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Published in PloS one (12.02.2016)
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ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice
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Published in Human molecular genetics (15.04.2013)
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Expression of PRPF31 and TFPT: regulation in health and retinal disease
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Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Wright, Alan F, Bhattacharya, Shomi S, Chakarova, Christina F, Abd El-Aziz, Mai M
Published in Nature reviews. Genetics (01.04.2010)
Published in Nature reviews. Genetics (01.04.2010)
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TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
CHAKAROVA, Christina F, KHANNA, Hemant, CHEETHAM, Michael, KOENEKOOP, Robert K, RIOS, Rosa M, MATTER, Karl, WOLFRUM, Uwe, SWAROOP, Anand, BHATTACHARYA, Shomi S, SHAH, Amna Z, PATIL, Suresh B, SEDMAK, Tina, MURGA-ZAMALLOA, Carlos A, PAPAIOANNOU, Myrto G, NAGEL-WOLFRUM, Kerstin, LOPEZ, Irma, MUNRO, Peter
Published in Human molecular genetics (01.03.2011)
Published in Human molecular genetics (01.03.2011)
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Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene
Kousal, Bohdan, Skalicka, Pavlina, Valesova, Lucie, Fletcher, Tracy, Hart-Holden, Niki, O'Grady, Anna, Chakarova, Christina F, Michaelides, Michel, Hardcastle, Alison J, Liskova, Petra
Published in Molecular vision (20.09.2014)
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Published in Molecular vision (20.09.2014)
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Study of Gene-Targeted Mouse Models of Splicing Factor Gene Prpf31 Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)
Bujakowska, Kinga, Maubaret, Cecilia, Chakarova, Christina F, Tanimoto, Naoyuki, Beck, Susanne C, Fahl, Edda, Humphries, Marian M, Kenna, Paul F, Makarov, Evgeny, Makarova, Olga, Paquet-Durand, Francois, Ekstrom, Per A, van Veen, Theo, Leveillard, Thierry, Humphries, Peter, Seeliger, Mathias W, Bhattacharya, Shomi S
Published in Investigative ophthalmology & visual science (01.12.2009)
Published in Investigative ophthalmology & visual science (01.12.2009)
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Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
CHAKAROVA, Christina F, HIMS, Matthew M, ROSENBERG, Thomas, WEBSTER, Andrew R, BIRD, Alan C, GAL, Andreas, HUNT, David, VITHANA, Eranga N, BHATTACHARYA, Shomi S, BOLZ, Hanno, ABU-SAFIEH, Leen, PATEL, Reshma J, PAPAIOANNOU, Myrto G, INGLEHEARN, Chris F, KEEN, T. Jeffrey, WILLIS, Catherine, MOORE, Anthony T
Published in Human molecular genetics (2002)
Published in Human molecular genetics (2002)
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Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
Wilkie, Susan E, Vaclavik, Veronika, Wu, Huimin, Bujakowska, Kinga, Chakarova, Christina F, Bhattacharya, Shomi S, Warren, Martin J, Hunt, David M
Published in Molecular vision (18.04.2008)
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Published in Molecular vision (18.04.2008)
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
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
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa
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
Published in Molecular vision (02.03.2012)
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Published in Molecular vision (02.03.2012)
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Molecular genetic cause of X‐linked retinitis pigmentosa in a Czech family
Liskova, Petra, Colclough, Tracy, Hart‐Holden, Niki, Chakarova, Christina F., O’Grady, Anna, Kondrova, Lucie, Skalicka, Pavlina, Diblik, Pavel, Hardcastle, Alison J.
Published in Acta ophthalmologica (Oxford, England) (01.03.2011)
Published in Acta ophthalmologica (Oxford, England) (01.03.2011)
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Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families
Chakarova, Christina F, Cherninkova, Sylvia, Tournev, Ivailo, Waseem, Naushin, Kaneva, Radka, Jordanova, Albena, Veraitch, Brotati K, Gill, Bhavdip, Colclough, Tracy, Nakova, Anastasia, Oscar, Alexander, Mihaylova, Violeta, Nikolova-Hill, Amelia, Wright, Alan F, Black, Graeme C M, Ramsden, Simon, Kremensky, Ivo, Bhattacharya, Shomi S
Published in Molecular vision (11.08.2006)
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Published in Molecular vision (11.08.2006)
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A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p
PAPAIOANNOU, Myrto, CHAKAROVA, Christina F, PRESCOTT, De Quincy C, WASEEM, Naushin, THEIS, Thorsten, LOPEZ, Irma, GILL, Bhavdip, KOENEKOOP, Robert K, BHATTACHARYA, Shomi S
Published in Human genetics (01.12.2005)
Published in Human genetics (01.12.2005)
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A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT
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
Published in Journal of molecular and genetic medicine (01.08.2013)
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Lewis, Richard A, Attié-Bitach, Tania, Beer, Michael A, Inglehearn, Chris F, Katsanis, Nicholas, Waseem, Naushin, Jacobson, Samuel G, Estrada-Cuzcano, Alejandro, MacDonald, Ian, Wheeler, David A, Koenekoop, Robert K, Tan, Perciliz L, Othman, Mohammad I, Khanna, Hemant, Lopez, Irma, Muzny, Donna M, Swaroop, Anand, Lewis, Lora R, Bhattacharya, Shomi S, Diaz-Font, Anna, Maubaret, Cecilia, Gibbs, Richard A, Morgan, Margaret, Otto, Edgar A, Murga-Zamalloa, Carlos A, Chakarova, Christina F, Beales, Philip L, Zonneveld, Marijke N, Hildebrandt, Friedhelm, Davis, Erica E, Bergmann, Carsten, Johnson, Colin A, Logan, Clare V, den Hollander, Anneke I
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Linkage analysis in bipolar pedigrees adds support for a susceptibility locus on 21q22
Kaneva, Radka P, Chorbov, Vesselin M, Milanova, Vihra K, Kostov, Christian S, Nickolov, Kaloian I, Chakarova, Christina F, Stoyanova, Vesela S, Nikolova-Hill, Amelia N, Krastev, Stefan K, Onchev, George N, Kremensky, Ivo M, Kalaydjieva, Luba V, Jablensky, Assen V
Published in Psychiatric genetics (01.06.2004)
Published in Psychiatric genetics (01.06.2004)
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Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
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, Jr, 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
Published in Human molecular genetics (01.11.2014)
Published in Human molecular genetics (01.11.2014)
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Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
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.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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