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ARVO Annual Meeting Abstract June 2024

Spatial transcriptomics reveal isoform-specific patterns of TCF4 dysregulation in CTG18.1 expansion positive FECD case-derived corneal endothelial cells

Nihar Bhattacharyya; Christina Zarouchlioti; Jana Jedlickova; Lubica Dudakova; Pavlina Skalicka; Kirithika Muthusamy; Petra Liskova; Alison J Hardcastle; Stephen Tuft; Alice Davidson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):644.

ARVO Annual Meeting Abstract June 2024

Novel insights into Fuchs endothelial corneal dystrophy through genetic, demographic, and phenotypic correlations

Siyin Liu; Amanda Sadan; Anita Szabo; Nihar Bhattacharyya; Christina Zarouchlioti; Marcos Abreu Costa; Lubica Dudakova; Marc Ciosi; Pavlina Skalicka; Nikolas Pontikos; Catey Bunce; Darren Monckton; Kirithika Muthusamy; Petra Liskova; Stephen Tuft; Alice Davidson

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4229.

ARVO Annual Meeting Abstract June 2024

A cell-based assay to identify small molecules that enhance the traffic of ABCA4 misfolding variants.

Davide Piccolo; Christina Zarouchlioti; James Bellingham; Paul E Sladen; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6063.

ARVO Annual Meeting Abstract June 2022

CTG18.1-mediated Fuchs endothelial corneal dystrophy: characterizing biomarkers of pathogenicity in patients with rare intermediate triplet repeat expansions

Nihar Bhattacharyya; Amanda Sadan; Christina Zarouchlioti; Nathaniel Jordan Hafford-Tear; Kirithika Muthusamy; Alison J Hardcastle; Pavlina Skalicka; Petra Liskova; Stephen Tuft; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1588 – A0377.

ARVO Annual Meeting Abstract June 2022

A refined amplification-free long-read sequencing method to interrogate TCF4 triplet repeats associated with Fuchs endothelial corneal dystrophy

Christina Zarouchlioti; Nathaniel Jordan Hafford-Tear; Yu-Chih Tsai; Anita Szabo; Nihar Bhattacharyya; Amanda Sadan; Alison J Hardcastle; Petra Liskova; Nikolas Pontikos; Stephen Tuft; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2.

ARVO Annual Meeting Abstract June 2022

Investigation of ABCA4 missense variant plasma membrane trafficking in cell models.

Davide Piccolo; Christina Zarouchlioti; Jim Bellingham; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):672 – F0126.

ARVO Annual Meeting Abstract June 2021

CTG18.1-mediated Fuchs Endothelial Corneal Dystrophy: defining unique signatures of transcriptomic dysregulation

Nihar Bhattacharyya; Nathaniel Hafford-Tear; Amanda N Sadan; Christina Zarouchlioti; Kirithika Muthusamy; Petra Liskova; Stephen J Tuft; Alison J Hardcastle; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1454.

ARVO Annual Meeting Abstract June 2021

Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1

Nathaniel Hafford-Tear; Lubica Dudakova; Stephen J Tuft; Amanda N Sadan; Nihar Bhattacharyya; Christina Zarouchlioti; Alison J Hardcastle; Petra Liskova; Alice E Davidson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1450.

ARVO Annual Meeting Abstract July 2019

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

Alice E Davidson; Nathaniel J Hafford Tear; Yu-Chih Tsai; Amanda Sadan; Beatriz Sanchez-Pintado; Christina Zarouchlioti; Petra Liskova; Stephen J Tuft; Tyson A Clark; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6055.

ARVO Annual Meeting Abstract July 2018

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Alice E Davidson; Christina Zarouchlioti; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Pontus Klein; Petra Liskova; Kalyan Dulla; Kirithika Muthusamy; Lubica Dudakova; Pavlina Skalicka; Pirro G Hysi; Michael E. Cheetham; Stephen J. Tuft; Peter S Adamson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3022.

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