Developments in RNA Splicing and Disease

Alternative isoform regulation in human tissue transcriptomes

Wang, E. T., Sandberg, R., Luo, S., Khrebtukova, I., Zhang, L., Mayr, C., Kingsmore, S. F., Schroth, G. P., & Burge, C. B. (2008) · Nature · doi:10.1038/nature07509 · Cited by 5,181 · see citing works

The Spliceosome: Design Principles of a Dynamic RNP Machine

Wahl, M. C., Will, C. L., & Lührmann, R. (2009) · Cell · doi:10.1016/j.cell.2009.02.009 · Cited by 2,665 · see citing works

RNA and Disease

Cooper, T. A., Wan, L., & Dreyfuss, G. (2009) · Cell · doi:10.1016/j.cell.2009.02.011 · Cited by 1,152 · see citing works

The SR protein family of splicing factors: master regulators of gene expression

Long, J. C., & Cáceres, J. F. (2008) · Biochemical Journal · doi:10.1042/bj20081501 · Cited by 1,125 · see citing works

Alternative Splicing: New Insights from Global Analyses

Blencowe, B. J. (2006) · Cell · doi:10.1016/j.cell.2006.06.023 · Cited by 1,122 · see citing works

Alternative splicing and evolution: diversification, exon definition and function

Keren, H., Lev-Maor, G., & Ast, G. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2776 · Cited by 1,082 · see citing works

Splicing regulation: From a parts list of regulatory elements to an integrated splicing code

Wang, Z., & Burge, C. B. (2008) · RNA · doi:10.1261/rna.876308 · Cited by 1,076 · see citing works

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

Hagerman, R. J., Leehey, M. A., Heinrichs, W. L., Tassone, F., Wilson, R., Hills, J. D., Grigsby, J., Gage, B. F., & Hagerman, P. J. (2001) · Neurology · doi:10.1212/wnl.57.1.127 · Cited by 966 · see citing works

RNA processing and its regulation: global insights into biological networks

Licatalosi, D. D., & Darnell, R. B. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2673 · Cited by 760 · see citing works

A Muscleblind Knockout Model for Myotonic Dystrophy

Kanadia, R. N., Johnstone, K. A., Mankodi, A., Lungu, C., Thornton, C. A., Esson, D., Timmers, A. M., Hauswirth, W. W., & Swanson, M. S. (2003) · Science · doi:10.1126/science.1088583 · Cited by 743 · see citing works

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Burghes, A. H. M., & Beattie, C. E. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2670 · Cited by 723 · see citing works

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

Zhang, Z., Lotti, F., Dittmar, K. A., Younis, I., Wan, L., Kasim, M., & Dreyfuss, G. (2008) · Cell · doi:10.1016/j.cell.2008.03.031 · Cited by 610 · see citing works

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

Hua, Y., Vickers, T. A., Okunola, H. L., Bennett, C. F., & Krainer, A. R. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.014 · Cited by 570 · see citing works

Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes

Richard, G., Kerrest, A., & Dujon, B. (2008) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00011-08 · Cited by 549 · see citing works

Alternative splicing and disease

Tazi, J., Bakkour, N., & Stamm, S. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2008.09.017 · Cited by 541 · see citing works

An RNA map predicting Nova-dependent splicing regulation

Ule, J., Stefani, G., Mele, A., Ruggiu, M., Wang, X., Taneri, B., Gaasterland, T., Blencowe, B. J., & Darnell, R. B. (2006) · Nature · doi:10.1038/nature05304 · Cited by 528 · see citing works

Facioscapulohumeral muscular dystrophy

Tawil, R., & Van Der Maarel, S. M. (2006) · Muscle & Nerve · doi:10.1002/mus.20522 · Cited by 441 · see citing works

The Birth of an Alternatively Spliced Exon: 3' Splice-Site Selection in Alu Exons

Lev-Maor, G., Sorek, R., Shomron, N., & Ast, G. (2003) · Science · doi:10.1126/science.1082588 · Cited by 435 · see citing works

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8

Moseley, M. L., Zu, T., Ikeda, Y., Gao, W., Mosemiller, A. K., Daughters, R. S., Chen, G., Weatherspoon, M. R., Clark, H. B., Ebner, T. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1827 · Cited by 422 · see citing works

