The cone dysfunction syndromes

Por Aboshiha, Jonathan, Dubis, Adam M, Carroll, Joseph, Hardcastle, Alison J, Michaelides, Michel
Publicado no Br J Ophthalmol (2016)

Identification of three novel NHS mutations in families with Nance-Horan syndrome

Por Huang, Kristen M., Wu, Junhua, Brooks, Simon P., Hardcastle, Alison J., Lewis, Richard Alan, Stambolian, Dwight
Publicado em 2007

Investigation of SLA4A3 as a candidate gene for human retinal disease

Por Downs, Louise M., Webster, Andrew R., Moore, Anthony T., Michaelides, Michel, Ali, Robin R., Hardcastle, Alison J., Mellersh, Cathryn S.
Publicado no J Negat Results Biomed (2016)

Using induced pluripotent stems cells to understand retinal ciliopathy disease mechanisms and develop therapies

Por Parfitt, David A., Lane, Amelia, Ramsden, Conor, Jovanovic, Katarina, Coffey, Peter J., Hardcastle, Alison J., Cheetham, Michael E.
Publicado no Biochem Soc Trans (2016)

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Por Cheong, Sek-Shir, Hull, Sarah, Jones, Benjamin, Chana, Ravinder, Thornton, Nicole, Plagnol, Vincent, Moore, Anthony T, Hardcastle, Alison J
Publicado no Hum Genome Var (2017)

Blue cone monochromacy: Causative mutations and associated phenotypes

Por Gardner, Jessica C., Michaelides, Michel, Holder, Graham E., Kanuga, Naheed, Webb, Tom R., Mollon, John D., Moore, Anthony T., Hardcastle, Alison J.
Publicado em 2009

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

Por Brooks, Simon P., Coccia, Margherita, Tang, Hao R., Kanuga, Naheed, Machesky, Laura M., Bailly, Maryse, Cheetham, Michael E., Hardcastle, Alison J.
Publicado em 2010

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

Por Chapple, J Paul, Grayson, Celene, Hardcastle, Alison J, Bailey, Tracey A, Matter, Karl, Adamson, Peter, Graham, Catriona H, Willison, Keith R, Cheetham, Michael E
Publicado em 2003

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

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 em 2012

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

Por Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle, Alison J
Publicado no Eur J Hum Genet (2016)

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Por Schwarz, Nele, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A., Aguila, Monica, Thompson, Clare L., da Cruz, Lyndon, Coffey, Peter J., Chapple, J. Paul, Hardcastle, Alison J., Cheetham, Michael E.
Publicado no Hum Mol Genet (2017)

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins

Por Schwarz, Nele, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A., Aguila, Monica, Thompson, Clare L., da Cruz, Lyndon, Coffey, Peter J., Chapple, J. Paul, Hardcastle, Alison J., Cheetham, Michael E.
Publicado no Hum Mol Genet (2017)

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Por Cheong, Sek-Shir, Hentschel, Lisa, Davidson, Alice E., Gerrelli, Dianne, Davie, Rebecca, Rizzo, Roberta, Pontikos, Nikolas, Plagnol, Vincent, Moore, Anthony T., Sowden, Jane C., Michaelides, Michel, Snead, Martin, Tuft, Stephen J., Hardcastle, Alison J.
Publicado no Am J Hum Genet (2016)

Novel Mutations in the ZEB1 Gene Identified in Czech and British Patients With Posterior Polymorphous Corneal Dystrophy

Por Liskova, Petra, Tuft, Stephen J., Gwilliam, Rhian, Ebenezer, Neil D., Jirsova, Katerina, Prescott, Quincy, Martincova, Radka, Pretorius, Marike, Sinclair, Neil, Boase, David L., Jeffrey, Margaret J., Deloukas, Panos, Hardcastle, Alison J., Filipec, Martin, Bhattacharya, Shomi S.
Publicado em 2007

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Por Arno, Gavin, Carss, Keren J., Hull, Sarah, Zihni, Ceniz, Robson, Anthony G., Fiorentino, Alessia, Hardcastle, Alison J., Holder, Graham E., Cheetham, Michael E., Plagnol, Vincent, Moore, Anthony T., Raymond, F. Lucy, Matter, Karl, Balda, Maria S., Webster, Andrew R.
Publicado no Am J Hum Genet (2017)

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Por Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N., Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J., Cheetham, Michael E., Hardcastle, Alison J.
Publicado no Hum Mol Genet (2015)

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

Por Gardner, Jessica C., Webb, Tom R., Kanuga, Naheed, Robson, Anthony G., Holder, Graham E., Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D., Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A., Maher, Eamonn R., Cheetham, Michael E., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
Publicado em 2010

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

Por Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.
Publicado no Am J Hum Genet (2018)

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Por Webb, Tom R., Parfitt, David A., Gardner, Jessica C., Martinez, Ariadna, Bevilacqua, Dalila, Davidson, Alice E., Zito, Ilaria, Thiselton, Dawn L., Ressa, Jacob H.C., Apergi, Marina, Schwarz, Nele, Kanuga, Naheed, Michaelides, Michel, Cheetham, Michael E., Gorin, Michael B., Hardcastle, Alison J.
Publicado em 2012