Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club Lecture

por Thaung, Caroline, Davidson, Alice E
Publicado 2022

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant

por Skalicka, Pavlina, Jedlickova, Jana, Horinek, Ales, Trkova, Marie, Davidson, Alice E., Tuft, Stephen J., Dudakova, Lubica, Liskova, Petra
Publicado 2022

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

por Dudakova, Lubica, Stranecky, Viktor, Piherova, Lenka, Palecek, Tomas, Pontikos, Nikolas, Kmoch, Stanislav, Skalicka, Pavlina, Vaneckova, Manuela, Davidson, Alice E., Liskova, Petra
Publicado 2021

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

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

por Brejchova, Kristyna, Dudakova, Lubica, Skalicka, Pavlina, Dobrovolny, Robert, Masek, Petr, Putzova, Martina, Moosajee, Mariya, Tuft, Stephen J., Davidson, Alice E., Liskova, Petra
Publicado 2019

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystroph...

por Dudakova, Lubica, Skalicka, Pavlina, Davidson, Alice E., Sadan, Amanda N., Chylova, Monika, Jahnova, Helena, Anteneova, Nicole, Tesarova, Marketa, Honzik, Tomas, Liskova, Petra
Publicado 2021

TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease

por Fautsch, Michael P., Wieben, Eric D., Baratz, Keith H., Bhattacharyya, Nihar, Sadan, Amanda N., Hafford-Tear, Nathaniel J., Tuft, Stephen J., Davidson, Alice E.
Publicado 2021

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

por Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Publicado 2010

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

por Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyson A., Davidson, Alice E.
Publicado 2019

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

por Borman, Arundhati Dev, Pearce, Laura R, Mackay, Donna S, Nagel-Wolfrum, Kerstin, Davidson, Alice E, Henderson, Robert, Garg, Sumedha, Waseem, Naushin H, Webster, Andrew R, Plagnol, Vincent, Wolfrum, Uwe, Farooqi, I Sadaf, Moore, Anthony T
Publicado 2014

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 2016

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 2018

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

por Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.
Publicado 2018

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

por Gardner, Jessica C, Liew, Gerald, Quan, Ying-Hua, Ermetal, Burcu, Ueyama, Hisao, Davidson, Alice E, Schwarz, Nele, Kanuga, Naheed, Chana, Ravinder, Maher, Eamonn R, Webster, Andrew R, Holder, Graham E, Robson, Anthony G, Cheetham, Michael E, Liebelt, Jan, Ruddle, Jonathan B, Moore, Anthony T, Michaelides, Michel, Hardcastle, Alison J
Publicado 2014

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

por Taylor, Alysha S, Barros, Dinis, Gobet, Nastassia, Schuepbach, Thierry, McAllister, Branduff, Aeschbach, Lorene, Randall, Emma L, Trofimenko, Evgeniya, Heuchan, Eleanor R, Barszcz, Paula, Ciosi, Marc, Morgan, Joanne, Hafford-Tear, Nathaniel J, Davidson, Alice E, Massey, Thomas H, Monckton, Darren G, Jones, Lesley, network, REGISTRY Investigators of the European Huntington’s disease, Xenarios, Ioannis, Dion, Vincent
Publicado 2022

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

por Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2014

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

por Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Publicado 2016

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

por Hardcastle, Alison J., Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J., Davidson, Alice E., Inglehearn, Chris F., Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne E. M., Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E. Rojas, Khawaja, Anthony P., Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart T. H., Geerards, Annette J. M., Haudum, Christoph W., Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J., Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S., Krauss, Ronald M., Theusch, Elisabeth, Charlesworth, Jac C., Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A., Richardson, Andrea J., Mitchell, Paul A., Taylor, Kent D., Melles, Ronald B., Aldave, Anthony J., Mills, Richard A., Cao, Ke, Chan, Elsie, Daniell, Mark D., Wang, Jie Jin, Rotter, Jerome I., Hewitt, Alex W., MacGregor, Stuart, Klaver, Caroline C. W., Ramdas, Wishal D., Craig, Jamie E., Iyengar, Sudha K., O’Brart, David, Jorgenson, Eric, Baird, Paul N., Rabinowitz, Yaron S., Burdon, Kathryn P., Hammond, Chris J., Tuft, Stephen J., Hysi, Pirro G.
Publicado 2021