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 em 2012

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 no Ann Hum Genet (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 no PLoS One (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 no Sci Rep (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 no PLoS One (2016)

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