Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids.

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Bibliographic Details
Title: Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids.
Authors: Harding P; UCL Institute of Ophthalmology, EC1V 9EL London, UK., Owen N; UCL Institute of Ophthalmology, EC1V 9EL London, UK., Eintracht J; UCL Institute of Ophthalmology, EC1V 9EL London, UK., Cunha DL; UCL Institute of Ophthalmology, EC1V 9EL London, UK., Chan B; Roslin Institute, University of Edinburgh, EH25 9RG Edinburgh, UK., Rainger J; Roslin Institute, University of Edinburgh, EH25 9RG Edinburgh, UK., Moosajee M; UCL Institute of Ophthalmology, EC1V 9EL London, UK; Moorfields Eye Hospital NHS Foundation Trust, EC1V 9EL London, UK; Francis Crick Institute, NW1 1AT London, UK. Electronic address: m.moosajee@ucl.ac.uk.
Source: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2025 Aug; Vol. 1871 (6), pp. 167869. Date of Electronic Publication: 2025 Apr 23.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1879-260X
DOI:10.1016/j.bbadis.2025.167869