Morphological, physiological, and biochemical changes in rhodopsin knockout mice

Lem, J., Krasnoperova, N. V., Calvert, P. D., Kosaras, B., Cameron, D. A., Nicolò, M., Makino, C. L., & Sidman, R. L. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.2.736 · Cited by 395 · see citing works

hnRNP Proteins and Splicing Control

Martínez-Contreras, R. D., Cloutier, P., Shkreta, L., Fisette, J., Revil, T., & Chabot, B. (2007) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-77374-2_8 · Cited by 394 · see citing works

Isolation of an active step I spliceosome and composition of its RNP core

Bessonov, S., Anokhina, M. M., Will, C. L., Urlaub, H., & Lührmann, R. (2008) · Nature · doi:10.1038/nature06842 · Cited by 390 · see citing works

DUX4 , a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

Dixit, M., Ansseau, E., Tassin, A., Winokur, S. T., Shi, R., Qian, H., Sauvage, S., Mattéotti, C., Acker, A.-M. V., Léo, O., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708659104 · Cited by 387 · see citing works

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

Sellier, C., Rau, F., Liu, Y., Tassone, F., Hukema, R. K., Gattoni, R. C., Schneider‐Anthony, A., Richard, S., Willemsen, R., Elliott, D. J., et al. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.21 · Cited by 358 · see citing works

Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease

Monani, U. R. (2005) · Neuron · doi:10.1016/j.neuron.2005.12.001 · Cited by 352 · see citing works

The SMN complex, an assemblyosome of ribonucleoproteins

Paushkin, S. V., Gubitz, A. K., Massenet, S., & Dreyfuss, G. (2002) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(02)00332-0 · Cited by 351 · see citing works

Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon

Hua, Y., Vickers, T. A., Baker, B. F., Bennett, C. F., & Krainer, A. R. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050073 · Cited by 340 · see citing works

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

Du, H., Cline, M. S., Osborne, R. J., Tuttle, D. L., Clark, T. A., Donohue, J. P., Hall, M. P., Shiue, L., Swanson, M. S., Thornton, C. A., et al. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1720 · Cited by 332 · see citing works

An isogenetic myoblast expression screen identifies DUX4‐mediated FSHD‐associated molecular pathologies

Bosnakovski, D., Xu, Z., Gang, E. J., Galindo, C. L., Liu, M., Simsek, T., Garner, H. R., Agha‐Mohammadi, S., Tassin, A., Coppée, F., et al. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.201 · Cited by 322 · see citing works

Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines

Castle, J. C., Zhang, C., Shah, J. K., Kulkarni, A., Kalsotra, A., Cooper, T. A., & Johnson, J. M. (2008) · Nature Genetics · doi:10.1038/ng.264 · Cited by 319 · see citing works

Dystrophin, its interactions with other proteins, and implications for muscular dystrophy

Ervasti, J. M. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2006.05.010 · Cited by 318 · see citing works

Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs

Gabanella, F., Butchbach, M. E. R., Saieva, L., Carissimi, C., Burghes, A. H. M., & Pellizzoni, L. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000921 · Cited by 315 · see citing works

Sticky DNA

Sakamoto, N., Chastain, P. D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J. D., & Wells, R. D. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80474-8 · Cited by 313 · see citing works

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.019 · Cited by 302 · see citing works

Protein Composition and Electron Microscopy Structure of Affinity-Purified Human Spliceosomal B Complexes Isolated under Physiological Conditions

Deckert, J., Hartmuth, K., Boehringer, D., Behzadnia, N., Will, C. L., Kastner, B., Stark, H., Urlaub, H., & Lührmann, R. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.00582-06 · Cited by 301 · see citing works

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

Daughters, R. S., Tuttle, D. L., Gao, W., Ikeda, Y., Moseley, M. L., Ebner, T. J., Swanson, M. S., & Ranum, L. P. W. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000600 · Cited by 278 · see citing works

DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

Saveliev, A., Everett, C. M., Sharpe, T., Webster, Z., & Festenstein, R. (2003) · Nature · doi:10.1038/nature01596 · Cited by 258 · see citing works

Splicing Regulation in Neurologic Disease

Licatalosi, D. D., & Darnell, R. B. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.017 · Cited by 250 · see citing works

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy

Ho, T. H., Bundman, D. S., Armstrong, D. L., & Cooper, T. A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi162 · Cited by 242 · see citing works

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

Bäumer, D., Lee, S., Nicholson, G., Davies, J. L., Parkinson, N., Murray, L. M., Gillingwater, T. H., Ansorge, O., Davies, K. E., & Talbot, K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000773 · Cited by 227 · see citing works

