Nicholas C. Owen

London, ENG EC1V9EL, United Kingdom

Last Updated: 09/26/2026

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Found 22 publications

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

Journal: Antioxidants (Basel, Switzerland)

Published: November 30, 2024

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

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

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: November 19, 2024

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.

Journal: Frontiers in cell and developmental biology

Published: October 14, 2024

A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

Journal: Clinical genetics

Published: July 10, 2024

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Journal: BMC genomics

Published: December 22, 2023

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.

Journal: Stem cell reports

Published: September 13, 2023

Identification of the regulatory circuit governing corneal epithelial fate determination and disease.

Identification of the regulatory circuit governing corneal epithelial fate determination and disease.

Journal: PLoS biology

Published: March 08, 2023

Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.

Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.

Journal: Biomolecules

Published: December 22, 2022

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina.

Journal: The Journal of pathology

Published: July 29, 2022

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 17, 2021

Ocular Phenotype Associated with DYRK1A Variants.

Ocular Phenotype Associated with DYRK1A Variants.

Journal: Genes

Published: January 20, 2021

EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.

EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.

Journal: International journal of molecular sciences

Published: January 06, 2021

Showing 1-12 of 22

Last Updated: 09/26/2026