Experts and Doctors on rna splicing in United States


Locale: United States
Topic: rna splicing

Top Publications

  1. Wanner L, Li G, Ware D, Somssich I, Davis K. The phenylalanine ammonia-lyase gene family in Arabidopsis thaliana. Plant Mol Biol. 1995;27:327-38 pubmed
    ..thaliana PAL1 and PAL2, as well as motifs described in other genes involved in phenylpropanoid metabolism. A. thaliana PAL3 was expressed at very low levels under the conditions examined. ..
  2. Whitney M, Saito H, Jakobs P, Gibson R, Moses R, Grompe M. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet. 1993;4:202-5 pubmed
    ..Three additional Jewish patients bearing this allele were found upon screening 21 other families. We conclude that a common mutation in FACC accounts for the majority of Fanconi anaemia in Ashkenazi-Jewish families. ..
  3. Ostersetzer O, Cooke A, Watkins K, Barkan A. CRS1, a chloroplast group II intron splicing factor, promotes intron folding through specific interactions with two intron domains. Plant Cell. 2005;17:241-55 pubmed
    ..We conclude that CRS1 promotes the folding of its group II intron target through tight and specific interactions with two peripheral intron segments. ..
  4. Alexander R, Baum D, Testa S. 5' transcript replacement in vitro catalyzed by a group I intron-derived ribozyme. Biochemistry. 2005;44:7796-804 pubmed
  5. Watkins K, Kroeger T, Cooke A, Williams Carrier R, Friso G, Belcher S, et al. A ribonuclease III domain protein functions in group II intron splicing in maize chloroplasts. Plant Cell. 2007;19:2606-23 pubmed
    ..These results suggest that RNC1 is recruited to specific introns via protein-protein interactions and that its role in splicing involves RNA binding but not RNA cleavage activity. ..
  6. Gladman J, Bebee T, Edwards C, Wang X, Sahenk Z, Rich M, et al. A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet. 2010;19:4239-52 pubmed publisher
    ..This Smn C>T mouse represents a new model for an adult onset form of SMA (type III/IV) also know as the Kugelberg-Welander disease. ..
  7. Anji A, Kumari M. Guardian of Genetic Messenger-RNA-Binding Proteins. Biomolecules. 2016;6:4 pubmed publisher
    ..We further discuss the conventional methods and newer techniques that are employed to identify RNA-binding proteins. ..
  8. Salz H, Flickinger T. Both loss-of-function and gain-of-function mutations in snf define a role for snRNP proteins in regulating Sex-lethal pre-mRNA splicing in Drosophila development. Genetics. 1996;144:95-108 pubmed
    ..Based on these studies we suggest a model in which the snRNP protein, Snf, functions with Sex-lethal to block recognition of the regulated male-specific exon. ..
  9. Bruce S, Kaetzel C, Peterson M. Cryptic intron activation within the large exon of the mouse polymeric immunoglobulin receptor gene: cryptic splice sites correspond to protein domain boundaries. Nucleic Acids Res. 1999;27:3446-54 pubmed
    ..The cryptic 5' splice site is located between protein subdomains where an intron is found in another gene of the immunoglobulin superfamily. ..

More Information

Publications253 found, 100 shown here

  1. Zimowska G, Shi J, Munguba G, Jackson M, Alpatov R, Simmons M, et al. Pinin/DRS/memA interacts with SRp75, SRm300 and SRrp130 in corneal epithelial cells. Invest Ophthalmol Vis Sci. 2003;44:4715-23 pubmed
    ..The results suggest that Pnn and SR-rich proteins may be part of a multiprotein complex within the nucleus and may be involved in pre-mRNA processing. ..
  2. Cass D, Berglund J. The SF3b155 N-terminal domain is a scaffold important for splicing. Biochemistry. 2006;45:10092-101 pubmed
    ..The multiple U2AF65 binding sites on SF3b155 suggest a model in which multiple U2AF65 molecules bound to the intron could enhance U2 snRNP recruitment to the branch point sequence. ..
  3. Vaidya N, Lehman N. One RNA plays three roles to provide catalytic activity to a group I intron lacking an endogenous internal guide sequence. Nucleic Acids Res. 2009;37:3981-9 pubmed publisher
    ..This property of RNA to be multifunctional in a single reaction pathway bolsters the probability that a system of self-replicating molecules could have existed in an RNA world during the origins of life on the Earth...
  4. Kwok C, Ding Y, Tang Y, Assmann S, Bevilacqua P. Determination of in vivo RNA structure in low-abundance transcripts. Nat Commun. 2013;4:2971 pubmed publisher
    ..Our universally applicable method opens the door to identifying and exploring the specific structure-function relationships of the multitude of low-abundance RNAs that prevail in living cells. ..
  5. Kapplinger J, Erickson A, Asuri S, Tester D, McIntosh S, Kerr C, et al. KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. J Med Genet. 2017;54:390-398 pubmed publisher
    ..Through this mechanism, we identified that p.L353L can precipitate QT prolongation by itself and produce a clinically relevant interactive effect in conjunction with other LQTS variants. ..
  6. Delgadillo Reynoso M, Rollo D, Hursh D, Raff R. Structural analysis of the uEGF gene in the sea urchin strongylocentrotus purpuratus reveals more similarity to vertebrate than to invertebrate genes with EGF-like repeats. J Mol Evol. 1989;29:314-27 pubmed
    ..Thus, an alternative molecular datum is provided to support the hypothesis of echinoderm-chordate relationships. ..
  7. Baumbach W, Horner D, Logan J. The growth hormone-binding protein in rat serum is an alternatively spliced form of the rat growth hormone receptor. Genes Dev. 1989;3:1199-205 pubmed
    ..These results suggest that the mechanism for production of the rat serum GH-binding protein is by alternative splicing of the gene for the rat GH receptor. ..
  8. Flickinger T, Salz H. The Drosophila sex determination gene snf encodes a nuclear protein with sequence and functional similarity to the mammalian U1A snRNP protein. Genes Dev. 1994;8:914-25 pubmed
    ..These studies provide the first demonstration, in a multicellular organism, that mutations in a U1 snRNP protein alter splicing in vivo. ..
  9. Ash J, Ke Y, Korb M, Johnson L. Introns are essential for growth-regulated expression of the mouse thymidylate synthase gene. Mol Cell Biol. 1993;13:1565-71 pubmed
    ..These sequences appear to be associated with sequences that are important for splicing and to function in cooperation with upstream regulatory elements to bring about normal S-phase-specific expression. ..
  10. Bailin T, Lee S, Spritz R. Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. J Invest Dermatol. 1996;106:24-7 pubmed
    ..D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci. ..
  11. Maroney P, Romfo C, Nilsen T. Functional recognition of 5' splice site by U4/U6.U5 tri-snRNP defines a novel ATP-dependent step in early spliceosome assembly. Mol Cell. 2000;6:317-28 pubmed
    ..We propose that U1 and U5 snRNPs functionally collaborate to recognize and define the 5' splice site prior to establishment of communication with the 3' splice site. ..
  12. Furuyama S, Bruzik J. Multiple roles for SR proteins in trans splicing. Mol Cell Biol. 2002;22:5337-46 pubmed
  13. Rovnak J, Quackenbush S. Walleye dermal sarcoma virus cyclin interacts with components of the mediator complex and the RNA polymerase II holoenzyme. J Virol. 2002;76:8031-9 pubmed
    ..These data suggest that WDSV OrfA functions through its interactions with these large, transcription complexes. Further investigations will clarify the role of the retrovirus cyclin in control of virus expression and transformation...
  14. Kanadia R, Johnstone K, Mankodi A, Lungu C, Thornton C, Esson D, et al. A muscleblind knockout model for myotonic dystrophy. Science. 2003;302:1978-80 pubmed
    ..Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNA binding proteins by a repetitive element expansion in a mutant RNA. ..
  15. Swaminathan S. Post-transcriptional gene regulation by gamma herpesviruses. J Cell Biochem. 2005;95:698-711 pubmed
  16. Schmitz Linneweber C, Williams Carrier R, Williams Voelker P, Kroeger T, Vichas A, Barkan A. A pentatricopeptide repeat protein facilitates the trans-splicing of the maize chloroplast rps12 pre-mRNA. Plant Cell. 2006;18:2650-63 pubmed
    ..These findings add trans-splicing to the list of RNA-related functions associated with PPR proteins and suggest that plastid group II trans-splicing is performed by different machineries in vascular plants and algae. ..
  17. Bifano A, Caprara M. A DExH/D-box protein coordinates the two steps of splicing in a group I intron. J Mol Biol. 2008;383:667-82 pubmed publisher
  18. Zou Z, Picheng Z, Weng H, Mita K, Jiang H. A comparative analysis of serpin genes in the silkworm genome. Genomics. 2009;93:367-75 pubmed publisher
    ..These results suggest that the silkworm serpins play regulatory roles in defense responses. ..
  19. Sun S, Sprenger C, Vessella R, Haugk K, Soriano K, Mostaghel E, et al. Castration resistance in human prostate cancer is conferred by a frequently occurring androgen receptor splice variant. J Clin Invest. 2010;120:2715-30 pubmed publisher
  20. Jaag H, Nagy P. The combined effect of environmental and host factors on the emergence of viral RNA recombinants. PLoS Pathog. 2010;6:e1001156 pubmed publisher
    ..Thus, host factors in combination with environmental factors likely affect virus evolution and adaptation...
  21. Barrie E, Smith R, Sanford J, Sadee W. mRNA transcript diversity creates new opportunities for pharmacological intervention. Mol Pharmacol. 2012;81:620-30 pubmed publisher
    ..Consideration of a gene's transcript diversity should become an integral part of drug design, development, and therapy. ..
  22. Desai K, Cheng C, Bingman C, Phillips G, Raines R. A tRNA splicing operon: Archease endows RtcB with dual GTP/ATP cofactor specificity and accelerates RNA ligation. Nucleic Acids Res. 2014;42:3931-42 pubmed publisher
    ..Substitution of the Archease metal-binding residues drastically reduced Archease-dependent activation of RtcB. Thus, evolution has sought to co-express archease and rtcB by creating a tRNA splicing operon. ..
  23. Doege K, Sasaki M, Kimura T, Yamada Y. Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. J Biol Chem. 1991;266:894-902 pubmed
  24. Cherniack A, Garriga G, Kittle J, Akins R, Lambowitz A. Function of Neurospora mitochondrial tyrosyl-tRNA synthetase in RNA splicing requires an idiosyncratic domain not found in other synthetases. Cell. 1990;62:745-55 pubmed
  25. Albrecht E, Salz H. The Drosophila sex determination gene snf is utilized for the establishment of the female-specific splicing pattern of Sex-lethal. Genetics. 1993;134:801-7 pubmed
    ..Whether snf influences the female-specific splice site choice directly or indirectly remains to be determined. ..
  26. Mortillaro M, Berezney R. Matrin CYP, an SR-rich cyclophilin that associates with the nuclear matrix and splicing factors. J Biol Chem. 1998;273:8183-92 pubmed
    ..Although total rat liver nuclei contains predominantly CsA-resistant PPIase activity, the corresponding activity in the nuclear matrix is largely CsA-sensitive. ..
  27. Chen J, Stands L, Staley J, Jackups R, Latus L, Chang T. Specific alterations of U1-C protein or U1 small nuclear RNA can eliminate the requirement of Prp28p, an essential DEAD box splicing factor. Mol Cell. 2001;7:227-32 pubmed
    ..Thus, in addition to unwinding RNA, the DExD/H box proteins may affect RNA-RNA rearrangements by antagonizing specific RNA-stabilizing proteins. ..
  28. Singh N, Lambowitz A. Interaction of a group II intron ribonucleoprotein endonuclease with its DNA target site investigated by DNA footprinting and modification interference. J Mol Biol. 2001;309:361-86 pubmed
    ..Our results provide the first detailed view of the interaction of a group II intron endonuclease with its DNA target site. ..
  29. Webb C, Romfo C, van Heeckeren W, Wise J. Exonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin. Genes Dev. 2005;19:242-54 pubmed
    ..pombe that promote splicing of our reporter pre-mRNAs. Taken together, these results provide strong evidence that the genesis of ESE-mediated splicing occurred early in eukaryotic evolution. ..
  30. Chaouki A, Salz H. Drosophila SPF45: a bifunctional protein with roles in both splicing and DNA repair. PLoS Genet. 2006;2:e178 pubmed
  31. Bebee T, Gladman J, Chandler D. Splicing of the Survival Motor Neuron genes and implications for treatment of SMA. Front Biosci (Landmark Ed). 2010;15:1191-1204 pubmed
    ..As therapeutics targeted toward correction of SMN2 splicing continue to be developed available SMA mouse models can be utilized in validating their potential in disease treatment. ..
