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An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 600, doi. 10.1002/ajmg.a.62530
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- Publication type:
- Article
Alternative splicing and liver disease.
- Published in:
- Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2021, v. 26, p. 1, doi. 10.1016/j.aohep.2021.100534
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- Publication type:
- Article
The TDP-43 N-terminal domain structure at high resolution.
- Published in:
- FEBS Journal, 2016, v. 283, n. 7, p. 1242, doi. 10.1111/febs.13651
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- Publication type:
- Article
Absence of TDP-43 is difficult to digest.
- Published in:
- EMBO Journal, 2016, v. 35, n. 2, p. 115, doi. 10.15252/embj.201593603
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- Publication type:
- Article
Glial TDP-43 regulates axon wrapping, GluRIIA clustering and fly motility by autonomous and non-autonomous mechanisms.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6134, doi. 10.1093/hmg/ddv330
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- Publication type:
- Article
TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 9, doi. 10.1093/hmg/ddu415
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- Publication type:
- Article
Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 5, p. 3362, doi. 10.1093/nar/gkt1343
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- Publication type:
- Article
Exon First Nucleotide Mutations in Splicing: Evaluation of <i>In Silico</i> Prediction Tools.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089570
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- Publication type:
- Article
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 2, p. 1291, doi. 10.1093/nar/gkt987
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- Publication type:
- Article
The role of TDP-43 in the pathogenesis of ALS and FTLD.
- Published in:
- Biochemical Society Transactions, 2013, v. 41, n. 6, p. 1536, doi. 10.1042/BST20130186
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- Publication type:
- Article
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43.
- Published in:
- Nature Structural & Molecular Biology, 2013, v. 20, n. 12, p. 1443, doi. 10.1038/nsmb.2698
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- Publication type:
- Article
HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 18, p. 8665, doi. 10.1093/nar/gkt579
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- Publication type:
- Article
Characterizing TDP-43 interaction with its RNA targets.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 9, p. 5062, doi. 10.1093/nar/gkt189
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- Publication type:
- Article
From single splicing events to thousands: the ambiguous step forward in splicing research.
- Published in:
- Briefings in Functional Genomics, 2013, v. 12, n. 1, p. 3, doi. 10.1093/bfgp/els048
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- Publication type:
- Article
Mutually exclusive splicing regulates the Nav 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 13, p. 6255, doi. 10.1093/nar/gks249
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- Publication type:
- Article
TDP-43: Overview of the series.
- Published in:
- FEBS Journal, 2011, v. 278, n. 19, p. 3529, doi. 10.1111/j.1742-4658.2011.08278.x
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- Publication type:
- Article
TDP-43: new aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease.
- Published in:
- FEBS Journal, 2011, v. 278, n. 19, p. 3530, doi. 10.1111/j.1742-4658.2011.08257.x
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- Publication type:
- Article
TDP-43 Regulates Drosophila Neuromuscular Junctions Growth by Modulating Futsch/MAP1B Levels and Synaptic Microtubules Organization.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017808
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- Publication type:
- Article
TDP-43 regulates its mRNA levels through a negative feedback loop.
- Published in:
- EMBO Journal, 2011, v. 30, n. 2, p. 277, doi. 10.1038/emboj.2010.310
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- Publication type:
- Article
Neurons don't appreciate FUSsing in the cytoplasm.
- Published in:
- EMBO Journal, 2010, v. 29, n. 16, p. 2769, doi. 10.1038/emboj.2010.163
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- Publication type:
- Article
The intronic splicing code: multiple factors involved in ATM pseudoexon definition.
- Published in:
- EMBO Journal, 2010, v. 29, n. 4, p. 749, doi. 10.1038/emboj.2009.397
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- Publication type:
- Article
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 2, p. 647, doi. 10.1093/nar/gkp1040
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- Publication type:
- Article
Italy leads the way in supporting African biotechnology.
