Literature DB >> 19648957

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

Diana Baralle1, Anneke Lucassen, Emanuele Buratti.   

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Year:  2009        PMID： 19648957      PMCID： PMC2726684          DOI： 10.1038/embor.2009.170

Source DB:  PubMed          Journal:  EMBO Rep        ISSN： 1469-221X            Impact factor:   8.807


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  26 in total

Review 1.  Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

Authors:  Lynne E Maquat
Journal:  Nat Rev Mol Cell Biol       Date:  2004-02       Impact factor: 94.444

Review 2.  Influence of RNA secondary structure on the pre-mRNA splicing process.

Authors:  Emanuele Buratti; Francisco E Baralle
Journal:  Mol Cell Biol       Date:  2004-12       Impact factor: 4.272

3.  Use of minigene systems to dissect alternative splicing elements.

Authors:  Thomas A Cooper
Journal:  Methods       Date:  2005-12       Impact factor: 3.608

4.  Analyzing mechanisms of alternative pre-mRNA splicing using in vitro splicing assays.

Authors:  Martin J Hicks; Bianca J Lam; Klemens J Hertel
Journal:  Methods       Date:  2005-12       Impact factor: 3.608

5.  Frame that gene. A tool for analysing and classifying the communication of genetics to the public.

Authors:  Rebecca Carver; Ragnar Waldahl; Jarle Breivik
Journal:  EMBO Rep       Date:  2008-09-05       Impact factor: 8.807

Review 6.  Alternative splicing and disease.

Authors:  Jamal Tazi; Nadia Bakkour; Stefan Stamm
Journal:  Biochim Biophys Acta       Date:  2008-10-17

Review 7.  Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?

Authors:  Linda Hartmann; Stephan Theiss; Dieter Niederacher; Heiner Schaal
Journal:  Front Biosci       Date:  2008-05-01

Review 8.  Genomic variants in exons and introns: identifying the splicing spoilers.

Authors:  Franco Pagani; Francisco E Baralle
Journal:  Nat Rev Genet       Date:  2004-05       Impact factor: 53.242

9.  NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

Authors:  Marco Baralle; Natasa Skoko; Anna Knezevich; Laura De Conti; Dario Motti; Madhuri Bhuvanagiri; Diana Baralle; Emanuele Buratti; Francisco E Baralle
Journal:  FEBS Lett       Date:  2006-07-14       Impact factor: 4.124

Review 10.  Modulating the expression of disease genes with RNA-based therapy.

Authors:  Matthew Wood; Haifang Yin; Graham McClorey
Journal:  PLoS Genet       Date:  2007-06       Impact factor: 5.917
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  49 in total

1.  Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Authors:  Stefania Zampieri; Emanuele Buratti; Silvia Dominissini; Anna Lisa Montalvo; Maria Gabriela Pittis; Bruno Bembi; Andrea Dardis
Journal:  Eur J Hum Genet       Date:  2010-12-22       Impact factor: 4.246

2.  Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B.

Authors:  Friederike Flachsbart; Michael Möller; Carolin Däumer; Liljana Gentschew; Rabea Kleindorp; Michael Krawczak; Amke Caliebe; Stefan Schreiber; Almut Nebel
Journal:  Eur J Hum Genet       Date:  2012-05-16       Impact factor: 4.246

3.  Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

Authors:  Johannes G Dauwerse; Martine van Belzen; Arie van Haeringen; Gijs van Santen; Christian van de Lans; Elisa Rahikkala; Livia Garavelli; Martijn Breuning; Raoul Hennekam; Dorien Peters
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

4.  Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

Authors:  Laia Masvidal; Susana Igreja; Maria D Ramos; Antoni Alvarez; Javier de Gracia; Anabela Ramalho; Margarida D Amaral; Sara Larriba; Teresa Casals
Journal:  Eur J Hum Genet       Date:  2013-10-16       Impact factor: 4.246

5.  RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Authors:  Mario Tosi; Stefan Stamm; Diana Baralle
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246

6.  Characterization of variegate porphyria mutations using a minigene approach.

Authors:  Barbara Xoana Granata; Marco Baralle; Laura De Conti; Victoria Parera; Maria Victoria Rossetti
Journal:  JIMD Rep       Date:  2015-02-01

Review 7.  Alternative splicing: a pivotal step between eukaryotic transcription and translation.

Authors:  Alberto R Kornblihtt; Ignacio E Schor; Mariano Alló; Gwendal Dujardin; Ezequiel Petrillo; Manuel J Muñoz
Journal:  Nat Rev Mol Cell Biol       Date:  2013-02-06       Impact factor: 94.444

8.  Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.

Authors:  Paula Fernández-Guerra; Rosa Navarrete; Kara Weisiger; Lourdes R Desviat; Seymour Packman; Magdalena Ugarte; Pilar Rodríguez-Pombo
Journal:  J Inherit Metab Dis       Date:  2010-04-30       Impact factor: 4.982

9.  Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Authors:  Raphaël Leman; Pascaline Gaildrat; Gérald Le Gac; Chandran Ka; Yann Fichou; Marie-Pierre Audrezet; Virginie Caux-Moncoutier; Sandrine M Caputo; Nadia Boutry-Kryza; Mélanie Léone; Sylvie Mazoyer; Françoise Bonnet-Dorion; Nicolas Sevenet; Marine Guillaud-Bataille; Etienne Rouleau; Brigitte Bressac-de Paillerets; Barbara Wappenschmidt; Maria Rossing; Danielle Muller; Violaine Bourdon; Françoise Revillon; Michael T Parsons; Antoine Rousselin; Grégoire Davy; Gaia Castelain; Laurent Castéra; Joanna Sokolowska; Florence Coulet; Capucine Delnatte; Claude Férec; Amanda B Spurdle; Alexandra Martins; Sophie Krieger; Claude Houdayer
Journal:  Nucleic Acids Res       Date:  2018-09-06       Impact factor: 16.971

10.  Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.

Authors:  Ariful Haque; Emanuele Buratti; Francisco E Baralle
Journal:  Nucleic Acids Res       Date:  2009-11-12       Impact factor: 16.971
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