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Snider, L. D., Asawachaicharn, A., Tyler, A. E., Geng, L. N., Petek, L. M., Maves, L., Miller, D. G., Lemmers, R. J. L. F., Winokur, S. T., Tawil, R., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp180 · Cited by 221 · see citing works

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

Gabellini, D., D’Antona, G., Moggio, M. G., Prelle, A. C., Zecca, C., Adami, R., Angeletti, B., Ciscato, P., Pellegrino, M. A., Bottinelli, R., et al. (2005) · Nature · doi:10.1038/nature04422 · Cited by 220 · see citing works

Composition and three‐dimensional EM structure of double affinity‐purified, human prespliceosomal A complexes

Behzadnia, N., Golas, M. M., Hartmuth, K., Sander, B. O., Kastner, B., Deckert, J., Dube, P., Will, C. L., Urlaub, H., Stark, H., et al. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601631 · Cited by 218 · see citing works

Transcription of Satellite III non-coding RNAs is a general stress response in human cells

Valgardsdottir, R., Chiodi, I., Giordano, M., Rossi, A., Bazzini, S., Ghigna, C., Riva, S., & Biamonti, G. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm1056 · Cited by 209 · see citing works

Overexpression of CUG Triplet Repeat-binding Protein, CUGBP1, in Mice Inhibits Myogenesis

Timchenko, N. A., Patel, R. H., Iakova, P. A., Cai, Z., Quan, L., & Timchenko, L. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m312923200 · Cited by 201 · see citing works

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severityPreprint

Cho, S., & Dreyfuss, G. (2010) · Genes & Development · doi:10.1101/gad.1884910 · Cited by 200 · see citing works

Regulation of Alternative Splicing: More than Just the ABCs

House, A. E., & Lynch, K. W. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.r700031200 · Cited by 173 · see citing works

Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1

Teplova, M., & Patel, D. J. (2008) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1519 · Cited by 170 · see citing works

Splicing of a rare class of introns by the U12-dependent spliceosome

Will, C. L., & Lührmann, R. (2005) · Biological Chemistry · doi:10.1515/bc.2005.084 · Cited by 166 · see citing works

Eukaryotic Lsm proteins: lessons from bacteria

Wilusz, C. J., & Wilusz, J. (2005) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1037 · Cited by 165 · see citing works

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

Zhao, C., Bellur, D. L., Lu, S., Zhao, F., Grassi, M. A., Bowne, S. J., Sullivan, L. S., Daiger, S. P., Chen, L. J., Pang, C. P., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.020 · Cited by 162 · see citing works

MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing

Sweeney, E. G., Purcell, J., Voelker, R. B., Gates, D. P., & Berglund, J. A. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkp1209 · Cited by 157 · see citing works

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K. K., Ambrugger, P., Reinhold, A., Morar, B., et al. (2003) · Nature Genetics · doi:10.1038/ng1243 · Cited by 149 · see citing works

LINE dancing in the human genome: transposable elements and disease

Belancio, V. P., Deininger, P. L., & Roy-Engel, A. M. (2009) · Genome Medicine · doi:10.1186/gm97 · Cited by 146 · see citing works

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

Osborne, R. J., Welle, S. L., Venance, S. L., Thornton, C. A., & Tawil, R. (2006) · Neurology · doi:10.1212/01.wnl.0000251269.31442.d9 · Cited by 145 · see citing works

Searching for Splicing Motifs

Chasin, L. A. (2007) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-77374-2_6 · Cited by 143 · see citing works

Facioscapulohumeral muscular dystrophy

Butz, M., Koch, M. C., Müller‐Felber, W., Lemmers, R. J. L. F., van der Maarel, S. M., & Schreiber, H. (2003) · Journal of Neurology · doi:10.1007/s00415-003-1116-y · Cited by 139 · see citing works

SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice

Buchner, D. A., Trudeau, M., & Meisler, M. H. (2003) · Science · doi:10.1126/science.1086187 · Cited by 137 · see citing works

Facioscapulohumeral muscular dystrophy

van der Maarel, S. M., Frants, R. R., & Padberg, G. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2006.05.009 · Cited by 137 · see citing works

Facioscapulohumeral Muscular Dystrophy

Tawil, R. (2008) · Neurotherapeutics · doi:10.1016/j.nurt.2008.07.005 · Cited by 129 · see citing works

Expression of PRPF31 mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?

