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

Por Czub, Barbara, Shah, Amna Z., Alfano, Giovanna, Kruczek, Przemysław M., Chakarova, Christina F., Bhattacharya, Shomi S.
Publicado no PLoS One (2016)

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31

Por Wilkie, Susan E., Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M.
Publicado em 2008

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

Por Maubaret, Cécilia, Kosmaoglou, Maria, Low, Sancy, Chakarova, Christina F., Bidot, Samuel, Thauvin-Robinet, Christel, Robson, Anthony G., Waseem, Naushin, Cheetham, Michael E., Bhattacharya, Shomi S.
Publicado em 2012

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene

Por Kousal, Bohdan, Skalicka, Pavlina, Valesova, Lucie, Fletcher, Tracy, Hart-Holden, Niki, O'Grady, Anna, Chakarova, Christina F., Michaelides, Michel, Hardcastle, Alison J., Liskova, Petra
Publicado em 2014

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT

Por Rose, Anna M., Shah, Amna Z., Alfano, Giovanna, Bujakowska, Kinga M., Barker, Amy F., Robertson, J Louis, Rahman, Sufia, Sánchez, Lourdes Valdés, Diaz-Corrales, Francisco J., Chakarova, Christina F., Krishna, Abhay, Bhattacharya, Shomi S.
Publicado no J Mol Genet Med (2013)

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

Por Chakarova, Christina F., Khanna, Hemant, Shah, Amna Z., Patil, Suresh B., Sedmak, Tina, Murga-Zamalloa, Carlos A., Papaioannou, Myrto G., Nagel-Wolfrum, Kerstin, Lopez, Irma, Munro, Peter, Cheetham, Michael, Koenekoop, Robert K., Rios, Rosa M., Matter, Karl, Wolfrum, Uwe, Swaroop, Anand, Bhattacharya, Shomi S.
Publicado em 2011

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

Por Chakarova, Christina F. , Papaioannou, Myrto G. , Khanna, Hemant , Lopez, Irma , Waseem, Naushin , Shah, Amna , Theis, Torsten , Friedman, James , Maubaret, Cecilia , Bujakowska, Kinga , Veraitch, Brotati , El-Aziz, Mai M. Abd , Prescott, De Quincy , Parapuram, Sunil K. , Bickmore, Wendy A. , Munro, Peter M. G. , Gal, Andreas , Hamel, Christian P. , Marigo, Valeria , Ponting, Chris P. , Wissinger, Bernd , Zrenner, Eberhart , Matter, Karl , Swaroop, Anand , Koenekoop, Robert K. , Bhattacharya, Shomi S. 
Publicado em 2007

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

Por Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therése, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Gränse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Göring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Bhattacharya, Shomi S., Daiger, Stephen P., Heckenlively, John R., Andréasson, Sten, Swaroop, Anand
Publicado em 2009

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Por Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Publicado em 2009

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Por Ratnapriya, Rinki, Zhan, Xiaowei, Fariss, Robert N., Branham, Kari E., Zipprer, David, Chakarova, Christina F., Sergeev, Yuri V., Campos, Maria M., Othman, Mohammad, Friedman, James S., Maminishkis, Arvydas, Waseem, Naushin H., Brooks, Matthew, Rajasimha, Harsha K., Edwards, Albert O., Lotery, Andrew, Klein, Barbara E., Truitt, Barbara J., Li, Bingshan, Schaumberg, Debra A., Morgan, Denise J., Morrison, Margaux A., Souied, Eric, Tsironi, Evangelia E., Grassmann, Felix, Fishman, Gerald A., Silvestri, Giuliana, Scholl, Hendrik P.N., Kim, Ivana K., Ramke, Jacqueline, Tuo, Jingsheng, Merriam, Joanna E., Merriam, John C., Park, Kyu Hyung, Olson, Lana M., Farrer, Lindsay A., Johnson, Matthew P., Peachey, Neal S., Lathrop, Mark, Baron, Robert V., Igo, Robert P., Klein, Ronald, Hagstrom, Stephanie A., Kamatani, Yoichiro, Martin, Tammy M., Jiang, Yingda, Conley, Yvette, Sahel, Jose-Alan, Zack, Donald J., Chan, Chi-Chao, Pericak-Vance, Margaret A., Jacobson, Samuel G., Gorin, Michael B., Klein, Michael L., Allikmets, Rando, Iyengar, Sudha K., Weber, Bernhard H., Haines, Jonathan L., Léveillard, Thierry, Deangelis, Margaret M., Stambolian, Dwight, Weeks, Daniel E., Bhattacharya, Shomi S., Chew, Emily Y., Heckenlively, John R., Abecasis, Gonçalo R., Swaroop, Anand
Publicado em 2014