Outputs (137)

Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort (2025)
Journal Article
Berry, V., Ponnekanti, M. B., Aychoua, N., Ionides, A., Tsika, C., Quinlan, R. A., & Michaelides, M. (2025). Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort. Genes, 16(5), Article 604. https://doi.org/10.3390/genes16050604

Background: This paper will identify the potential genetic causes of multimorbidity associated with autosomal dominant congenital cataract (ADCC). Methods: Whole exome sequencing (WES) was performed on 13 individuals affected with ADCC. Subsequent bi... Read More about Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.

A novel frameshift variant in BCOR causes congenital nuclear cataract (2024)
Journal Article
Berry, V., Ponnekanti, M. B., Pontikos, N., Quinlan, R. A., & Michaelides, M. (2024). A novel frameshift variant in BCOR causes congenital nuclear cataract. Ophthalmic Genetics, 45(6), 591-595. https://doi.org/10.1080/13816810.2024.2373248

Background
BCL6 co-repressor (BCOR) gene variants are involved in oculofaciocardiodental (OFCD) syndrome, acute myeloid leukaemia, renal tumours, and photoreceptor degenerative diseases. Here, we describe a British family with a pathogenic heterozyg... Read More about A novel frameshift variant in BCOR causes congenital nuclear cataract.

Inhibition of PDIs Downregulates Core LINC Complex Proteins, Promoting the Invasiveness of MDA-MB-231 Breast Cancer Cells in Confined Spaces In Vitro (2024)
Journal Article
Young, N., Gui, Z., Mustafa, S., Papa, K., Jessop, E., Ruddell, E., …Karakesisoglou, I. (2024). Inhibition of PDIs Downregulates Core LINC Complex Proteins, Promoting the Invasiveness of MDA-MB-231 Breast Cancer Cells in Confined Spaces In Vitro. Cells, 13(11), Article 906. https://doi.org/10.3390/cells13110906

Eukaryotic cells tether the nucleoskeleton to the cytoskeleton via a conserved molecular bridge, called the LINC complex. The core of the LINC complex comprises SUN-domain and KASH-domain proteins that directly associate within the nuclear envelope l... Read More about Inhibition of PDIs Downregulates Core LINC Complex Proteins, Promoting the Invasiveness of MDA-MB-231 Breast Cancer Cells in Confined Spaces In Vitro.

The major inducible small heat shock protein HSP20-3 in the tardigrade Ramazzottius varieornatus forms filament-like structures and is an active chaperone. (2023)
Journal Article
Al-Ansari, M., Fitzsimons, T., Wei, W., Goldberg, M. W., Kunieda, T., & Quinlan, R. A. (2024). The major inducible small heat shock protein HSP20-3 in the tardigrade Ramazzottius varieornatus forms filament-like structures and is an active chaperone. Cell Stress and Chaperones, 29(1), 51-65. https://doi.org/10.1016/j.cstres.2023.12.001

The tardigrade Ramazzottius varieornatus has remarkable resilience to a range of environmental stresses. In this study, we have characterised two members of the small heat shock protein (sHSP) family in R. varieornatus, HSP20-3 and HSP20-6. These are... Read More about The major inducible small heat shock protein HSP20-3 in the tardigrade Ramazzottius varieornatus forms filament-like structures and is an active chaperone..

The redox-responsive roles of intermediate filaments in cellular stress detection, integration and mitigation (2023)
Journal Article
Pérez-Sala, D., & Quinlan, R. A. (2024). The redox-responsive roles of intermediate filaments in cellular stress detection, integration and mitigation. Current Opinion in Cell Biology, 86, Article 102283. https://doi.org/10.1016/j.ceb.2023.102283

Intermediate filaments are critical for cell and tissue homeostasis and for stress responses. Cytoplasmic intermediate filaments form versatile and dynamic assemblies that interconnect cellular organelles, participate in signaling and protect cells a... Read More about The redox-responsive roles of intermediate filaments in cellular stress detection, integration and mitigation.

Evaluation of cataract formation in fish exposed to environmental radiation at Chernobyl and Fukushima (2023)
Journal Article
Lerebours, A., Regini, J., Quinlan, R. A., Wada, T., Pierscionek, B., Devonshire, M., …Smith, J. T. (2023). Evaluation of cataract formation in fish exposed to environmental radiation at Chernobyl and Fukushima. Science of the Total Environment, 902, Article 165957. https://doi.org/10.1016/j.scitotenv.2023.165957

Recent studies apparently finding deleterious effects of radiation exposure on cataract formation in birds and voles living near Chernobyl represent a major challenge to current radiation protection regulations. This study conducted an integrated ass... Read More about Evaluation of cataract formation in fish exposed to environmental radiation at Chernobyl and Fukushima.

Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family (2023)
Journal Article
Berry, V., Ionides, A., Georgiou, M., Quinlan, R. A., & Michaelides, M. (2023). Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family. BMJ Open Ophthalmology, 8(1), Article e001252. https://doi.org/10.1136/bmjophth-2023-001252

Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD). Methods WES was performed for un... Read More about Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family.

Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix (2023)
Journal Article
Jarrin, M., Kalligeraki, A. A., Uwineza, A., Cawood, C. S., Brown, A. P., Ward, E. N., Le, K., Freitag-Pohl, S., Pohl, E., Kiss, B., Tapodi, A., & Quinlan, R. A. (2023). Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix. Cells, 12(12), Article 1580. https://doi.org/10.3390/cells12121580

Background: BFSP1 (beaded filament structural protein 1) is a plasma membrane, Aqua- 21 porin 0 (AQP0/MIP)-associated intermediate filament protein expressed in the eye lens. BFSP1 is 22 myristoylated, a post-translation modification that requires ca... Read More about Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix.

Identification and quantification of ionising radiation-induced oxysterol formation in membranes of lens fibre cells (2022)
Journal Article
Uwineza, A., Cummins, I., Jarrin, M., Kalligeraki, A. K., Barnard, S., Mol, M., Degani, G., Altomare, A. A., Aldini, G., Schreurs, A., Balschun, D., Ainsbury, E. A., Dias, I. H., & Quinlan, R. A. (2023). Identification and quantification of ionising radiation-induced oxysterol formation in membranes of lens fibre cells. Advances in Redox Research, 7, Article 100057. https://doi.org/10.1016/j.arres.2022.100057

Ionising radiation (IR) is a cause of lipid peroxidation, and epidemiological data have revealed a correlation between exposure to IR and the development of eye lens cataracts. Cataracts remain the leading cause of blindness around the world. The pla... Read More about Identification and quantification of ionising radiation-induced oxysterol formation in membranes of lens fibre cells.

Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens (2022)
Journal Article
Quinlan, R. A., & Clark, J. I. (2022). Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens. Journal of Biological Chemistry, 298(11), Article 102537. https://doi.org/10.1016/j.jbc.2022.102537

In the human eye, a transparent cornea and lens combine to form the “refracton” to focus images on the retina. This requires the refracton to have a high refractive index “n,” mediated largely by extracellular collagen fibrils in the corneal stroma a... Read More about Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens.