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Items: 1 to 20 of 121

1.

Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.

Wieben ED, Aleff RA, Tang X, Kalari KR, Maguire LJ, Patel SV, Baratz KH, Fautsch MP.

PLoS One. 2018 Jul 2;13(7):e0200005. doi: 10.1371/journal.pone.0200005. eCollection 2018.

2.

CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs' dystrophy.

Foja S, Luther M, Hoffmann K, Rupprecht A, Gruenauer-Kloevekorn C.

Graefes Arch Clin Exp Ophthalmol. 2017 Aug;255(8):1621-1631. doi: 10.1007/s00417-017-3697-7. Epub 2017 Jun 12.

PMID:
28608272
3.

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.

Wieben ED, Aleff RA, Tang X, Butz ML, Kalari KR, Highsmith EW, Jen J, Vasmatzis G, Patel SV, Maguire LJ, Baratz KH, Fautsch MP.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):343-352. doi: 10.1167/iovs.16-20900.

4.

Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy.

Okumura N, Hayashi R, Nakano M, Yoshii K, Tashiro K, Sato T, Blake DJ, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Nakahara M, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N.

Invest Ophthalmol Vis Sci. 2019 Feb 1;60(2):779-786. doi: 10.1167/iovs.18-25760.

5.

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

Winkler NS, Milone M, Martinez-Thompson JM, Raja H, Aleff RA, Patel SV, Fautsch MP, Wieben ED, Baratz KH.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3053-3057. doi: 10.1167/iovs.17-23160.

6.

Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy.

Soragni E, Petrosyan L, Rinkoski TA, Wieben ED, Baratz KH, Fautsch MP, Gottesfeld JM.

Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1888-1896. doi: 10.1167/iovs.17-23265.

7.

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.

Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4579-4585. doi: 10.1167/iovs.17-22350.

8.

Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs' dystrophy.

Hu J, Rong Z, Gong X, Zhou Z, Sharma VK, Xing C, Watts JK, Corey DR, Mootha VV.

Hum Mol Genet. 2018 Mar 15;27(6):1015-1026. doi: 10.1093/hmg/ddy018.

9.

TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.

Mootha VV, Hussain I, Cunnusamy K, Graham E, Gong X, Neelam S, Xing C, Kittler R, Petroll WM.

Invest Ophthalmol Vis Sci. 2015 Feb 26;56(3):2003-11. doi: 10.1167/iovs.14-16222.

10.

RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.

Du J, Aleff RA, Soragni E, Kalari K, Nie J, Tang X, Davila J, Kocher JP, Patel SV, Gottesfeld JM, Baratz KH, Wieben ED.

J Biol Chem. 2015 Mar 6;290(10):5979-90. doi: 10.1074/jbc.M114.621607. Epub 2015 Jan 15.

11.

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO, Baratz KH.

PLoS One. 2012;7(11):e49083. doi: 10.1371/journal.pone.0049083. Epub 2012 Nov 21.

12.

Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy.

Okumura N, Hayashi R, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Ueda E, Nakahara M, Weller J, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N.

Cornea. 2019 Jul;38(7):799-805. doi: 10.1097/ICO.0000000000001952.

PMID:
30973406
13.

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE.

Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8.

14.

Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.

Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV.

JAMA Ophthalmol. 2015 Dec;133(12):1386-91. doi: 10.1001/jamaophthalmol.2015.3430.

PMID:
26401622
15.

Instability of TCF4 Triplet Repeat Expansion With Parent-Child Transmission in Fuchs' Endothelial Corneal Dystrophy.

Saade JS, Xing C, Gong X, Zhou Z, Mootha VV.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4065-4070. doi: 10.1167/iovs.18-24119.

16.

Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant.

Xing C, Gong X, Hussain I, Khor CC, Tan DT, Aung T, Mehta JS, Vithana EN, Mootha VV.

Invest Ophthalmol Vis Sci. 2014 Oct 8;55(11):7073-8. doi: 10.1167/iovs.14-15390.

17.

CTG18.1 Expansion is the Best Classifier of Late-Onset Fuchs' Corneal Dystrophy Among 10 Biomarkers in a Cohort From the European Part of Russia.

Skorodumova LO, Belodedova AV, Antonova OP, Sharova EI, Akopian TA, Selezneva OV, Kostryukova ES, Malyugin BE.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4748-4754. doi: 10.1167/iovs.18-24590.

PMID:
30267097
18.

Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study.

Rao BS, Tharigopala A, Rachapalli SR, Rajagopal R, Soumittra N.

Indian J Ophthalmol. 2017 Oct;65(10):931-935. doi: 10.4103/ijo.IJO_191_17.

19.

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

Kuot A, Hewitt AW, Snibson GR, Souzeau E, Mills R, Craig JE, Burdon KP, Sharma S.

PLoS One. 2017 Aug 23;12(8):e0183719. doi: 10.1371/journal.pone.0183719. eCollection 2017.

20.

Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.

Wieben ED, Aleff RA, Eckloff BW, Atkinson EJ, Baheti S, Middha S, Brown WL, Patel SV, Kocher JP, Baratz KH.

Invest Ophthalmol Vis Sci. 2014 Aug 28;55(9):6101-7. doi: 10.1167/iovs.14-14958.

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