Vithana, E. N., Abu‐Safieh, L., Pelosini, L., Winchester, E., Hornan, D., Bird, A. C., Hunt, D. M., Bustin, S. A., & Bhattacharya, S. S. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-0253 · Cited by 127 · see citing works

Sam68 Regulates a Set of Alternatively Spliced Exons during Neurogenesis

Chawla, G., Lin, C.-H., Han, A., Shiue, L., Ares, M., & Black, D. L. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01349-08 · Cited by 124 · see citing works

Pre-mRNA splicing and retinitis pigmentosa.

Mordes, D. A., Luo, X., Kar, A. N., Kuo, D. C., Xu, L., Fushimi, K., Yu, G., Sternberg, P., & Wu, J. Y. (2006) · PubMed · Cited by 121 · see citing works

Alternative Pre-mRNA Splicing and Neuronal Function

Black, D. L., & Grabowski, P. J. (2003) · Progress in molecular and subcellular biology · doi:10.1007/978-3-662-09728-1_7 · Cited by 114 · see citing works

Variation in retinitis pigmentosa-11 (PRPF31orRP11) gene expression between symptomatic and asymptomatic patients with dominantRP11mutations

Rivolta, C., McGee, T. L., Frio, T. R., Jensen, R. V., Berson, E. L., & Dryja, T. P. (2006) · Human Mutation · doi:10.1002/humu.20325 · Cited by 110 · see citing works

Macromolecular complexes: SMN — the master assembler

Terns, M. P., & Terns, R. M. (2001) · Current Biology · doi:10.1016/s0960-9822(01)00517-6 · Cited by 108 · see citing works

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

Frio, T. R., Wade, N. M., Ransijn, A., Berson, E. L., Beckmann, J. S., & Rivolta, C. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34211 · Cited by 105 · see citing works

Identification of Putative New Splicing Targets for ETR-3 Using Sequences Identified by Systematic Evolution of Ligands by Exponential Enrichment

Faustino, N. A., & Cooper, T. A. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.3.879-887.2005 · Cited by 103 · see citing works

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

Gurvich, O. L., Tuohy, T. M. F., Howard, M. T., Finkel, R. S., Medne, L., Anderson, C. B., Weiss, R. B., Wilton, S. D., & Flanigan, K. M. (2007) · Annals of Neurology · doi:10.1002/ana.21290 · Cited by 101 · see citing works

A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies

Zhong, X., Liu, J. R., Kyle, J. W., Hanck, D. A., & Agnew, W. S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl068 · Cited by 97 · see citing works

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Meyer, K., Marquis, J., TRUEB, J., Nlend, R. N., Verp, S., Ruepp, M., Imboden, H., Barde, I., Trono, D., & Schümperli, D. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn382 · Cited by 94 · see citing works

The role of RNP biogenesis in spinal muscular atrophy

Chari, A., Paknia, E., & Fischer, U. (2009) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2009.02.004 · Cited by 89 · see citing works

Circadian oscillation of photopigment transcript levels in the mouse retina

von Schantz, M., Lucas, R. J., & Foster, F. (1999) · Molecular Brain Research · doi:10.1016/s0169-328x(99)00209-0 · Cited by 89 · see citing works

Impairment of executive cognitive functioning in males with fragile X‐associated tremor/ataxia syndrome

Grigsby, J., Brega, A. G., Leehey, M. A., Goodrich, G. K., Jacquemont, S., Loesch, D. Z., Cogswell, J. B., Epstein, J., Wilson, R., Jardini, T., et al. (2007) · Movement Disorders · doi:10.1002/mds.21359 · Cited by 86 · see citing works

Emerging pathogenic pathways in the spinocerebellar ataxias

Carlson, K. M., Andresen, J. M., & Orr, H. T. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.02.009 · Cited by 84 · see citing works

Structural basis for the sequence-specific RNA-recognition mechanism of human CUG-BP1 RRM3

Tsuda, K., Kuwasako, K., Takahashi, M., Someya, T., Inoue, M., Terada, T., Kobayashi, N., Shirouzu, M., Kigawa, T., Tanaka, A., et al. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp546 · Cited by 79 · see citing works

Fibroblast phenotype in male carriers of FMR1 premutation alleles

Garcia-Arocena, D., Yang, J. E., Brouwer, J. R., Tassone, F., Iwahashi, C., Berry‐Kravis, E., Goetz, C. G., Sumis, A. M., Zhou, L., Nguyen, D. V., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp497 · Cited by 76 · see citing works

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

Maita, H., Kitaura, H., Keen, T. J., Inglehearn, C. F., Ariga, H., & Iguchi‐Ariga, S. M. M. (2004) · Experimental Cell Research · doi:10.1016/j.yexcr.2004.07.029 · Cited by 73 · see citing works