- Published in:
- 2009
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- Publication type:
- Letter
Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior
- Published in:
- FEBS Letters, 2009, v. 583, n. 10, p. 1586, doi. 10.1016/j.febslet.2009.04.019
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- Publication type:
- Article
Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells
- Published in:
- FEBS Letters, 2009, v. 583, n. 2, p. 394, doi. 10.1016/j.febslet.2008.12.031
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- Publication type:
- Article
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 12, p. 4116, doi. 10.1093/nar/gkp342
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- Publication type:
- Article
Dissecting the splicing mechanism of the Drosophila editing enzyme; dADAR.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 5, p. 1663, doi. 10.1093/nar/gkn1080
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- Publication type:
- Article
Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS
- Published in:
- FEBS Letters, 2008, v. 582, n. 19, p. 2899, doi. 10.1016/j.febslet.2008.07.027
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- Publication type:
- Article
P1-140: Aggregation of phosphorylated and ubiquitinated TDP-43 in SH-SY5Y cells
- Published in:
- 2008
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- Publication type:
- Abstract
The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors
- Published in:
- FEBS Letters, 2008, v. 582, n. 15, p. 2231, doi. 10.1016/j.febslet.2008.05.018
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- Publication type:
- Article
Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine β-synthase gene in great apes.
- Published in:
- FEBS Letters, 2008, v. 582, n. 3, p. 423, doi. 10.1016/j.febslet.2007.12.038
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- Publication type:
- Article
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
- Published in:
- Nature, 2007, v. 448, n. 7156, p. 934, doi. 10.1038/nature06066
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- Publication type:
- Article
SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 13, p. 4359, doi. 10.1093/nar/gkm444
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- Publication type:
- Article
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 13, p. 4369, doi. 10.1093/nar/gkm447
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- Publication type:
- Article
Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 2, p. 606
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- Publication type:
- Article
Complex splicing control of the human Thrombopoietin gene by intronic G runs.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 1, p. 132
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- Publication type:
- Article
NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
- Published in:
- FEBS Letters, 2006, v. 580, n. 18, p. 4449, doi. 10.1016/j.febslet.2006.07.018
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- Publication type:
- Article
Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 12, p. 3494, doi. 10.1093/nar/gkl498
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- Publication type:
- Article
TDP43 depletion rescues aberrant CFTR exon 9 skipping
- Published in:
- FEBS Letters, 2006, v. 580, n. 5, p. 1339, doi. 10.1016/j.febslet.2006.01.052
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- Publication type:
- Article
Brain-specific promoter and polyadenylation sites of the β-adducin pre-mRNA generate an unusually long 3′-UTR.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 1, p. 243, doi. 10.1093/nar/gkj425
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- Publication type:
- Article
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 18, p. 6000, doi. 10.1093/nar/gki897
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- Publication type:
- Article
Functional studies on the ATM intronic splicing processing element.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 13, p. 4007, doi. 10.1093/nar/gki710
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- Publication type:
- Article
The erythrocyte skeletons of β-adducin deficient mice have altered levels of tropomyosin, tropomodulin and EcapZ
- Published in:
- FEBS Letters, 2004, v. 576, n. 1/2, p. 36, doi. 10.1016/j.febslet.2004.08.057
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- Publication type:
- Article
hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 14, p. 4224, doi. 10.1093/nar/gkh752
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- Publication type:
- Article
Genetic characterization of myeloperoxidase deficiency in Italy.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 496, doi. 10.1002/humu.20027
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- Publication type:
- Article
Genomic variants in exons and introns: identifying the splicing spoilers.
- Published in:
- 2004
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- Publication type:
- journal article
Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.
- Published in:
- Journal of Cell Biology, 2003, v. 162, n. 1, p. 149, doi. 10.1083/jcb.200212079
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- Publication type:
- Article
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1111, doi. 10.1093/hmg/ddg131
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- Publication type:
- Article
A new type of mutation causes a splicing defect in ATM.
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 426, doi. 10.1038/ng858
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- Publication type:
- Article
Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping.
- Published in:
- EMBO Journal, 2001, v. 20, n. 7, p. 1774, doi. 10.1093/emboj/20.7.1774
- By:
- Publication type:
- Article