@article{048a2057964441c58f33eb020652b74b,
title = "Identification of a novel TCF4 isoform in the human corneal endothelium",
abstract = "Purpose: Alternative splice isoforms of TCF4, a gene implicated in Fuchs corneal dystrophy, have been identified in multiple human tissues outside of the eye. The aim of this study was to identify the transcriptional profile of TCF4 in the corneal endothelium. Methods: We extracted RNA from the donor corneal endothelium and performed rapid amplification of cDNA ends. We tested the expression pattern of 1 newly identified isoform (7b) in a panel of cDNA derived from multiple human tissues and included cDNA from corneal endothelial (CE) and retinal pigment epithelial cell lines. To further delineate differential expression of TCF4 splice variants that span CTG18.1, we analyzed expression of 6 alternative splice isoforms that are transcribed from either exon 2 or 3 in RNA extracted from the corneal endothelium of 3 normal donors and a CE cell line. Results: We identified 11 different isoforms in control CE tissue, including 1 isoform (7b) not reported previously. This isoform is enriched specifically in the corneal endothelium and placenta compared with other tissues in a panel of human cDNA. Conclusions: We demonstrate the complex expression profile of TCF4 in the human corneal endothelium and reveal expression of alternative splice variants of TCF4.",
keywords = "Cornea, Endothelium, TCF4",
author = "Eghrari, {Allen O.} and Shivakumar Vasanth and Gapsis, {Briana C.} and Henry Bison and Ula Jurkunas and {Amer Riazuddin}, S. and Gottsch, {John D.}",
note = "Funding Information: Received for publication October 20, 2017; revision received December 11, 2017; accepted December 13, 2017. Published online ahead of print April 19, 2018. From the *The Wilmer Eye Institute, Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD; and †Schepens Eye Research Institute, Department of Ophthalmology, Harvard Medical School, Boston MA. Supported by Grants R01EY016835 from the National Eye Institute, National Institutes of Health, Bethesda, MD, the Pakula Family Research Fund, and the Faller Family LLC. The authors have no conflicts of interest to disclose. Allen O. Eghrari and S. Vasanth contributed equally to this study. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal{\textquoteright}s Web site (www.corneajrnl.com). Correspondence: John D. Gottsch, MD, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe St, Woods #375, Baltimore, MD 21287 (e-mail: jgottsch@jhmi.edu). Copyright {\textcopyright} 2018 Wolters Kluwer Health, Inc. All rights reserved. Publisher Copyright: Copyright {\textcopyright} 2018 Wolters Kluwer Health, Inc. All rights reserved.",
year = "2018",
doi = "10.1097/NAQ.0000000000001521",
language = "English (US)",
volume = "37",
pages = "899--903",
journal = "Cornea",
issn = "0277-3740",
publisher = "Lippincott Williams and Wilkins",
number = "7",
}