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Items: 34

1.

Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy.

Cervantes AE, Gee KM, Whiting MF, Frausto RF, Aldave AJ.

Ophthalmic Genet. 2018 Aug;39(4):419-424. doi: 10.1080/13816810.2018.1459736. Epub 2018 Apr 19.

PMID:
29671669
2.

Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.

Zakharevich M, Kattan JM, Chen JL, Lin BR, Cervantes AE, Chung DD, Frausto RF, Aldave AJ.

Mol Vis. 2017 Oct 14;23:740-752. eCollection 2017.

3.

Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.

Chung DD, Frausto RF, Lin BR, Hanser EM, Cohen Z, Aldave AJ.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3202-3214. doi: 10.1167/iovs.17-21423.

4.

Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.

Kattan JM, Serna-Ojeda JC, Sharma A, Kim EK, Ramirez-Miranda A, Cruz-Aguilar M, Cervantes AE, Frausto RF, Zenteno JC, Graue-Hernandez EO, Aldave AJ.

Cornea. 2017 Feb;36(2):210-216. doi: 10.1097/ICO.0000000000001045.

5.

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ.

PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. eCollection 2017.

6.

Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants.

Kao L, Azimov R, Shao XM, Frausto RF, Abuladze N, Newman D, Aldave AJ, Kurtz I.

Am J Physiol Cell Physiol. 2016 Nov 1;311(5):C820-C830. doi: 10.1152/ajpcell.00233.2016. Epub 2016 Aug 31.

7.

Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.

Chung DW, Frausto RF, Chiu S, Lin BR, Aldave AJ.

Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4136-43. doi: 10.1167/iovs.16-19533.

8.

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.

Ann LB, Abbouda A, Frausto RF, Huseynli S, Gupta K, Alió JL, Aldave AJ.

Br J Ophthalmol. 2017 Apr;101(4):509-513. doi: 10.1136/bjophthalmol-2015-307602. Epub 2016 Jul 11.

PMID:
27402970
9.

Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Lin BR, Frausto RF, Vo RC, Chiu SY, Chen JL, Aldave AJ.

J Ophthalmol. 2016;2016:1968493. doi: 10.1155/2016/1968493. Epub 2016 Jun 12.

10.

Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.

Le DJ, Chung DW, Frausto RF, Kim MJ, Aldave AJ.

PLoS One. 2016 Jun 29;11(6):e0158467. doi: 10.1371/journal.pone.0158467. eCollection 2016.

11.

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.

Lin BR, Le DJ, Chen Y, Wang Q, Chung DD, Frausto RF, Croasdale C, Yee RW, Hejtmancik FJ, Aldave AJ.

PLoS One. 2016 Jun 16;11(6):e0157418. doi: 10.1371/journal.pone.0157418. eCollection 2016.

12.

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Chen JL, Lin BR, Gee KM, Gee JA, Chung DW, Frausto RF, Deng SX, Aldave AJ.

Mol Vis. 2015 Dec 31;21:1378-86. eCollection 2015.

13.

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ.

Mol Vis. 2015 Sep 17;21:1093-100. eCollection 2015.

14.

Transcriptomic Analysis of Cultured Corneal Endothelial Cells as a Validation for Their Use in Cell Replacement Therapy.

Frausto RF, Le DJ, Aldave AJ.

Cell Transplant. 2016;25(6):1159-76. doi: 10.3727/096368915X688948. Epub 2015 Sep 2.

15.

Transcriptome analysis of the human corneal endothelium.

Frausto RF, Wang C, Aldave AJ.

Invest Ophthalmol Vis Sci. 2014 Nov 6;55(12):7821-30. doi: 10.1167/iovs.14-15021.

16.

Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.

Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ.

Invest Ophthalmol Vis Sci. 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247.

17.

Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.

Jang MS, Roldan AN, Frausto RF, Aldave AJ.

Vision Res. 2014 Jul;100:88-92. doi: 10.1016/j.visres.2014.04.007. Epub 2014 Apr 26.

18.

Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12.

Kim MJ, Frausto RF, Rosenwasser GO, Bui T, Le DJ, Stone EM, Aldave AJ.

PLoS One. 2014 Apr 23;9(4):e95037. doi: 10.1371/journal.pone.0095037. eCollection 2014.

19.

Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

Bui T, Young JW, Frausto RF, Markello TC, Glasgow BJ, Aldave AJ.

