Blunt scissors stromal dissection technique for deep anterior lamellar keratoplasty

por Anwar, Didar S, Kruger, Matthew M, Mootha, V Vinod
Publicado 2014

Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy

por Rong, Ziye, Hu, Jiaxin, Corey, David R., Mootha, V. Vinod
Publicado 2019

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

por Saade, Joanna S., Xing, Chao, Gong, Xin, Zhou, Zhengyang, Mootha, V. Vinod
Publicado 2018

The TCF4 Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye

por Hu, Jiaxin, Gong, Xin, Johnson, Samantha T., Corey, David R., Mootha, V. Vinod
Publicado 2023

Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

por Rong, Ziye, Gong, Xin, Hulleman, John D., Corey, David R., Mootha, V. Vinod
Publicado 2020

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

por Mootha, V. Vinod, Hansen, Brock, Rong, Ziye, Mammen, Pradeep P., Zhou, Zhengyang, Xing, Chao, Gong, Xin
Publicado 2017

Targeting the Expanded TCF4/Fuchs’ Endothelial Corneal Dystrophy CUG Repeat with Morpholino Peptide Conjugates

por Hu, Jiaxin, Shen, Xiulong, Kheirabadi, Mahboubeh, Streeter, Matthew D., Qian, Ziqing, Mootha, V. Vinod, Corey, David R.
Publicado 2023

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome

por Ali, Zahra, Xing, Chao, Anwar, Didar, Itani, Kamel, Weakley, David, Gong, Xin, Pascual, Juan M., Mootha, V. Vinod
Publicado 2014

A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa

por Woodard, DaNae R., Xing, Chao, Ganne, Pratyusha, Liang, Hanquan, Mahindrakar, Avinash, Sankurathri, Chandrasekhar, Hulleman, John D., Mootha, V. Vinod
Publicado 2021

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

por Hulleman, John D., Nguyen, Annie, Ramprasad, V.L., Murugan, Sakthivel, Gupta, Ravi, Mahindrakar, Avinash, Angara, Ravi, Sankurathri, Chandrasekhar, Mootha, V. Vinod
Publicado 2016

Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs’ Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion

por Gillings, Matthew, Mastro, Andrew, Zhang, Xunzhi, Kiser, Kelly, Gu, Jane, Xing, Chao, Robertson, Danielle M., Petroll, W. Matthew, Mootha, V. Vinod
Publicado 2022

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

por Hu, Jiaxin, Rong, Ziye, Gong, Xin, Zhou, Zhengyang, Sharma, Vivek K, Xing, Chao, Watts, Jonathan K, Corey, David R, Mootha, V Vinod
Publicado 2018

Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs’ Endothelial Corneal Dystrophy

por Soh, Yu Qiang, Peh Swee Lim, Gary, Htoon, Hla Myint, Gong, Xin, Mootha, V. Vinod, Vithana, Eranga Nishanthie, Kocaba, Viridiana, Mehta, Jodhbir Singh
Publicado 2019

Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease

por Chu, Yongjun, Hu, Jiaxin, Liang, Hanquan, Kanchwala, Mohammed, Xing, Chao, Beebe, Walter, Bowman, C Bradley, Gong, Xin, Corey, David R, Mootha, V Vinod
Publicado 2020

Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs’ Endothelial Corneal Dystrophy

por Leonard, Brian C., Park, Sangwan, Kim, Soohyun, Young, Laura J., Jalilian, Iman, Cosert, Krista, Zhang, Xunzhi, Skeie, Jessica M., Shevalye, Hanna, Echeverria, Nayeli, Rozo, Vanessa, Gong, Xin, Xing, Chao, Murphy, Christopher J., Greiner, Mark A., Mootha, V. Vinod, Raghunathan, Vijay Krishna, Thomasy, Sara M.
Publicado 2023

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

por Afshari, Natalie A., Igo, Robert P., Morris, Nathan J., Stambolian, Dwight, Sharma, Shiwani, Pulagam, V. Lakshmi, Dunn, Steven, Stamler, John F., Truitt, Barbara J., Rimmler, Jacqueline, Kuot, Abraham, Croasdale, Christopher R., Qin, Xuejun, Burdon, Kathryn P., Riazuddin, S. Amer, Mills, Richard, Klebe, Sonja, Minear, Mollie A., Zhao, Jiagang, Balajonda, Elmer, Rosenwasser, George O., Baratz, Keith H, Mootha, V. Vinod, Patel, Sanjay V., Gregory, Simon G., Bailey-Wilson, Joan E., Price, Marianne O., Price, Francis W., Craig, Jamie E., Fingert, John H., Gottsch, John D., Aldave, Anthony J., Klintworth, Gordon K., Lass, Jonathan H., Li, Yi-Ju, Iyengar, Sudha K.
Publicado 2017