  32. GUNZL A. The pre-mRNA splicing machinery of trypanosomes: complex or simplified?. Eukaryot Cell. 2010;9:1159-70 pubmed publisher
    ..In addition, recent findings about functional differences between trypanosome and human pre-mRNA splicing factors are discussed. ..
  33. Yagi H, Yanagisawa M, Suzuki Y, Nakatani Y, Ariga T, Kato K, et al. HNK-1 epitope-carrying tenascin-C spliced variant regulates the proliferation of mouse embryonic neural stem cells. J Biol Chem. 2010;285:37293-301 pubmed publisher
    ..Our finding provides insights into the function of HNK-1 carbohydrate epitopes in NSCs to maintain stemness during neural development. ..
  34. Gates D, Coonrod L, Berglund J. Autoregulated splicing of muscleblind-like 1 (MBNL1) Pre-mRNA. J Biol Chem. 2011;286:34224-33 pubmed publisher
    ..Deletion of the MBNL1 response element eliminated MBNL1 splicing regulation and led to complete inclusion of exon 5, which is consistent with the suppressive effect of MBNL1 on splicing. ..
  35. Porensky P, Mitrpant C, McGovern V, Bevan A, Foust K, Kaspar B, et al. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet. 2012;21:1625-38 pubmed publisher
    ..Finally, the early introduction by intrathecal delivery of MO oligomers is a potential treatment for SMA patients. ..
  36. Padgett R. New connections between splicing and human disease. Trends Genet. 2012;28:147-54 pubmed publisher
    ..Mis-splicing of crucial genes may underlie the pathologies of all of these diseases. Identifying these genes and understanding the mechanisms involved in their mis-splicing may lead to advancements in diagnosis and treatment. ..
  37. Neve J, Burger K, Li W, Hoque M, Patel R, Tian B, et al. Subcellular RNA profiling links splicing and nuclear DICER1 to alternative cleavage and polyadenylation. Genome Res. 2016;26:24-35 pubmed publisher
  38. MacDonald P, Francy C, Stepanyants N, Lehman L, Baglio A, Mears J, et al. Distinct Splice Variants of Dynamin-related Protein 1 Differentially Utilize Mitochondrial Fission Factor as an Effector of Cooperative GTPase Activity. J Biol Chem. 2016;291:493-507 pubmed publisher
    ..Thus, membrane-anchored Mff differentially regulates various Drp1 isoforms by functioning as an allosteric effector of cooperative GTPase activity. ..
  39. Ruehle S, Wager Miller J, Straiker A, Farnsworth J, Murphy M, Loch S, et al. Discovery and characterization of two novel CB1 receptor splice variants with modified N-termini in mouse. J Neurochem. 2017;142:521-533 pubmed publisher
    ..Identification of mouse CB1 receptor splice variants may help to explain differences found between human and mouse endocannabinoid systems and improve the understanding of CB1 receptor signaling and trafficking in different species. ..
  40. Giebel L, Strunk K, Holmes S, Spritz R. Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Oncogene. 1992;7:2207-17 pubmed
    ..Together, these data suggest that the KIT and PDGFRA genes on chromosome 4 and the FMS and PDGFRB genes on chromosome 5 arose by duplication of a common ancestral gene, followed by duplication of a chromosome. ..
  41. Huang N, Cogburn L, Agarwal S, Marks H, Burnside J. Overexpression of a truncated growth hormone receptor in the sex-linked dwarf chicken: evidence for a splice mutation. Mol Endocrinol. 1993;7:1391-8 pubmed
    ..A cDNA clone encoding this transcript has been isolated from a liver library prepared from a normal chicken.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  42. Wang L, Mukhopadhyay D, Xu X. C terminus of RGS-GAIP-interacting protein conveys neuropilin-1-mediated signaling during angiogenesis. FASEB J. 2006;20:1513-5 pubmed
    ..Taken together, our data suggest a novel role of GIPC in angiogenesis and vessel formation and also support our hypothesis that NRP-1 can facilitate downstream signaling to promote angiogenesis through GIPC. ..
  43. Luz Ambrósio D, Lee J, Panigrahi A, Nguyen T, Cicarelli R, GUNZL A. Spliceosomal proteomics in Trypanosoma brucei reveal new RNA splicing factors. Eukaryot Cell. 2009;8:990-1000 pubmed publisher
    ..Together, these data strongly indicate that most of the identified proteins are components of the spliceosome. ..
