FECD3 TCF4

E2-2 protein and Fuchs's corneal dystrophy.

Keith H,Baratz, Nirubol,Tosakulwong, Euijung,Ryu, William L,Brown, Kari,Branham, Wei,Chen, Khoa D,Tran, Katharina E,Schmid-Kubista, John R,Heckenlively, Anand,Swaroop, Goncalo,Abecasis, Kent R,Bailey, Albert O,Edwards

Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience.

Natalie A,Afshari, Aaron B,Pittard, Adnan,Siddiqui, Gordon K,Klintworth

Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.

Xunzhi,Zhang, Ashwani,Kumar, Xin,Gong, Chao,Xing, V Vinod,Mootha

Pharmacological profile of non-hydroxylated and ether derivatives of the potent D2-selective agonist N-0437.

J M,Jansen, I,den Daas, H,Rollema, P J,Swart, P G,Tepper, J B,de Vries, A S,Horn

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

S Amer,Riazuddin, Elyse J,McGlumphy, William S,Yeo, Jiangxia,Wang, Nicholas,Katsanis, John D,Gottsch

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

Eric D,Wieben, Ross A,Aleff, Bruce W,Eckloff, Elizabeth J,Atkinson, Saurabh,Baheti, Sumit,Middha, William L,Brown, Sanjay V,Patel, Jean-Pierre A,Kocher, Keith H,Baratz

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

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

Jintang,Du, Ross A,Aleff, Elisabetta,Soragni, Krishna,Kalari, Jinfu,Nie, Xiaojia,Tang, Jaime,Davila, Jean-Pierre,Kocher, Sanjay V,Patel, Joel M,Gottesfeld, Keith H,Baratz, Eric D,Wieben

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

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

Eric D,Wieben, Ross A,Aleff, Nirubol,Tosakulwong, Malinda L,Butz, W Edward,Highsmith, Albert O,Edwards, Keith H,Baratz

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants.

Margaux L A,Hujoel, Robert E,Handsaker, Nolan,Kamitaki, Ronen E,Mukamel, Simone,Rubinacci, Pier F,Palamara, Steven A,McCarroll, Po-Ru,Loh

TCF4 trinucleotide repeat expansions and UV irradiation increase susceptibility to ferroptosis in Fuchs endothelial corneal dystrophy.

Sanjib,Saha, Jessica M,Skeie, Gregory A,Schmidt, Tim,Eggleston, Hanna,Shevalye, Christopher S,Sales, Pornpoj,Phruttiwanichakun, Apurva,Dusane, Matthew G,Field, Tommy A,Rinkoski, Michael P,Fautsch, Keith H,Baratz, Madhuparna,Roy, Albert S,Jun, Chandler,Pendleton, Aliasger K,Salem, Mark A,Greiner

Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year.

Oliver,Dorado-Cortez, Emmanuel,Crouzet, Marie Caroline,Trone, Philippe,Gain, Zhiguo,He, Hanielle,Vaitinadapoule, Marielle,Mentek, Frédéric,Mascarelli, Sylvain,Poinard, Mari,Yasunaga, Go,Nishiuchi, Noriko,Koizumi, Naoki,Okumura, Gilles,Thuret

Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.

Christina,Zarouchlioti, Stephanie,Efthymiou, Stefano,Facchini, Natalia,Dominik, Nihar,Bhattacharyya, Siyin,Liu, Marcos Abreu,Costa, Anita,Szabo, Amanda N,Sadan, Albert S,Jun, Enrico,Bugiardini, Henry,Houlden, Andrea,Cortese, Pavlina,Skalicka, Lubica,Dudakova, Kirithika,Muthusamy, Michael E,Cheetham, Alison J,Hardcastle, Petra,Liskova, Stephen J,Tuft, Alice E,Davidson

Increased Risk of Glaucoma in Fuchs Endothelial Corneal Dystrophy Is Independent of TCF4 Trinucleotide Repeat Expansion.

Chao,Xing, Sara,Schultis, Vladyslav,Bondar, Xin,Gong, Jess T,Whitson, V Vinod,Mootha

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

Nihar,Bhattacharyya, Niuzheng,Chai, Nathaniel J,Hafford-Tear, Amanda N,Sadan, Anita,Szabo, Christina,Zarouchlioti, Jana,Jedlickova, Szi Kay,Leung, Tianyi,Liao, Lubica,Dudakova, Pavlina,Skalicka, Mohit,Parekh, Ismail,Moghul, Aaron R,Jeffries, Michael E,Cheetham, Kirithika,Muthusamy, Alison J,Hardcastle, Nikolas,Pontikos, Petra,Liskova, Stephen J,Tuft, Alice E,Davidson

Transcription factor 4 promotes increased corneal endothelial cellular migration by altering microtubules in Fuchs endothelial corneal dystrophy.

Judy,Yan, Shanti,Mehta, Keya,Patel, Narisa,Dhupar, Ness,Little, Stephan,Ong Tone

Comparison of Scheimpflug and Anterior Segment Optical Coherence Tomography Imaging Parameters for Japanese Patients With Fuchs Endothelial Corneal Dystrophy With and Without TCF4 Repeat Expansions.

Sayo,Maeno, Yoshinori,Oie, Ryota,Koto, Nozomi,Nishida, Arisa,Yamashita, Michika,Yoshioka, Chifune,Kai, Takeshi,Soma, Shizuka,Koh, Masahito,Yoshihara, Ryo,Kawasaki, Vishal,Jhanji, Masayuki,Nakamori, Motokazu,Tsujikawa, Kohji,Nishida

Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives.