Crossref journal-article
Elsevier BV
Journal of Biological Chemistry (78)
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Du, J., Aleff, R. A., Soragni, E., Kalari, K., Nie, J., Tang, X., Davila, J., Kocher, J.-P., Patel, S. V., Gottesfeld, J. M., Baratz, K. H., & Wieben, E. D. (2015). RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy. Journal of Biological Chemistry, 290(10), 5979–5990.

Authors 12
  1. Jintang Du (first)
  2. Ross A. Aleff (additional)
  3. Elisabetta Soragni (additional)
  4. Krishna Kalari (additional)
  5. Jinfu Nie (additional)
  6. Xiaojia Tang (additional)
  7. Jaime Davila (additional)
  8. Jean-Pierre Kocher (additional)
  9. Sanjay V. Patel (additional)
  10. Joel M. Gottesfeld (additional)
  11. Keith H. Baratz (additional)
  12. Eric D. Wieben (additional)
References 53 Referenced 115
  1. Eye Bank Association of America (2014) 2013 Eye Banking Statistical Report Washington, D.C.
  2. 10.1001/jamaophthalmol.2013.5009 / JAMA Ophthalmol / Phacopower modulation and the risk for postoperative corneal decompensation: a randomized clinical trial by Doors (2013)
  3. 10.1016/j.jcrs.2011.05.039 / J. Cataract Refract. Surg / Outcomes of cataract surgery in eyes with a low corneal endothelial cell density by Yamazoe (2011)
  4. 10.1056/NEJMoa1007064 / N. Engl. J. Med / E2-2 protein and Fuchs's corneal dystrophy by Baratz (2010)
  5. 10.1371/journal.pone.0049083 / PLoS ONE / A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy by Wieben (2012)
  6. 10.1167/iovs.13-12611 / Invest. Ophthalmol. Vis. Sci / Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy by Mootha (2014)
  7. 10.1001/jamaophthalmol.2013.7993 / JAMA Ophthalmol / Fuchs endothelial corneal dystrophy: a neurodegenerative disorder? by Zhu (2014)
  8. 10.1093/hmg/10.19.2165 / Hum. Mol. Genet / Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 by Mankodi (2001)
  9. 10.1016/S1474-4422(13)70125-X / Lancet Neurol / Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome by Hagerman (2013)
  10. 10.1016/j.neuron.2011.09.011 / Neuron / Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS by DeJesus-Hernandez (2011)
  11. 10.1016/j.brainres.2014.03.039 / Brain Res / RNA-protein interactions in unstable microsatellite diseases by Mohan (2014)
  12. 10.1002/ana.10763 / Ann. Neurol / Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2 by Mankodi (2003)
  13. 10.1016/j.molcel.2014.08.027 / Mol. Cell / Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease by Batra (2014)
  14. 10.1016/j.gde.2014.03.002 / Curr. Opin. Genet. Dev / Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders by Cleary (2014)
  15. 10.1001/archopht.1978.03910060424004 / Arch. Ophthalmol / Corneal endothelial dystrophy. A study of 64 families by Krachmer (1978)
  16. 10.1016/j.ophtha.2012.09.022 / Ophthalmology / Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio by Repp (2013)
  17. 10.1186/1471-2199-7-3 / BMC Mol. Biol / The RIN: an RNA integrity number for assigning integrity values to RNA measurements by Schroeder (2006)
  18. 10.1093/hmg/ddt386 / Hum. Mol. Genet / Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells by Du (2013)
  19. 10.1128/MCB.01174-12 / Mol. Cell. Biol / RBFOX2 is an important regulator of mesenchymal tissue-specific splicing in both normal and cancer tissues by Venables (2013)
  20. 10.1371/journal.pone.0033218 / PLoS ONE / Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain by Suenaga (2012)
  21. 10.1186/gb-2013-14-4-r36 / Genome Biol / TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions by Kim (2013)
  22. 10.1214/13-AOAS687 / Ann. Appl. Stat / Quantifying alternative splicing from paired-end RNA-sequencing data by Rossell (2014)
  23. 10.1371/journal.pone.0022138 / PLoS ONE / Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5′ exon usage and splicing by Sepp (2011)
  24. 10.1212/WNL.43.12.2674 / Neurology / Somatic instability of CTG repeat in myotonic dystrophy by Ashizawa (1993)
  25. {'key': '10.1074/jbc.M114.621607_bib25', 'first-page': '3952', 'article-title': 'Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy', 'volume': '117', 'author': 'Wheeler', 'year': '2007', 'journal-title': 'J. Clin. Invest'} / J. Clin. Invest / Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy by Wheeler (2007)
  26. 10.1038/ng704 / Nat. Genet / Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy by Savkur (2001)
  27. 10.1038/nmeth.1528 / Nat. Methods / Analysis and design of RNA sequencing experiments for identifying isoform regulation by Katz (2010)