Insights into the mechanisms of splicing: more lessons from the ribosome: Figure 1.Preprint

Konarska, M. M., & Query, C. C. (2005) · Genes & Development · doi:10.1101/gad.1363105 · Cited by 70 · see citing works

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

Klooster, R., Straasheijm, K. R., Shah, B., Sowden, J. E., Frants, R. R., Thornton, C. A., Tawil, R., & van der Maarel, S. M. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.62 · Cited by 63 · see citing works

Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

Bosnakovski, D., Daughters, R. S., Xu, Z., Slack, J. M. W., & Kyba, M. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007003 · Cited by 63 · see citing works

Fragile X-associated tremor/ataxia syndrome—an older face of the fragile X gene

Hagerman, P. J., & Hagerman, R. J. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0373 · Cited by 60 · see citing works

Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)

Bujakowska, K. M., Maubaret, C. G., Chakarova, C. F., Tanimoto, N., Beck, S. C., Fahl, E., Humphries, M. M., Kenna, P. F., Makarov, E. M., Makarova, O. V., et al. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-3275 · Cited by 59 · see citing works

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

Baralle, M., Pastor, T., Bussani, E., & Pagani, F. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.018 · Cited by 51 · see citing works

Motor coordination defects in mice deficient for the Sam68 RNA-binding protein

Lukong, K. E., & Richard, S. (2008) · Behavioural Brain Research · doi:10.1016/j.bbr.2008.01.010 · Cited by 48 · see citing works

Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex

Maita, H., Kitaura, H., Ariga, H., & Iguchi‐Ariga, S. M. M. (2004) · Experimental Cell Research · doi:10.1016/j.yexcr.2004.08.022 · Cited by 45 · see citing works

Mutations in ASCC3L1 on 2q11.2 Are Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Li, N., Han, M. L. K., MacDonald, I. M., Jiao, X., & Hejtmancik, J. F. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-3725 · Cited by 39 · see citing works

Therapy development in spinal muscular atrophy

Sendtner, M. (2010) · Nature Neuroscience · doi:10.1038/nn.2565 · Cited by 33 · see citing works

Where in the cell is the minor spliceosome?

STEITZ, J. A., Dreyfuss, G., Krainer, A. R., Lamond, A. I., Matera, A. G., & Padgett, R. A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804024105 · Cited by 30 · see citing works

Splicing therapeutics in SMN2 and APOB.

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Alternative Splicing for Diseases, Cancers, Drugs, and Databases

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Global insights into alternative polyadenylation regulation

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Identification of neoantigens derived from alternative splicing and RNA modification

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RNA-Binding Protein Misregulation in Microsatellite Expansion Disorders

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XAB2 depletion induces intron retention in POLR2A to impair global transcription and promote cellular senescence

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The impact of biological sex on alternative splicingPreprint

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Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes

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Alternative Pre-mRNA Splicing

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The SR-protein Npl3 is an essential component of the meiotic splicing regulatory network in Saccharomyces cerevisiae

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Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting

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A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1

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Combination of valproic acid and morpholino splice-switching oligonucleotide produces improved outcomes in spinal muscular atrophy patient-derived fibroblasts

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RNA splicing: a dual-edged sword for hepatocellular carcinoma

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Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases

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Post‐Transcriptional Regulation of Gene Expression and the Intricate Life of Eukaryotic mRNAs

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Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant

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Dysregulation of the TCF4 Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal Dystrophy

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Alternative splicing: An important regulatory mechanism in colorectal carcinoma

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Alternative splicing regulation: Implications in cancer diagnosis and treatment

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Bioinformatics Approaches for Studying Alternative Splicing

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Bioinformatics and Translation Elongation

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Open reading frame mining identifies a TLR4 binding domain in the primary sequence of ECRG4

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The MBNL/CELF Splicing Factors Regulate Cytosolic Sulfotransferase 4A1 Protein Expression during Cell Differentiation

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Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila

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Tracing the molecular basis of transcriptional dynamics in noisy data by using an experiment-based mathematical model

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Distance-Based Phylogenetic Methods

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Modified mRNA-Based Therapeutic Strategies for Myocardial Ischemia–Reperfusion Injury

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FUNCTIONAL UNDERSTANDING OF THE DIVERSE EXON–INTRON STRUCTURES OF HUMAN GPCR GENES

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Global Approaches to Alternative Splicing and Its Regulation—Recent Advances and Open Questions

