All 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.

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family (2022)
Journal Article
Berry, V., Fujinami, K., Mochizuki, K., Iwata, T., Pontikos, N., Quinlan, R. A., & Michaelides, M. (2022). A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genetics, 43(5), 622-626. https://doi.org/10.1080/13816810.2022.2090010

Background Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible... Read More about A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Cluster analyses of the TCGA and a TMA dataset using the coexpression of HSP27 and CRYAB improves alignment with clinical-pathological parameters of breast cancer and suggests different epichaperome influences for each sHSP (2022)
Journal Article
Quinlan, P. R., Figeuredo, G., Mongan, N., Jordan, L. B., Bray, S. E., Sreseli, R., Ashfield, A., Mitsch, J., van den Ijssel, P., Thompson, A. M., & Quinlan, R. A. (2022). Cluster analyses of the TCGA and a TMA dataset using the coexpression of HSP27 and CRYAB improves alignment with clinical-pathological parameters of breast cancer and suggests different epichaperome influences for each sHSP. Cell Stress and Chaperones, 27(2), 177-188. https://doi.org/10.1007/s12192-022-01258-0

Our cluster analysis of the Cancer Genome Atlas for co-expression of HSP27 and CRYAB in breast cancer patients identified three patient groups based on their expression level combination (high HSP27+low CRYAB; low HSP27+high CRYAB; similar HSP27+CRYA... Read More about Cluster analyses of the TCGA and a TMA dataset using the coexpression of HSP27 and CRYAB improves alignment with clinical-pathological parameters of breast cancer and suggests different epichaperome influences for each sHSP.

The importance of the epithelial fibre cell interface to lens regeneration in an in vivo rat model and in a human bag-in-the-lens (BiL) sample (2021)
Journal Article
Wu, W., Lois, N., Prescott, A. R., Brown, A. P., Van Gerwen, V., Tassignon, M.-J., Richards, S. A., Saunter, C., Jarrin, M., & Quinlan, R. A. (2021). The importance of the epithelial fibre cell interface to lens regeneration in an in vivo rat model and in a human bag-in-the-lens (BiL) sample. Experimental Eye Research, 213, Article 108808. https://doi.org/10.1016/j.exer.2021.108808

Human lens regeneration and the Bag-in-the-Lens (BIL) surgical treatment for cataract both depend upon lens capsule closure for their success. Our studies suggest that the first three days after surgery are critical to their long-term outcomes. Using... Read More about The importance of the epithelial fibre cell interface to lens regeneration in an in vivo rat model and in a human bag-in-the-lens (BiL) sample.

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts (2021)
Journal Article
Berry, V., Pontikos, N., Ionides, A., Kalitzeos, A., Quinlan, R. A., & Michaelides, M. (2022). Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts. Ophthalmic Genetics, 43(2), 218-223. https://doi.org/10.1080/13816810.2021.1998556

Background: Congenital cataracts are the most common cause of visual impairment worldwide. Inherited cataract is a clinically and genetically heterogeneous disease. Here we report disease-causing variants in a novel gene, CYP21A2, causing autosomal d... Read More about Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts.

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts (2021)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2022). Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. Eye, 36(8), 1694-1701. https://doi.org/10.1038/s41433-021-01711-x

Background: Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies. Methods: Using whole exome... Read More about Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.

Lens Epithelial Cell Proliferation in Response to Ionizing Radiation (2021)
Journal Article
Barnard, S., Uwineza, A., Kalligeraki, A., McCarron, R., Kruse, F., Ainsbury, E., & Quinlan, R. (2021). Lens Epithelial Cell Proliferation in Response to Ionizing Radiation. Radiation research, 197(1), 92-99. https://doi.org/10.1667/rade-20-00294.1

Lens epithelial cell proliferation and differentiation are naturally well regulated and controlled, a characteristic essential for lens structure, symmetry and function. The effect of ionizing radiation on lens epithelial cell proliferation has been... Read More about Lens Epithelial Cell Proliferation in Response to Ionizing Radiation.

On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity (2021)
Journal Article
Pawliczek, D., Fuchs, H., Gailus-Durner, V., de Angelis, M. H., Quinlan, R., Graw, J., & Dalke, C. (2022). On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity. Radiation research, 197(1), 7-21. https://doi.org/10.1667/rade-20-00163.1

Ionizing radiation is widely known to induce various kinds of lens cataracts, of which posterior subcapsular cataracts (PSCs) have the highest prevalence. Despite some studies regarding the epidemiology and biology of radiation-induced PSCs, the mech... Read More about On the Nature of Murine Radiation-Induced Subcapsular Cataracts: Optical Coherence Tomography-Based Fine Classification, In Vivo Dynamics and Impact on Visual Acuity.

Joining European Scientific Forces to Face Pandemics (2020)
Journal Article
Vasconcelos, M. H., Alcaro, S., Arechavala-Gomeza, V., Baumbach, J., Borges, F., Brevini, T. A., Rivas, J. D. L., Devaux, Y., Hozak, P., Keinänen-Toivola, M. M., Lattanzi, G., Mohr, T., Murovska, M., Prusty, B. K., Quinlan, R. A., Pérez-Sala, D., Scheibenbogen, C., Schmidt, H. H., Silveira, I., Tieri, P., …Riganti, C. (2021). Joining European Scientific Forces to Face Pandemics. Trends in Microbiology, 29(2), 92-97. https://doi.org/10.1016/j.tim.2020.10.008

Despite the international guidelines on the containment of the coronavirus disease 2019 (COVID-19) pandemic, the European scientific community was not sufficiently prepared to coordinate scientific efforts. To improve preparedness for future pandemic... Read More about Joining European Scientific Forces to Face Pandemics.

The genetic landscape of crystallins in congenital cataract (2020)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Georgiou, M., Yu, J., Ocaka, L. A., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2020). The genetic landscape of crystallins in congenital cataract. Orphanet Journal of Rare Diseases, 15, Article 333. https://doi.org/10.1186/s13023-020-01613-3

Background: The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystalli... Read More about The genetic landscape of crystallins in congenital cataract.

Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization (2020)
Journal Article
Kalligeraki, A. A., Isted, A., Pal, R., Saunter, C., Girkin, J., Jarrin, M., Uwineza, A., Obara, B., & Quinlan, R. A. (2020). Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization. Scientific Reports, 10, Article 16898. https://doi.org/10.1038/s41598-020-73625-9

Organ and tissue development are highly coordinated processes; lens growth and functional integration into the eye (emmetropia) is a robust example. An epithelial monolayer covers the anterior hemisphere of the lens, and its organization is the key t... Read More about Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization.