CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

by Giulia Venturini, Anna M Rose, Amna Z Shah, Shomi S Bhattacharya, Carlo Rivolta
Published 2012-01-01

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.

by Barbara Czub, Amna Z Shah, Giovanna Alfano, Przemysław M Kruczek, Christina F Chakarova, Shomi S Bhattacharya
Published 2016-01-01

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.

by Giovanna Alfano, Przemyslaw M Kruczek, Amna Z Shah, Barbara Kramarz, Glen Jeffery, Andrew C Zelhof, Shomi S Bhattacharya
Published 2016-01-01

Non-coding RNAs in pluripotency and neural differentiation of human pluripotent stem cells

by Dunja eLukovic, Victoria eMoreno-Manzano, Martin eKlabusay, Miodrag eStojkovic, Miodrag eStojkovic, Shomi S Bhattacharya, SLAVEN eERCEG
Published 2014-05-01

Distinct gene expression profiles underlie morphological and etiological differences in pediatric cataracts

by Shaika Shanbagh, Jyoti Matalia, Ramaraj Kannan, Rohit Shetty, Pratibha Panmand, Sumitha O Muthu, Shyam S Chaurasia, Vrushali Deshpande, Shomi S Bhattacharya, Abilash V Gopalakrishnan, Arkasubhra Ghosh
Published 2023-01-01

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.

by Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle
Published 2012-01-01

Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

by Shomi S. Bhattacharya, Emeline F. Nandrot, José-Alain Sahel, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Giovanna Alfano, Maria Luz Bellido Diaz, Abhay Krishna, Isabelle Audo, Jordan A. Doumanov, Christina Zeitz, Paloma Dominguez Gimenez
Published 2013-07-01

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans

by Emilia Boiadjieva Knöpfel, Emilia Boiadjieva Knöpfel, Emilia Boiadjieva Knöpfel, Clara Vilches, Clara Vilches, Simone M. R. Camargo, Simone M. R. Camargo, Ekaitz Errasti-Murugarren, Ekaitz Errasti-Murugarren, Andrina Stäubli, Andrina Stäubli, Clara Mayayo, Clara Mayayo, Francis L. Munier, Nataliya Miroshnikova, Nadège Poncet, Nadège Poncet, Alexandra Junza, Alexandra Junza, Shomi S. Bhattacharya, Shomi S. Bhattacharya, Esther Prat, Esther Prat, Esther Prat, Vanita Berry, Wolfgang Berger, Wolfgang Berger, Wolfgang Berger, Elise Heon, Anthony T. Moore, Anthony T. Moore, Anthony T. Moore, Óscar Yanes, Óscar Yanes, Virginia Nunes, Virginia Nunes, Virginia Nunes, Manuel Palacín, Manuel Palacín, Manuel Palacín, Francois Verrey, Francois Verrey, Francois Verrey, Barbara Kloeckener-Gruissem, Barbara Kloeckener-Gruissem
Published 2019-06-01

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

by Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanathan, Giovanna Alfano, Christina Chakarova, Heather J Cordell, David F Garway-Heath, Peng T Khaw, Shomi S Bhattacharya, Ahmad Waseem, Paul J Foster
Published 2020-04-01

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

by Monisha E Nongpiur, Chiea Chuen Khor, Hongyan Jia, Belinda K Cornes, Li-Jia Chen, Chunyan Qiao, K Saidas Nair, Ching-Yu Cheng, Liang Xu, Ronnie George, Do Tan, Khaled Abu-Amero, Shamira A Perera, Mineo Ozaki, Takanori Mizoguchi, Yasuo Kurimoto, Sancy Low, Liza-Sharmini A Tajudin, Ching-Lin Ho, Clement C Y Tham, Ileana Soto, Paul T K Chew, Hon-Tym Wong, Balekudaru Shantha, Masako Kuroda, Essam A Osman, Guangxian Tang, Sujie Fan, Hailin Meng, Hua Wang, Bo Feng, Victor H K Yong, Serena M L Ting, Yang Li, Ya-Xing Wang, Zheng Li, Raghavan Lavanya, Ren-Yi Wu, Ying-Feng Zheng, Daniel H Su, Seng-Chee Loon, Vernon K Y Yong, R Rand Allingham, Michael A Hauser, Nagaswamy Soumittra, Vedam L Ramprasad, Naushin Waseem, Azhany Yaakub, Kee-Seng Chia, Govindasamy Kumaramanickavel, Tina T Wong, Alicia C How, Tran Nguyen Bich Chau, Cameron P Simmons, Jin-Xin Bei, Yi-Xin Zeng, Shomi S Bhattacharya, Mingzhi Zhang, Donald T Tan, Yik-Ying Teo, Saleh A Al-Obeidan, Do Nhu Hon, E-Shyong Tai, Seang-Mei Saw, Paul J Foster, Lingam Vijaya, Jost B Jonas, Tien-Yin Wong, Simon W M John, Chi-Pui Pang, Eranga N Vithana, Ningli Wang, Tin Aung
Published 2014-03-01