FECD3 TCF4

Associations between measures of oestrogen exposure and severity of Fuchs endothelial corneal dystrophy.

Redion B,Petrela, Chandra Divyash,Chhetri, Ahmad,Najafi, Zhaoqi,Zhang, Tommy,A Rinkoski, Eric D,Wieben, Michael P,Fautsch, Saptarshi,Chakraborty, Amy,E Millen, Sangita P,Patel

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

Transcriptional Profiling of Patients With Fuchs Endothelial Corneal Dystrophy With and Without Trinucleotide Repeat Expansion in TCF4.

Tatsuya,Nakagawa, Yuichi,Tokuda, Masakazu,Nakano, Ayana,Tateishi, Mari,Yasunaga, Theofilos,Tourtas, Ursula,Schlötzer-Schrehardt, Friedrich,Kruse, Kei,Tashiro, Noriko,Koizumi, Naoki,Okumura

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

Stephanie E.,Wallace, Lora JH,Bean

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

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

Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.

Zhen,Hu, Qin-Qin,Yan, Jing-Jin,Wan, Yu,Fan, Jun,Liu

Transcriptomic analysis implicates the involvement of RBM20 in Fuchs' endothelial corneal dystrophy with TCF4 repeat expansion.

Xunzhi,Zhang, Ze,Yu, Aundrea K,Westfall, Kunyi,Han, V Vinod,Mootha, Chao,Xing

Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.

Marcos,Abreu Costa, Amanda N,Sadan, Nihar,Bhattacharyya, Niuzheng,Chai, Christina,Zarouchlioti, Siyin,Liu, Anita,Szabo, Cian,Murphy, Lubica,Dudakova, Kirithika,Muthusamy, Pavlina,Skalicka, Ismail,Moghul, Nikolas,Pontikos, Petra,Liskova, Stephen J,Tuft, Alice E,Davidson

Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.

Sayo,Maeno, Arisa,Yamashita, Yoshinori,Oie, Ryota,Koto, Chifune,Kai, Nozomi,Nishida, Masayuki,Nakamori, Motokazu,Tsujikawa, Kohji,Nishida

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy.

Bushra,Alayed, Salina,Siddiqui, Seema,Anand, Chris F,Inglehearn, Christopher M,Watson, Manir,Ali

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Alena,Musilova, Petra,Lassuthova, Anna,Uhrova Meszarosova, Barbora,Straka, Jana,Krejcikova, Anna,Berounska, Marketa,Vlckova, Zuzana,Musova, Dana,Safka Brozkova

TCF4 expansion-associated loss of FN1 intron retention drives extracellular matrix accumulation in Fuchs endothelial corneal dystrophy.

Soichiro,Inagaki, Taichi,Yuasa, Theofilos,Tourtas, Ursula,Schlötzer-Schrehardt, Friedrich,Kruse, Noriko,Koizumi, Naoki,Okumura

Involvement of TGF-β signaling pathway-associated genes in the corneal endothelium of patients with Fuchs endothelial corneal dystrophy.

Tatsuya,Nakagawa, Tetsuro,Honda, Soichiro,Inagaki, Taichi,Yuasa, Theofilos,Tourtas, Ursula,Schlötzer-Schrehardt, Friedrich,Kruse, Ines,Aouimeur, Hanielle,Vaitinadapoule, Gauthier,Travers, Zhiguo,He, Philippe,Gain, Noriko,Koizumi, Gilles,Thuret, Naoki,Okumura

The TCF4 Gene Regulates Apoptosis of Corneal Endothelial Cells in Fuchs Endothelial Corneal Dystrophy.

Tatsuya,Nakagawa, Tetsuro,Honda, Taichi,Yuasa, Go,Nishiuchi, Masakazu,Sato, Ayumi,Tokunaga, Makiko,Nakahara, Theofilos,Tourtas, Ursula,Schlötzer-Schrehardt, Friedrich,Kruse, Prema,Padmanabhan, Amit,Chatterjee, Gajanan,Sathe, Vivek,Ghose, Narayanan,Janakiraman, Derek J,Blake, Noriko,Koizumi, Sailaja,Elchuri, Naoki,Okumura