Ophthalmic Genet. 2016;37(1):76-80. doi: 10.3109/13816810.2014.889169. Epub 2014 Feb 20.

20.

Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.

Aldave AJ, Ann LB, Frausto RF, Nguyen CK, Yu F, Raber IM.

JAMA Ophthalmol. 2013 Dec;131(12):1583-90. doi: 10.1001/jamaophthalmol.2013.5036.

21.

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8).

Han J, Young JW, Frausto RF, Isenberg SJ, Aldave AJ.

Ophthalmic Genet. 2015 Jun;36(2):145-8. doi: 10.3109/13816810.2013.837187. Epub 2013 Sep 27.

22.

Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.

Hung C, Ayabe RI, Wang C, Frausto RF, Aldave AJ.

Cornea. 2013 Sep;32(9):1283-7. doi: 10.1097/ICO.0b013e318298e176.

23.

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ, Han J, Frausto RF.

Clin Genet. 2013 Aug;84(2):109-19. doi: 10.1111/cge.12191. Epub 2013 Jun 10. Review.

25.

Astrocytic tissue inhibitor of metalloproteinase-1 (TIMP-1) promotes oligodendrocyte differentiation and enhances CNS myelination.

Moore CS, Milner R, Nishiyama A, Frausto RF, Serwanski DR, Pagarigan RR, Whitton JL, Miller RH, Crocker SJ.

J Neurosci. 2011 Apr 20;31(16):6247-54. doi: 10.1523/JNEUROSCI.5474-10.2011.

26.

Coxsackievirus preferentially replicates and induces cytopathic effects in undifferentiated neural progenitor cells.

Tsueng G, Tabor-Godwin JM, Gopal A, Ruller CM, Deline S, An N, Frausto RF, Milner R, Crocker SJ, Whitton JL, Feuer R.

J Virol. 2011 Jun;85(12):5718-32. doi: 10.1128/JVI.02261-10. Epub 2011 Apr 6.

27.

Intravenous administration of human embryonic stem cell-derived neural precursor cells attenuates cuprizone-induced central nervous system (CNS) demyelination.

Crocker SJ, Bajpai R, Moore CS, Frausto RF, Brown GD, Pagarigan RR, Whitton JL, Terskikh AV.

Neuropathol Appl Neurobiol. 2011 Oct;37(6):643-53. doi: 10.1111/j.1365-2990.2011.01165.x.

28.

Site-specific production of IL-6 in the central nervous system retargets and enhances the inflammatory response in experimental autoimmune encephalomyelitis.

Quintana A, Müller M, Frausto RF, Ramos R, Getts DR, Sanz E, Hofer MJ, Krauthausen M, King NJ, Hidalgo J, Campbell IL.

J Immunol. 2009 Aug 1;183(3):2079-88. doi: 10.4049/jimmunol.0900242. Epub 2009 Jul 13.

29.

Elevated ATG5 expression in autoimmune demyelination and multiple sclerosis.

Alirezaei M, Fox HS, Flynn CT, Moore CS, Hebb AL, Frausto RF, Bhan V, Kiosses WB, Whitton JL, Robertson GS, Crocker SJ.

Autophagy. 2009 Feb;5(2):152-8. Epub 2009 Feb 5.

30.
31.

Amelioration of coxsackievirus B3-mediated myocarditis by inhibition of tissue inhibitors of matrix metalloproteinase-1.

Crocker SJ, Frausto RF, Whitmire JK, Benning N, Milner R, Whitton JL.

Am J Pathol. 2007 Dec;171(6):1762-73. Epub 2007 Nov 30.

32.

Myelin oligodendrocyte glycoprotein peptide-induced experimental allergic encephalomyelitis and T cell responses are unaffected by immunoproteasome deficiency.

Frausto RF, Crocker SJ, Eam B, Whitmire JK, Whitton JL.

J Neuroimmunol. 2007 Dec;192(1-2):124-33. Epub 2007 Oct 26.

33.
34.

Persistent macrophage/microglial activation and myelin disruption after experimental autoimmune encephalomyelitis in tissue inhibitor of metalloproteinase-1-deficient mice.

Crocker SJ, Whitmire JK, Frausto RF, Chertboonmuang P, Soloway PD, Whitton JL, Campbell IL.

Am J Pathol. 2006 Dec;169(6):2104-16.

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