Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
暂无分享,去创建一个
Peter Johnson | D. Baralle | D. Eccles | M. Raponi | J. Královičová | E. Copson | P. Divina | I. Vořechovský | Peter W. M. Johnson | Peter W M Johnson | Petr Divina
[1] G. Sarkar,et al. The "megaprimer" method of site-directed mutagenesis. , 1990, BioTechniques.
[2] N L Harris,et al. Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. , 1990, Methods in enzymology.
[3] J. Lavergne,et al. Human Gene Mutation , 1994 .
[4] Oliver Mühlemann,et al. Inhibition by SR proteins of splicing of a regulated adenovirus pre-mRNA , 1996, Nature.
[5] A. Aguzzi,et al. Adenosine deaminase deficiency in adults. , 1997, Blood.
[6] Michael R. Green,et al. Targeting of U2AF65 to Sites of Active Splicing in the Nucleus , 1997, The Journal of cell biology.
[7] T. Cooper,et al. The regulation of splice-site selection, and its role in human disease. , 1997, American journal of human genetics.
[8] B. Koller,et al. BRCA1 required for transcription-coupled repair of oxidative DNA damage. , 1998, Science.
[9] C. R. Valentine,et al. The association of nonsense codons with exon skipping. , 1998, Mutation research.
[10] G M Lenoir,et al. A BRCA1 nonsense mutation causes exon skipping. , 1998, American journal of human genetics.
[11] Sara G. Becker-Catania,et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. , 1999, American journal of human genetics.
[12] Michael R. Green,et al. Functional recognition of the 3′ splice site AG by the splicing factor U2AF35 , 1999, Nature.
[13] Michael Q. Zhang,et al. Exonic Splicing Enhancer Motif Recognized by Human SC35 under Splicing Conditions , 2000, Molecular and Cellular Biology.
[14] C. Lorson,et al. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. , 2000, Human molecular genetics.
[15] X. Estivill,et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. , 2000, Human molecular genetics.
[16] Michael Q. Zhang,et al. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes , 2001, Nature Genetics.
[17] S. Lipkin,et al. A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. , 2001, Cancer research.
[18] Olufunmilayo I Olopade,et al. BRCA2 T2722R is a deleterious allele that causes exon skipping. , 2002, American journal of human genetics.
[19] R. Desnick,et al. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. , 2002, American journal of human genetics.
[20] A. Krainer,et al. Listening to silence and understanding nonsense: exonic mutations that affect splicing , 2002, Nature Reviews Genetics.
[21] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[22] M. King,et al. Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2 , 2003, Science.
[23] J. G. Patton,et al. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II , 2003, Human Genetics.
[24] Teresa Casals,et al. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. , 2003, Human molecular genetics.
[25] Christopher B. Burge,et al. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals , 2003, RECOMB '03.
[26] Gene W. Yeo,et al. Systematic Identification and Analysis of Exonic Splicing Silencers , 2004, Cell.
[27] J. Královičová,et al. Branch site haplotypes that control alternative splicing. , 2004, Human molecular genetics.
[28] Christopher B. Burge,et al. RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons , 2004, Nucleic Acids Res..
[29] L. Chasin,et al. Computational definition of sequence motifs governing constitutive exon splicing. , 2004, Genes & development.
[30] D. Turner,et al. Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[31] I. Vořechovský,et al. Identification of Splicing Silencers and Enhancers in Sense Alus: a Role for Pseudoacceptors in Splice Site Repression , 2005, Molecular and Cellular Biology.
[32] M. Raponi,et al. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[33] J. Ellis,et al. Multiple roles of arginine/serine-rich splicing factors in RNA processing. , 2005, Biochemical Society transactions.
[34] G. Ast,et al. Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation. , 2005, Human molecular genetics.
[35] Leandro Quadrana,et al. Concerted regulation of nuclear and cytoplasmic activities of SR proteins by AKT , 2005, Nature Structural &Molecular Biology.
