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There are 54425 results for: content related to: In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms

  1. Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1249–1259, Neeraj Sharma, Patrick R. Sosnay, Anabela S. Ramalho, Christopher Douville, Arianna Franca, Laura B. Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen S. Raraigh, Margarida D. Amaral, Rachel Karchin and Garry R. Cutting

    Version of Record online : 10 SEP 2014, DOI: 10.1002/humu.22624

  2. Genetic variation of pre-mRNA alternative splicing in human populations

    Wiley Interdisciplinary Reviews: RNA

    Volume 3, Issue 4, July/August 2012, Pages: 581–592, Zhi-Xiang Lu, Peng Jiang and Yi Xing

    Version of Record online : 17 NOV 2011, DOI: 10.1002/wrna.120

  3. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1547–1557, Daniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, Julie Abdat, Thierry Frébourg, Mario Tosi and Alexandra Martins

    Version of Record online : 18 SEP 2013, DOI: 10.1002/humu.22428

  4. A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 773–782, Tomoya Kubota, Xavier Roca, Takashi Kimura, Yosuke Kokunai, Ichizo Nishino, Saburo Sakoda, Adrian R. Krainer and Masanori P. Takahashi

    Version of Record online : 28 APR 2011, DOI: 10.1002/humu.21501

  5. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Version of Record online : 7 AUG 2013, DOI: 10.1002/humu.22379

  6. Tenascin mRNA isoforms in the developing mouse brain

    Journal of Neuroscience Research

    Volume 37, Issue 3, 15 February 1994, Pages: 336–347, U. Dörries and M. Schachner

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490370306

  7. Identification and Characterization of Aberrant GAA Pre-mRNA Splicing in Pompe Disease Using a Generic Approach

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 57–68, Atze J. Bergsma, Marian Kroos, Marianne Hoogeveen-Westerveld, Dicky Halley, Ans T. van der Ploeg and W. W. Pijnappel

    Version of Record online : 1 DEC 2014, DOI: 10.1002/humu.22705

  8. CD5 expression is regulated during human T-cell activation by alternative polyadenylation, PTBP1, and miR-204

    European Journal of Immunology

    Volume 46, Issue 6, June 2016, Pages: 1490–1503, Rita G. Domingues, Inês Lago-Baldaia, Isabel Pereira-Castro, Joseph M. Fachini, Liliana Oliveira, Danica Drpic, Nair Lopes, Telmo Henriques, Joel R. Neilson, Alexandre M. Carmo and Alexandra Moreira

    Version of Record online : 15 APR 2016, DOI: 10.1002/eji.201545663

    Corrected by:

    Corrections: Corrections

    Vol. 46, Issue 8, 2054, Version of Record online: 12 AUG 2016

  9. The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 86–95, Rikke K. J. Olsen, Sabrina Brøner, Rugivan Sabaratnam, Thomas K. Doktor, Henriette S. Andersen, Gitte H. Bruun, Birthe Gahrn, Vibeke Stenbroen, Simon E. Olpin, Angus Dobbie, Niels Gregersen and Brage S. Andresen

    Version of Record online : 28 OCT 2013, DOI: 10.1002/humu.22455

  10. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22213

  11. You have free access to this content
    Xenopus as a model to study alternative splicing in vivo

    Biology of the Cell

    Volume 99, Issue 1, January 2007, Pages: 55–65, Agnes Méreau, Caroline Le Sommer, Hubert Lerivray, Michelle Lesimple and Serge Hardy

    Version of Record online : 9 JAN 2012, DOI: 10.1042/BC20060073

  12. Pre-mRNA splicing repression triggers abiotic stress signaling in plants

    The Plant Journal

    Accepted manuscript online: 24 SEP 2016, Yu Ling, Sahar Alshareef, Haroon Butt, Jorge Lozano-Juste, Lixin Li, Aya A. Galal, Ahmed Moustafa, Afaque Ahmad Momin, Manal Tashkandi, Dale N. Richardson, Hiroaki Fujii, Stefan Arold, Pedro L. Rodriguez, Paula Duque and Magdy M. Mahfouz

    DOI: 10.1111/tpj.13383

  13. You have free access to this content
    Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 504–512, Andrea Dal Mas, Paola Fortugno, Irving Donadon, Lauretta Levati, Daniele Castiglia and Franco Pagani

    Version of Record online : 19 MAR 2015, DOI: 10.1002/humu.22762

  14. Combined Computational–Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 873–881, Abdel Aissat, Alix de Becdelièvre, Lisa Golmard, Christian Vasseur, Catherine Costa, Asma Chaoui, Natacha Martin, Bruno Costes, Michel Goossens, Emmanuelle Girodon, Pascale Fanen and Alexandre Hinzpeter

    Version of Record online : 28 MAR 2013, DOI: 10.1002/humu.22300

  15. Regulation and differential expression of tau mRNA isoforms as oligodendrocytes mature in vivo: Implications for myelination


    Volume 37, Issue 3, 1 March 2002, Pages: 250–257, Patrizia Lopresti

    Version of Record online : 22 JAN 2002, DOI: 10.1002/glia.10035

  16. You have free access to this content
    From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss

    Human Mutation

    Volume 34, Issue 4, April 2013, Page: v, Sean Mooney

    Version of Record online : 20 MAR 2013, DOI: 10.1002/humu.22182

  17. Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1532–1541, Virginie Kergourlay, Ghadi Raï, Gaëlle Blandin, David Salgado, Christophe Béroud, Nicolas Lévy, Martin Krahn and Marc Bartoli

    Version of Record online : 24 NOV 2014, DOI: 10.1002/humu.22710

  18. You have full text access to this OnlineOpen article
    Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

    Human Mutation

    Volume 36, Issue 2, February 2015, Pages: 210–221, Alberto Acedo, Cristina Hernández-Moro, Álvaro Curiel-García, Beatriz Díez-Gómez and Eladio A. Velasco

    Version of Record online : 4 FEB 2015, DOI: 10.1002/humu.22725

  19. Human S100A15 splice variants are differentially expressed in inflammatory skin diseases and regulated through Th1 cytokines and calcium

    Experimental Dermatology

    Volume 16, Issue 8, August 2007, Pages: 685–691, Ronald Wolf, Virginia Lewerenz, Amanda S. Büchau, Markus Walz and Thomas Ruzicka

    Version of Record online : 6 JUL 2007, DOI: 10.1111/j.1600-0625.2007.00587.x

  20. The RNAissance family: SR proteins as multifaceted regulators of gene expression

    Wiley Interdisciplinary Reviews: RNA

    Volume 6, Issue 1, January/February 2015, Pages: 93–110, Jonathan M. Howard and Jeremy R. Sanford

    Version of Record online : 22 AUG 2014, DOI: 10.1002/wrna.1260