CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

por Venturini, Giulia, Rose, Anna M., Shah, Amna Z., Bhattacharya, Shomi S., Rivolta, Carlo
Publicado 2012

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

por Lukovic, Dunja, Moreno-Manzano, Victoria, Klabusay, Martin, Stojkovic, Miodrag, Bhattacharya, Shomi S., Erceg, Slaven
Publicado 2014

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

por Gandra, Mamatha, Anandula, Venkataramana, Authiappan, Vidhya, Sundaramurthy, Srilekha, Raman, Rajiv, Bhattacharya, Shomi, Govindasamy, Kumaramanickavel
Publicado 2008

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract

por Berry, Vanita, Francis, Peter J., Prescott, Quincy, Waseem, Naushin H., Moore, Anthony T., Bhattacharya, Shomi S.
Publicado 2011

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”

por Rose, Anna M, Shah, Amna Z, Venturini, Giulia, Rivolta, Carlo, Rose, Geoffrey E, Bhattacharya, Shomi S
Publicado 2013

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 2016

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

por Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.
Publicado 2016

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

por Alfano, Giovanna, Kruczek, Przemyslaw M., Shah, Amna Z., Kramarz, Barbara, Jeffery, Glen, Zelhof, Andrew C., Bhattacharya, Shomi S.
Publicado 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 2008

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study

por Low, Sancy, Davidson, Alice E., Holder, Graham E., Hogg, Chris R., Bhattacharya, Shomi S., Black, Graeme C., Foster, Paul J., Webster, Andrew R.
Publicado 2011

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

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

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

por Henderson, Robert H., Li, Zheng, El Aziz, Mai M. Abd, Mackay, Donna S., Eljinini, Mohammad A., Zeidan, Marwan, Moore, Anthony T., Bhattacharya, Shomi S., Webster, Andrew R.
Publicado 2010

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 2012

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

por Audo, Isabelle, Bujakowska, Kinga, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Moskova-Doumanova, Veselina, Waseem, Naushin H, Antonio, Aline, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado 2010

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

por Kamenarova, Kunka, Corton, Marta, García-Sandoval, Blanca, Fernández-San Jose, Patricia, Panchev, Valentin, Ávila-Fernández, Almudena, López-Molina, Maria Isabel, Chakarova, Christina, Ayuso, Carmen, Bhattacharya, Shomi S.
Publicado 2013

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

por Audo, Isabelle, Bujakowska, Kinga, Mohand-Saïd, Saddek, Tronche, Sophie, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi, Zeitz, Christina
Publicado 2011

High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

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

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

por Mackay, Donna S., Henderson, Robert H., Sergouniotis, Panagiotis I., Li, Zheng, Moradi, Phillip, Holder, Graham E., Waseem, Naushin, Bhattacharya, Shomi S., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Meyer, Brian, Webster, Andrew R., Moore, Anthony T.
Publicado 2010

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

por Audo, Isabelle, Bujakowska, Kinga M, Léveillard, Thierry, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Germain, Aurore, Antonio, Aline, Michiels, Christelle, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado 2012

RDH12 retinopathy: novel mutations and phenotypic description

por Mackay, Donna S., Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H., Li, Zheng, Wright, Genevieve A., Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A., Bhattacharya, Shomi S., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.
Publicado 2011