  28. 10.1074/jbc.M111.236547 / J. Biol. Chem / Autoregulated splicing of muscleblind-like 1 (MBNL1) pre-mRNA by Gates (2011)
  29. 10.1038/jhg.2012.37 / J. Hum. Genet / Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy by Yamashita (2012)
  30. 10.1002/ana.23992 / Ann. Neurol / Splicing biomarkers of disease severity in myotonic dystrophy by Nakamori (2013)
  31. 10.1371/journal.pone.0107324 / PLoS ONE / RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1 by Klinck (2014)
  32. 10.1016/j.cell.2012.06.041 / Cell / Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins by Wang (2012)
  33. 10.1371/journal.pgen.1002218 / PLoS Genet / An EMT-driven alternative splicing program occurs in human breast cancer and modulates cellular phenotype by Shapiro (2011)
  34. 10.1016/j.semcancer.2012.04.003 / Semin. Cancer Biol / Complex changes in alternative pre-mRNA splicing play a central role in the epithelial-to-mesenchymal transition (EMT) by Warzecha (2012)
  35. 10.1586/eop.12.39 / Expert Rev. Ophthalmol / The genetics of Fuchs' corneal dystrophy by Iliff (2012)
  36. 10.1111/cge.12191 / Clin. Genet / Genetics of the corneal endothelial dystrophies: an evidence-based review by Aldave (2013)
  37. 10.1073/pnas.0708519105 / Proc. Natl. Acad. Sci. U.S.A / Expanded CTG repeats within the DMPK 3′ UTR cause severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy by Orengo (2008)
  38. 10.1126/science.1088583 / Science / A muscleblind knockout model for myotonic dystrophy by Kanadia (2003)
  39. 10.1093/hmg/dds306 / Hum. Mol. Genet / Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise by Chamberlain (2012)
  40. 10.1021/cb3001606 / ACS Chem. Biol / Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1 by Childs-Disney (2012)
  41. 10.1016/j.scr.2013.08.010 / Stem Cell Res / Oxidative stress causes DNA triplet expansion in Huntington's disease mouse embryonic stem cells by Jonson (2013)
  42. 10.2353/ajpath.2010.100279 / Am. J. Pathol / Evidence of oxidative stress in the pathogenesis of Fuchs endothelial corneal dystrophy by Jurkunas (2010)
  43. 10.1038/nrc2131 / Nat. Rev. Cancer / Snail, Zeb and bHLH factors in tumour progression: an alliance against the epithelial phenotype? by Peinado (2007)
  44. 10.1242/jcs.028241 / J. Cell Sci / The class I bHLH factors E2-2A and E2-2B regulate EMT by Sobrado (2009)
  45. 10.1016/j.ajhg.2009.12.001 / Am. J. Hum. Genet / Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p by Riazuddin (2010)
  46. 10.1186/1471-213X-12-22 / BMC Dev. Biol / Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFβ3 by LeMasters (2012)
  47. 10.1083/jcb.144.5.1001 / J. Cell Biol / Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions by Mandai (1999)
  48. 10.1182/blood-2009-03-212274 / Blood / Liprin β1 is highly expressed in lymphatic vasculature and is important for lymphatic vessel integrity by Norrmén (2010)
  49. 10.1074/jbc.M113.530972 / J. Biol. Chem / Neuroligin 1 induces blood vessel maturation by cooperating with the α6 integrin by Samarelli (2014)
  50. 10.1074/jbc.M303896200 / J. Biol. Chem / Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope by Kazerounian (2003)
  51. 10.1097/ICO.0b013e318285475d / Cornea / Rho-associated kinase inhibitor eye drop treatment as a possible medical treatment for Fuchs corneal dystrophy by Koizumi (2013)
  52. 10.1167/iovs.08-2909 / Invest. Ophthalmol. Vis. Sci / Abundant expression of ponsin, a focal adhesion protein, in lens and downregulation of its expression by impaired cytoskeletal signaling by Rao (2009)
  53. 10.1016/j.gene.2005.06.025 / Gene / Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain by Tse (2005)
Dates
Type When
Created 10 years, 7 months ago (Jan. 15, 2015, 10:48 p.m.)
Deposited 3 years, 8 months ago (Dec. 16, 2021, 3 p.m.)
Indexed 2 weeks, 4 days ago (Aug. 5, 2025, 8:30 a.m.)
Issued 10 years, 5 months ago (March 1, 2015)
Published 10 years, 5 months ago (March 1, 2015)
Published Print 10 years, 5 months ago (March 1, 2015)
Funders 0

None

@article{Du_2015, title={RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy}, volume={290}, ISSN={0021-9258}, url={http://dx.doi.org/10.1074/jbc.m114.621607}, DOI={10.1074/jbc.m114.621607}, number={10}, journal={Journal of Biological Chemistry}, publisher={Elsevier BV}, author={Du, Jintang and Aleff, Ross A. and Soragni, Elisabetta and Kalari, Krishna and Nie, Jinfu and Tang, Xiaojia and Davila, Jaime and Kocher, Jean-Pierre and Patel, Sanjay V. and Gottesfeld, Joel M. and Baratz, Keith H. and Wieben, Eric D.}, year={2015}, month=mar, pages={5979–5990} }