[36] G. Guanti,et al. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects , 2006, BMC Genomics.
[37] Gene W. Yeo,et al. Inference of Splicing Regulatory Activities by Sequence Neighborhood Analysis , 2006, PLoS genetics.
[38] G. Ast,et al. Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers. , 2006, Molecular cell.
[39] Michael Q. Zhang,et al. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. , 2006, Human molecular genetics.
[40] S. Brennan,et al. An intronic mutation within FGB (IVS1+2076 a→g) is associated with afibrinogenemia and recurrent transient ischemic attacks , 2006, Journal of thrombosis and haemostasis : JTH.
[41] Zefeng Wang,et al. General and specific functions of exonic splicing silencers in splicing control. , 2006, Molecular cell.
[42] W. Foulkes,et al. Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family , 2005, Journal of Medical Genetics.
[43] Qing Wang,et al. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing , 2006, Human mutation.
[44] Francisco E. Baralle,et al. Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12 , 2006, Nucleic acids research.
[45] Rolf Backofen,et al. Pre-mRNA Secondary Structures Influence Exon Recognition , 2007, PLoS genetics.
[46] J. Královičová,et al. Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition , 2007, Nucleic acids research.
[47] C. Lázaro,et al. Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations , 2008, Human mutation.
[48] Marco Baralle,et al. The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors , 2008, FEBS letters.
[49] J. Tazi,et al. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects , 2008, Human mutation.
[50] Michael Q. Zhang,et al. RNA landscape of evolution for optimal exon and intron discrimination , 2008, Proceedings of the National Academy of Sciences.
[51] R. Lidereau,et al. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene , 2008, Journal of Medical Genetics.
[52] Jan Komorowski,et al. Nucleosomes are well positioned in exons and carry characteristic histone modifications. , 2009, Genome research.
[53] M. Alló,et al. Neuronal cell depolarization induces intragenic chromatin modifications affecting NCAM alternative splicing , 2009, Proceedings of the National Academy of Sciences.
[54] Noah Spies,et al. Biased chromatin signatures around polyadenylation sites and exons. , 2009, Molecular cell.
[55] Igor Vorechovsky,et al. Transposable elements in disease-associated cryptic exons , 2010, Human Genetics.
[56] P. Stenson,et al. The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.
[57] Schraga Schwartz,et al. SROOGLE: webserver for integrative, user-friendly visualization of splicing signals , 2009, Nucleic Acids Res..
[58] A. Spurdle,et al. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts , 2010, BMC Medical Genetics.
[59] J. Ahringer,et al. Differential chromatin marking of introns and expressed exons by H3K36me3 , 2008, Nature Genetics.
[60] B. Blencowe,et al. When chromatin meets splicing , 2009, Nature Structural &Molecular Biology.
[61] Joonhee Han,et al. SR proteins in vertical integration of gene expression from transcription to RNA processing to translation. , 2009, Molecular cell.
[62] Christoforos Nikolaou,et al. Nucleosome positioning as a determinant of exon recognition , 2009, Nature Structural &Molecular Biology.
[63] Francesco Piva,et al. SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans , 2009, Bioinform..
[64] Lili Wan,et al. RNA and Disease , 2009, Cell.
[65] Petr Divina,et al. Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping , 2009, European Journal of Human Genetics.
[66] C. Toulas,et al. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding , 2010, Breast Cancer Research and Treatment.
[67] F. Pagani,et al. A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients , 2010, Clinical Cancer Research.
[68] I. Bièche,et al. A missense variant within BRCA1 exon 23 causing exon skipping. , 2010, Cancer genetics and cytogenetics.
[69] J. Královičová,et al. Allele-specific recognition of the 3′ splice site of INS intron 1 , 2010, Human Genetics.
[70] T. Frebourg,et al. The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements , 2010, Journal of Medical Genetics.
[71] R. Amann,et al. Predictive Identification of Exonic Splicing Enhancers in Human Genes , 2022 .