  44. Warf M, Berglund J. Role of RNA structure in regulating pre-mRNA splicing. Trends Biochem Sci. 2010;35:169-78 pubmed publisher
    ..Recent reports have identified proteins and small molecules that can regulate splicing by modulating RNA structures, thereby expanding our knowledge of the mechanisms used to regulate splicing. ..
  45. Snider L, Geng L, Lemmers R, Kyba M, Ware C, Nelson A, et al. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010;6:e1001181 pubmed publisher
    ..Therefore, FSHD represents the first human disease to be associated with the incomplete developmental silencing of a retrogene array normally expressed early in development. ..
  46. Graham P, Yanowitz J, Penn J, Deshpande G, Schedl P. The translation initiation factor eIF4E regulates the sex-specific expression of the master switch gene Sxl in Drosophila melanogaster. PLoS Genet. 2011;7:e1002185 pubmed publisher
  47. Quan F, Forte M. Two forms of Drosophila melanogaster Gs alpha are produced by alternate splicing involving an unusual splice site. Mol Cell Biol. 1990;10:910-7 pubmed
    ..Additional Gs alpha transcript heterogeneity reflects the use of multiple polyadenylation sites. ..
  48. Maroney P, Hannon G, Denker J, Nilsen T. The nematode spliced leader RNA participates in trans-splicing as an Sm snRNP. EMBO J. 1990;9:3667-73 pubmed
    ..Mutations within the Sm binding sequence that prevent immunoprecipitation by Sm antisera and prevent cap trimethylation abolish trans-splicing. The effect on trans-splicing is not due to undermethylation of the cap structure. ..
  49. Belgrader P, Maquat L. Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol Cell Biol. 1994;14:6326-36 pubmed
    ..This suggests that a 5' splice site may extend as far as 12 nucleotides into the upstream exon, which is, to our knowledge, the largest extension. ..
  50. Horowitz D, Abelson J. Stages in the second reaction of pre-mRNA splicing: the final step is ATP independent. Genes Dev. 1993;7:320-9 pubmed
    ..The ATP independence also supports the idea that this reaction proceeds by a transesterification mechanism. ..
  51. McLean M, Rymond B. Yeast pre-mRNA splicing requires a pair of U1 snRNP-associated tetratricopeptide repeat proteins. Mol Cell Biol. 1998;18:353-60 pubmed
    ..The evidence shows that Prp39p and Prp42p are both required to configure the atypical yeast U1 snRNP into a structure compatible with its evolutionarily conserved role in pre-mRNA splicing. ..
  52. Boris Lawrie K, Roberts T, Hull S. Retroviral RNA elements integrate components of post-transcriptional gene expression. Life Sci. 2001;69:2697-709 pubmed
    ..Further characterization of the cellular partners and their regulation will be an important step to full understanding of nuclear-cytoplasmic connections that hardwire post-transcriptional gene expression in eukaryotic cells. ..
  53. Hobson G, Huang Z, Sperle K, Stabley D, Marks H, Cambi F. A PLP splicing abnormality is associated with an unusual presentation of PMD. Ann Neurol. 2002;52:477-88 pubmed
    ..These data support the conclusion that deletion of the 19bp purine-rich region in PLP intron 3 causes a reduction in PLP message and protein, which affects myelin stability and axonal integrity. ..
  54. Muresan Z, Muresan V. A phosphorylated, carboxy-terminal fragment of beta-amyloid precursor protein localizes to the splicing factor compartment. Hum Mol Genet. 2004;13:475-88 pubmed
    ..These results suggest that phosphorylated Cgamma accumulates at the SFC. Thus, APP may play a role in pre-mRNA splicing, and Fe65 and APP phosphorylation may regulate this function. ..
  55. Graveley B. A protein interaction domain contacts RNA in the prespliceosome. Mol Cell. 2004;13:302-4 pubmed
    ..In this issue of Molecular Cell, demonstrate that the RS domain of SR proteins contacts the pre-mRNA branchpoint, indicating that these domains participate in both protein and RNA interactions. ..
  56. Kuersten S, Goodwin E. Linking nuclear mRNP assembly and cytoplasmic destiny. Biol Cell. 2005;97:469-78 pubmed
    ..Due to space limitations this review is not comprehensive, instead we focus on specific examples to illustrate these emerging themes in gene expression. ..
  57. Wang Q, Zhang L, Lynn B, Rymond B. A BBP-Mud2p heterodimer mediates branchpoint recognition and influences splicing substrate abundance in budding yeast. Nucleic Acids Res. 2008;36:2787-98 pubmed publisher
    ..In addition, our results suggest the possibility that the Mud2p may enhance the turnover of pre-mRNA with impaired BBP-branchpoint association. ..
  58. Zhang Z, Kelemen O, van Santen M, Yelton S, Wendlandt A, Sviripa V, et al. Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA. J Biol Chem. 2011;286:10126-36 pubmed publisher
    ..Our data show that subtle changes in similar compounds can turn a phosphatase inhibitor into an activator. These chemically related compounds influence alternative splicing by distinct mechanisms. ..
  59. Utz V, Beight C, Marino M, Hagstrom S, Traboulsi E. Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion. Ophthalmic Genet. 2013;34:183-8 pubmed publisher
    ..The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene...
  60. Porensky P, Burghes A. Antisense oligonucleotides for the treatment of spinal muscular atrophy. Hum Gene Ther. 2013;24:489-98 pubmed publisher
    ..ASOs targeted to these splice motifs have shown impressive phenotype rescue in multiple SMA mouse models. ..
  61. Hubert C, Bradley R, Ding Y, Toledo C, Herman J, Skutt Kakaria K, et al. Genome-wide RNAi screens in human brain tumor isolates reveal a novel viability requirement for PHF5A. Genes Dev. 2013;27:1032-45 pubmed publisher
    ..Our results demonstrate a novel viability requirement for PHF5A to maintain proper exon recognition in brain tumor-initiating cells and may provide new inroads for novel anti-GBM therapeutic strategies. ..
  62. Reenan R, Hanrahan C, Ganetzky B. The mle(napts) RNA helicase mutation in drosophila results in a splicing catastrophe of the para Na+ channel transcript in a region of RNA editing. Neuron. 2000;25:139-49 pubmed
    ..These results explain how mlen(napts) affects Na+ channel expression and provide new insights into the mechanism of RNA editing...
  63. Husain A, Zhang X, Doll M, States J, Barker D, Hein D. Identification of N-acetyltransferase 2 (NAT2) transcription start sites and quantitation of NAT2-specific mRNA in human tissues. Drug Metab Dispos. 2007;35:721-7 pubmed
    ..NAT2 expression in diverse human tissues provides further mechanistic support underlying associations between NAT2 genetic polymorphism, drug toxicity, and/or chemical carcinogenesis. ..
  64. Cribbs D, Pattatucci A, Pultz M, Kaufman T. Ectopic expression of the Drosophila homeotic gene proboscipedia under Antennapedia P1 control causes dominant thoracic defects. Genetics. 1992;132:699-711 pubmed
  65. Miller C, Embretson J, Temin H. Transforming viruses spontaneously arise from nontransforming reticuloendotheliosis virus strain T-derived viruses as a result of increased accumulation of spliced viral RNA. J Virol. 1988;62:1219-26 pubmed
    ..These differences resulted in the accumulation of increased levels of subgenomic v-rel mRNA and protein, ultimately leading to transformation. ..
  66. Clark M, Goelz S, Abelson J. Electron microscopic identification of the yeast spliceosome. EMBO J. 1988;7:3829-36 pubmed
    ..These tagged spliceosomes were then identified in the electron microscope. The salt dependent shift of sedimentation rate for the spliceosome can be explained by a change in size of the particle. ..
  67. Bruzik J, Maniatis T. Enhancer-dependent interaction between 5' and 3' splice sites in trans. Proc Natl Acad Sci U S A. 1995;92:7056-9 pubmed
    ..These same interactions are likely to play a crucial role in alternative splicing and splice-site selection in cis. ..
  68. Ke Y, Ash J, Johnson L. Splicing signals are required for S-phase regulation of the mouse thymidylate synthase gene. Mol Cell Biol. 1996;16:376-83 pubmed
    ..Possible mechanisms to account for the dual requirement for the TS promoter and intron splicing for proper regulation of the TS gene are discussed. ..
  69. Chang T, Latus L, Liu Z, Abbott J. Genetic interactions of conserved regions in the DEAD-box protein Prp28p. Nucleic Acids Res. 1997;25:5033-40 pubmed
    ..Our results thus provide the first hint of the local structural arrangement for Prp28p, and perhaps for other DBPs as well. ..