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Nucleotide Substitution Models and Evolutionary Distances

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Transcriptomic profiling to unravel the underlying causes of early gonadal development of hilsa (Tenualosa ilisha) in Bangladesh

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Identification of the microglia-associated signature in experimental autoimmune encephalomyelitis

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Laminin N‐terminus α31 expression during development is lethal and causes widespread tissue‐specific defects in a transgenic mouse model

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Putting Humpty–Dumpty Together

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Bioinformatics and Translation Initiation

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Presence of an isoform of H+-pyrophosphatase located in the alveolar sacs of a scuticociliate parasite of turbot: physiological consequences

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Protein Isoelectric Point and Helicobacter pylori

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U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review

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Rectifying RNA splicing errors in hereditary neurodegenerative disease

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String Mathematics, BLAST, and FASTA

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Investigating Alternative Splicing and Polyadenylation of the Interleukin 7 Receptor (IL7R) Exon 6: Implications for Multiple Sclerosis

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Sex-Specific Transcript Diversity in the Fly Head Is Established during Pupal Stages and Adulthood and Is Largely Independent of the Mating Process and the Germline

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Identification and analysis of short indels inducing exon extension/shrinkage events

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Fundamentals of Proteomics

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Evolutionary Connections between Coding and Splicing Regulatory Regions in the Fibronectin EDA Exon

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Three distinct velocities of elongating RNA polymerase define exons and intronsPreprint

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Mutations in the Drosophila splicing regulator Prp31 as a model for Retinitis pigmentosa 11Preprint

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The splicing regulator Prp31 prevents retinal degeneration in Drosophila by regulating Rhodopsin levelsPreprint

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Developing Modified Peptide Nucleic Acids to Regulate Dysregulated Splicing

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Choosing representative proteins based on splicing structure similarity improves the accuracy of gene tree reconstructionPreprint

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COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA

Salman, B., Yücesan, E., Samancı, B., Bılgıç, B., Hanagasi, H. A., Gürvit, İ., Özbek, U., & İşerı̇, S. A. U. (2021) · Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi · doi:10.26650/iuitfd.2021.913346

Étude de la fonction des protéines MBNL au cours du développement à l’aide de cellules souches humaines induites à la pluripotence

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BLAST, FASTA, and String Algorithms

Xia, X. (2026) · Springer eBooks · doi:10.1007/978-3-032-18842-7_1

Modulation of splicing factors SF3B1 and SRSF1 by polypurine reverse Hoogsteen hairpins affects the splicing pattern of estrogen receptor α in breast cancer cells

López-Aguilar, E., Cullell, J., Delgado, A., Monserrat, L., Serra, V., Ciudad, C. J., & Noé, V. (2026) · Cancer Cell International · doi:10.1186/s12935-026-04362-8

Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy

Sipple, M. T., Hamazaki, S. A., Todorow, V., Cisco, L. A., Lupia, K. M., Heil, C. S., Meinke, P., Thornton, C. A., & Lueck, J. D. (2026) · Nature Communications · doi:10.1038/s41467-026-75243-x

From Omics Data to Biological Context: The CURIE AI Engine. Illustrated with the Transcriptomic Response to Bacterial PneumoniaPreprint

Castellani, G., Rodríguez-Mena, A., Tarragó-Claramunt, X., Mardanás-Gómez, V., Torres-Favier, Y., Méndez, J., & Monleón-Getino, T. (2026) · medRxiv · doi:10.64898/2026.10.19.26365885

The role of hnRNP H in the splicing response to genotoxic stress

Stein, C. B. (2015) · D-Scholarship@Pitt (University of Pittsburgh)

Splicing of Pre ‐ m RNA

Lu, Y., & Tarn, W. (2010) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0005037.pub2 · Cited by 2 · see citing works

RNA processing and human disease

Philips, A. V., & Cooper*, T. A. (2000) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000687 · Cited by 134 · see citing works

Alternative Splicing in the Nervous System

Wu, J. Y., & Potashkin, J. A. (2009) · Elsevier eBooks · doi:10.1016/b978-008045046-9.00172-8 · Cited by 3 · see citing works

RNA mis-splicing in disease

Scotti, M. M., & Swanson, M. S. (2015) · Nature Reviews Genetics · doi:10.1038/nrg.2015.3 · Cited by 1,130 · see citing works

Pre-mRNA Splicing: Function and Dysfunction

Case, A., Sawyer, I. A., Dundr, M., & Hastings, M. L. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-394447-4.10053-7 · Cited by 3 · see citing works