD/SCA3). Arch Neurol 68:1580-1583
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5
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Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3)
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Bettencourt C, Raposo M, Kazachkova N, et al. (2012) Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum. doi: 10.1007/s12311-012-0373-7
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Cerebellum
Bettencourt, C.1
Raposo, M.2
Kazachkova, N.3
6
0042242582
Esefinder: A web resource to identify exonic splicing enhancers
12824367 10.1093/nar/gkg616 1:CAS:528:DC%2BD3sXltVWisLw%3D
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) Esefinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31:3568-3571
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Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
8
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Rna splicing: Disease and therapy
21628314 10.1093/bfgp/elr020 1:CAS:528:DC%2BC3MXntFKmu7o%3D
Douglas AG, Wood MJ (2011) Rna splicing: disease and therapy. Brief Funct Genomics 10:151-164
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Douglas, A.G.1
Wood, M.J.2
9
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Alternative splicing: Regulation without regulators
19125169 10.1038/nsmb0109-13 1:CAS:528:DC%2BD1MXhtlWjsQ%3D%3D
Graveley BR (2009) Alternative splicing: regulation without regulators. Nat Struct Mol Biol 16:13-15
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Graveley, B.R.1
10
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Bioedit: A user-friendly biological sequence alignment editor and analysis program for windows 95/98/Nt
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Hall TA (1999) Bioedit: a user-friendly biological sequence alignment editor and analysis program for windows 95/98/Nt. Nucl Acids Symp Ser 41:95-98
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Hall, T.A.1
11
42649130345
Widespread and subtle: Alternative splicing at short-distance tandem sites
18394746 10.1016/j.tig.2008.03.003 1:CAS:528:DC%2BD1cXlslWisbk%3D
Hiller M, Platzer M (2008) Widespread and subtle: alternative splicing at short-distance tandem sites. Trends Genet 24:246-255
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Trends Genet , vol.24
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Hiller, M.1
Platzer, M.2
12
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Rna sequencing reveals the role of splicing polymorphisms in regulating human gene expression
21173033 10.1101/gr.111211.110 1:CAS:528:DC%2BC3MXkslansLg%3D
Lalonde E, Ha KC, Wang Z et al (2011) Rna sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res 21:545-554
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Lalonde, E.1
Ha, K.C.2
Wang, Z.3
13
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Neuronal regulation of alternative pre-mRNA splicing
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Li Q, Lee JA, Black DL (2007) Neuronal regulation of alternative pre-mRNA splicing. Nat Rev Neurosci 8:819-831
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Li, Q.1
Lee, J.A.2
Black, D.L.3
14
42449098125
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
18369186 10.1261/rna.876308 1:CAS:528:DC%2BD1cXls1Wrsbc%3D
Wang Z, Burge CB (2008) Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 14:802-813
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Wang, Z.1
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15
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The pathobiology of splicing
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Ward AJ, Cooper TA (2010) The pathobiology of splicing. J Pathol 220:152-163
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Ward, A.J.1
Cooper, T.A.2
16
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RNA-targeted splice-correction therapy for neuromuscular disease
20150322 10.1093/brain/awq002
Wood MJ, Gait MJ, Yin H (2010) RNA-targeted splice-correction therapy for neuromuscular disease. Brain 133:957-972
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Wood, M.J.1
Gait, M.J.2
Yin, H.3
17
57649231776
Dynamic regulation of alternative splicing by silencers that modulate 5′ splice site competition
19109894 10.1016/j.cell.2008.10.046 1:CAS:528:DC%2BD1MXisFyjtQ%3D%3D
Yu Y, Maroney PA, Denker JA et al (2008) Dynamic regulation of alternative splicing by silencers that modulate 5′ splice site competition. Cell 135:1224-1236
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Yu, Y.1
Maroney, P.A.2
Denker, J.A.3