  70. Fautsch M, Vrabel A, Subramaniam M, Hefferen T, Spelsberg T, Wieben E. TGFbeta-inducible early gene (TIEG) also codes for early growth response alpha (EGRalpha): evidence of multiple transcripts from alternate promoters. Genomics. 1998;51:408-16 pubmed
    ..Northern analysis of mRNA from various human tissues and several cell lines reveals that TIEG is the predominant transcript produced and regulated by growth factors from the TIEG/EGRalpha gene. ..
  71. Wang C, Davoodi Semiromi A, Huang W, Connor E, Shi J, She J. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum Genet. 1998;103:681-5 pubmed
    ..A nonsense mutation (R257X) in exon 6 was also found in 31.3% (5/16) of the USA patients. These data are important for genetic diagnosis and counseling for families with autoimmune endocrine syndromes. ..
  72. Banks J, Kealoha B, Linial M. An Mpsi-containing heterologous RNA, but not env mRNA, is efficiently packaged into avian retroviral particles. J Virol. 1999;73:8926-33 pubmed
    ..Finally, deletion of sequences from the 3' end of MPsi was found to reduce the packaging efficiency of heterologous RNAs. ..
  73. Huang C, Zhan L, Hannigan M, Ai Y, Leto T. P47(phox)-deficient NADPH oxidase defect in neutrophils of diabetic mouse strains, C57BL/6J-m db/db and db/+. J Leukoc Biol. 2000;67:210-5 pubmed
    ..These results indicate that the C57BL/6J-m db/db and db/+ mice are the first spontaneously derived murine model of NADPH oxidase deficiency involving a p47(phox) mutation. ..
  74. Webb C, Wise J. The splicing factor U2AF small subunit is functionally conserved between fission yeast and humans. Mol Cell Biol. 2004;24:4229-40 pubmed
    ..In addition to demonstrating extraordinary conservation of U2AF small-subunit function, these results provide new insights into the roles of individual domains and residues. ..
  75. Zhao R, Shen J, Green M, MacMorris M, Blumenthal T. Crystal structure of UAP56, a DExD/H-box protein involved in pre-mRNA splicing and mRNA export. Structure. 2004;12:1373-81 pubmed
    ..The crystal structure of the N-terminal domain of UAP56 also reveals a dimer interface that is potentially important for UAP56's function. ..
  76. Kreahling J, Graveley B. The iStem, a long-range RNA secondary structure element required for efficient exon inclusion in the Drosophila Dscam pre-mRNA. Mol Cell Biol. 2005;25:10251-60 pubmed
    ..Thus, the iStem is a novel type of regulatory element that simultaneously controls the splicing of multiple alternative exons. ..
  77. Combs D, Nagel R, Ares M, Stevens S. Prp43p is a DEAH-box spliceosome disassembly factor essential for ribosome biogenesis. Mol Cell Biol. 2006;26:523-34 pubmed
    ..Its essential function is in its newly characterized role in ribosome biogenesis of both ribosomal subunits, positioning Prp43p to regulate both pre-mRNA splicing and ribosome biogenesis. ..
  78. Haberzettl P, Vladykovskaya E, Srivastava S, Bhatnagar A. Role of endoplasmic reticulum stress in acrolein-induced endothelial activation. Toxicol Appl Pharmacol. 2009;234:14-24 pubmed publisher
    ..Chemical chaperones of protein-folding may be useful in treating toxicological and pathological states associated with excessive acrolein exposure or production. ..
  79. Luo N, Liu J, Chung B, Yang Q, Klein R, Garvey W, et al. Macrophage adiponectin expression improves insulin sensitivity and protects against inflammation and atherosclerosis. Diabetes. 2010;59:791-9 pubmed publisher
  80. Phizicky E, Hopper A. tRNA biology charges to the front. Genes Dev. 2010;24:1832-60 pubmed publisher
  81. Karn J, Stoltzfus C. Transcriptional and posttranscriptional regulation of HIV-1 gene expression. Cold Spring Harb Perspect Med. 2012;2:a006916 pubmed publisher
    ..In cells that are not fully activated, limiting levels of Tat and Rev act as potent blocks to premature virus production. ..
