Display options
Cite
Chauhan BK, Medsinge A, Scanga HL, et al. Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players. Mol Genet Metab Rep. 2021;26:100712doi: 10.1016/j.ymgmr.2021.100712.
Chauhan, B. K., Medsinge, A., Scanga, H. L., Chu, C. T., & Nischal, K. K. (2021). Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players. Molecular genetics and metabolism reports, 26100712. https://doi.org/10.1016/j.ymgmr.2021.100712
Chauhan, Bharesh K, et al. "Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players." Molecular genetics and metabolism reports vol. 26 (2021): 100712. doi: https://doi.org/10.1016/j.ymgmr.2021.100712
Chauhan BK, Medsinge A, Scanga HL, Chu CT, Nischal KK. Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players. Mol Genet Metab Rep. 2021 Jan 27;26:100712. doi: 10.1016/j.ymgmr.2021.100712. eCollection 2021 Mar. PMID: 33552906; PMCID: PMC7846932.
Copy Download .nbib Format: NLM
Share it on

Mol Genet Metab Rep. 2021 Jan 27;26:100712. doi: 10.1016/j.ymgmr.2021.100712. eCollection 2021 Mar.

Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players.

Molecular genetics and metabolism reports

Bharesh K Chauhan, Anagha Medsinge, Hannah L Scanga, Charleen T Chu, Ken K Nischal

Affiliations

  1. UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
  2. Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
  3. Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

PMID: 33552906 PMCID: PMC7846932 DOI: 10.1016/j.ymgmr.2021.100712

Abstract

Congenital corneal opacities (CCO) are a group of blinding corneal disorders, where the underlying molecular mechanisms are poorly understood. Phenotyping through specialized imaging and histopathology analysis, together with assessment of key transcriptomic changes (including glycosaminoglycan metabolic enzymes) in cornea(s) with CCO from a case of Fanconi anemia is the approach taken in this study to identify causal mechanisms. Based on our findings, we propose a novel mechanism and two key players contributing to CCO.

Published by Elsevier Inc.

Keywords: Basement membrane disruption; Corneal opacity; Fibrosis; Glycosaminoglycans; Transcriptome analysis

Conflict of interest statement

The authors declare no conflict of interest.

References

  1. Acta Paediatr Taiwan. 1999 Jan-Feb;40(1):46-9 - PubMed
  2. Biochem Soc Trans. 2018 Apr 17;46(2):343-350 - PubMed
  3. Curr Top Microbiol Immunol. 2014;373:113-29 - PubMed
  4. Radiat Res. 2018 Feb;189(2):177-186 - PubMed
  5. Springer Semin Immunopathol. 1999;21(4):397-414 - PubMed
  6. Br J Ophthalmol. 2002 Jan;86(1):62-9 - PubMed
  7. Sci Rep. 2016 Feb 22;6:20807 - PubMed
  8. Arch Biochem Biophys. 2019 Mar 15;663:228-238 - PubMed
  9. Eur Respir Rev. 2019 Oct 1;28(153): - PubMed
  10. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):461-9 - PubMed
  11. Invest Ophthalmol Vis Sci. 2011 Aug 24;52(9):6720-8 - PubMed
  12. Cell Rep. 2018 May 1;23(5):1409-1423 - PubMed
  13. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4044-4053 - PubMed
  14. Hematology. 2005;10 Suppl 1:108-10 - PubMed
  15. Cornea. 2014 Aug;33(8):848-50 - PubMed
  16. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):120-32 - PubMed
  17. Invest Ophthalmol Vis Sci. 1999 Sep;40(10):2185-90 - PubMed
  18. Cornea. 2012 Mar;31(3):293-8 - PubMed
  19. Ophthalmic Surg. 1993 Jan;24(1):31-5 - PubMed
  20. Eye (Lond). 2003 Nov;17(8):912-8 - PubMed
  21. Eye (Lond). 2007 Oct;21(10):1326-37 - PubMed
  22. Nucleic Acids Res. 2002 Jan 1;30(1):207-10 - PubMed
  23. Invest Ophthalmol Vis Sci. 1996 Oct;37(11):2285-92 - PubMed
  24. Ophthalmology. 2010 Mar;117(3):615-22 - PubMed
  25. Cornea. 2015 Oct;34 Suppl 10:S24-34 - PubMed
  26. J Biol Chem. 2002 Mar 29;277(13):11539-48 - PubMed
  27. Gene. 2019 Jul 30;707:151-171 - PubMed
  28. Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2917-27 - PubMed
  29. Cornea. 2015 Feb;34(2):117-59 - PubMed
  30. Structure. 2010 Feb 10;18(2):239-45 - PubMed
  31. Mol Biol Cell. 2011 Nov;22(21):4068-78 - PubMed
  32. J Cell Mol Med. 2008 Dec;12(6B):2836-47 - PubMed
  33. Nature. 2015 Jan 29;517(7536):616-20 - PubMed
  34. Curr Opin Ophthalmol. 2012 Sep;23(5):344-54 - PubMed
  35. Gene. 2013 Dec 1;531(2):444-50 - PubMed
  36. Free Radic Biol Med. 2011 Dec 15;51(12):2210-6 - PubMed
  37. Invest Ophthalmol Vis Sci. 2019 Feb 1;60(2):661-676 - PubMed
  38. Sci Transl Med. 2019 Jun 12;11(496): - PubMed
  39. PLoS One. 2010 Sep 29;5(9): - PubMed
  40. Ophthalmologica. 1999;213(3):200-5 - PubMed
  41. Exp Eye Res. 2010 Sep;91(3):326-35 - PubMed
  42. Exp Biol Med (Maywood). 2002 May;227(5):301-14 - PubMed
  43. Exp Eye Res. 2016 Jul;148:83-89 - PubMed
  44. Exp Eye Res. 2007 Jan;84(1):3-12 - PubMed
  45. Biomaterials. 2013 Sep;34(27):6412-21 - PubMed
  46. Invest Ophthalmol Vis Sci. 2014 May 08;55(5):3037-42 - PubMed
  47. J Biol Chem. 2013 Nov 29;288(48):34304-24 - PubMed
  48. Genome Res. 1998 Mar;8(3):186-94 - PubMed
  49. Adv Exp Med Biol. 1994;350:211-7 - PubMed
  50. Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):11929-34 - PubMed
  51. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4200-8 - PubMed
  52. AAPS J. 2016 Jul;18(4):814-8 - PubMed
  53. J Med Chem. 2017 May 25;60(10):4258-4266 - PubMed
  54. Cytotherapy. 2007;9(3):252-8 - PubMed
  55. Eye (Lond). 2014 Oct;28(10):1201-5 - PubMed
  56. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4336-49 - PubMed
  57. Pediatr Nephrol. 2012 May;27(5):869-72 - PubMed
  58. J Biol Chem. 2012 Jan 27;287(5):3462-78 - PubMed
  59. Nat Methods. 2008 Jul;5(7):621-8 - PubMed
  60. Exp Eye Res. 2016 Jan;142:110-8 - PubMed
  61. Exp Eye Res. 2000 Jun;70(6):777-84 - PubMed
  62. Curr Opin Ophthalmol. 2017 Sep;28(5):477-484 - PubMed
  63. PLoS One. 2014 Jan 16;9(1):e78644 - PubMed
  64. Am J Pathol. 2016 Sep;186(9):2310-6 - PubMed
  65. Eye (Lond). 2013 Mar;27(3):367-73 - PubMed
  66. Acta Ophthalmol. 2014 Mar;92(2):171-8 - PubMed
  67. Cornea. 2004 Aug;23(6):565-70 - PubMed
  68. Sci Rep. 2018 Jan 10;8(1):389 - PubMed
  69. Genome Biol. 2016 Jan 26;17:13 - PubMed

Publication Types

Grant support