  82. White T, Lambowitz A. The retrohoming of linear group II intron RNAs in Drosophila melanogaster occurs by both DNA ligase 4-dependent and -independent mechanisms. PLoS Genet. 2012;8:e1002534 pubmed publisher
    ..Additionally, our results reveal novel activities of group II intron reverse transcriptases, with implications for retrohoming mechanisms and potential biotechnological applications. ..
  83. Prudencio M, Jansen West K, Lee W, Gendron T, Zhang Y, Xu Y, et al. Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A. 2012;109:21510-5 pubmed publisher
    ..Based on these results, we propose a potential mechanism linking misregulation of sortilin splicing with altered PGRN metabolism. ..
  84. Johnson K, Yu Y, Gao L, Eng R, Wasteneys G, Chen X, et al. A partial loss-of-function mutation in an Arabidopsis RNA polymerase III subunit leads to pleiotropic defects. J Exp Bot. 2016;67:2219-30 pubmed publisher
    ..Future analyses using thenrpc7-1mutant will be instrumental in examining other unknown Pol III functions. ..
  85. Lee Y, Park D, Iyer V. The ATP-dependent chromatin remodeler Chd1 is recruited by transcription elongation factors and maintains H3K4me3/H3K36me3 domains at actively transcribed and spliced genes. Nucleic Acids Res. 2017;45:7180-7190 pubmed publisher
    ..Intron retention was significantly lower in the absence of CHD1, suggesting that CHD1 function as a chromatin remodeler could indirectly affect RNA splicing. ..
  86. Takacs A, Denker J, Perrine K, Maroney P, Nilsen T. A 22-nucleotide spliced leader sequence in the human parasitic nematode Brugia malayi is identical to the trans-spliced leader exon in Caenorhabditis elegans. Proc Natl Acad Sci U S A. 1988;85:7932-6 pubmed
    ..These results indicate that trans-splicing is widespread in nematodes and argue for the functional significance of the 22-nt spliced leader exon in nematode mRNA metabolism...
  87. Barry E, Gesek F, Froehner S, Friedman P. Multiple calcium channel transcripts in rat osteosarcoma cells: selective activation of alpha 1D isoform by parathyroid hormone. Proc Natl Acad Sci U S A. 1995;92:10914-8 pubmed
    ..The present results provide evidence for the expression of three distinct calcium channel alpha 1-subunit isoforms in an osteoblast-like cell line. We conclude that the alpha 1D isoform is selectively activated by parathyroid hormone. ..
  88. Klein R, Silos Santiago I, Smeyne R, Lira S, Brambilla R, Bryant S, et al. Disruption of the neurotrophin-3 receptor gene trkC eliminates la muscle afferents and results in abnormal movements. Nature. 1994;368:249-51 pubmed
    ..These mice display abnormal movements and postures, indicating that NT3/TrkC-dependent sensor; neurons may play a primary role in proprioception, the sense of position and movement of the limbs. ..
  89. Chuang R, Weaver P, Liu Z, Chang T. Requirement of the DEAD-Box protein ded1p for messenger RNA translation. Science. 1997;275:1468-71 pubmed
    ..The DED1 gene could be functionally replaced by a mouse homolog, PL10, which suggests that the function of Ded1p in translation is evolutionarily conserved. ..
  90. Evans D, Li Y, Fox M, Smith G. A WD repeat protein, Rec14, essential for meiotic recombination in Schizosaccharomyces pombe. Genetics. 1997;146:1253-64 pubmed
    ..pombe rec genes. Based upon mutant phenotypes and amino acid sequence similarities, we propose that S. pombe Rec14 is a functional homologue of S. cerevisiae Rec103. ..
  91. Menegay H, Myers M, Moeslein F, Landreth G. Biochemical characterization and localization of the dual specificity kinase CLK1. J Cell Sci. 2000;113 ( Pt 18):3241-53 pubmed
    ..Contrary to previous studies using overexpression systems, we show that CLK1 protein is primarily found in the cytoplasm of these cells, with only a small fraction localized to the nucleus. ..
  92. Gussow A, Giordani N, Tran R, Imai Y, Kwiatkowski D, Rall G, et al. Tissue-specific splicing of the herpes simplex virus type 1 latency-associated transcript (LAT) intron in LAT transgenic mice. J Virol. 2006;80:9414-23 pubmed
    ..Taken together, these data indicate that the regulation of expression and processing of LAT RNA within the mouse is highly cell-type specific and occurs in the absence of other viral cis- and trans-acting factors. ..