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All Outputs (134)

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract (2020)
Journal Article
Berry, V., Pontikos, N., Dudakova, L., Moore, A. T., Quinlan, R., Liskova, P., & Michaelides, M. (2020). A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genetics, 41(2), 131-134. https://doi.org/10.1080/13816810.2020.1737950

Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolat... Read More about A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.

Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity (2019)
Journal Article
Battaglia, R. A., Beltran, A. S., Delic, S., Dumitru, R., Robinson, J. A., Kabiraj, P., Herring, L. E., Madden, V. J., Ravinder, N., Willems, E., Newman, R. A., Quinlan, R. A., Goldman, J. E., Perng, M.-D., Inagaki, M., & Snider, N. T. (2019). Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity. eLife, 8, Article e47789. https://doi.org/10.7554/elife.47789

Alexander Disease (AxD) is a fatal neurodegenerative disorder caused by mutations in glial fibrillary acidic protein (GFAP), which supports the structural integrity of astrocytes. Over 70 GFAP missense mutations cause AxD, but the mechanism linking d... Read More about Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity.

Inverse dose-rate effect of ionising radiation on residual 53BP1 foci in the eye lens (2019)
Journal Article
Barnard, S., McCarron, R., Moquet, J., Quinlan, R., & Ainsbury, E. (2019). Inverse dose-rate effect of ionising radiation on residual 53BP1 foci in the eye lens. Scientific Reports, 9, Article 10418. https://doi.org/10.1038/s41598-019-46893-3

The influence of dose rate on radiation cataractogenesis has yet to be extensively studied. One recent epidemiological investigation suggested that protracted radiation exposure increases radiation-induced cataract risk: cumulative doses of radiation... Read More about Inverse dose-rate effect of ionising radiation on residual 53BP1 foci in the eye lens.

BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability (2019)
Journal Article
Tapodi, A., Clemens, D., Uwineza, A., Goldberg, M., Thinon, E., Heal, W., Tate, E., Nemeth-Cahalan, K., Vorontsova, I., Jarrin, M., Hall, J., & Quinlan, R. (2019). BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability. Experimental Eye Research, 185, Article 107585. https://doi.org/10.1016/j.exer.2019.02.001

BFSP1 (beaded filament structural protein 1, filensin) is a cytoskeletal protein expressed in the eye lens. It binds AQP0 in vitro and its C-terminal sequences have been suggested to regulate the water channel activity of AQP0. A myristoylated fragme... Read More about BFSP1 C-terminal domains released by post-translational processing events can alter significantly the calcium regulation of AQP0 water permeability.

Cataractogenic load – a concept to study the contribution of ionizing radiation to accelerated aging in the eye lens (2019)
Journal Article
Uwineza, A., Kalligeraki, A. A., Hamada, N., Jarrin, M., & Quinlan, R. A. (2019). Cataractogenic load – a concept to study the contribution of ionizing radiation to accelerated aging in the eye lens. Mutation Research/Reviews in Mutation Research, 779, 68-81. https://doi.org/10.1016/j.mrrev.2019.02.004

Ionizing radiation (IR) damages DNA and other macromolecules, including proteins and lipids. Most cell types can repair DNA damage and cycle continuously their macromolecules as a mechanism to remove defective proteins and lipids. In those cells that... Read More about Cataractogenic load – a concept to study the contribution of ionizing radiation to accelerated aging in the eye lens.

Heat shock proteins are differentially expressed in brain and spinal cord: implications for multiple sclerosis (2018)
Journal Article
Gorter, R. P., Nutma, E., Jahreiβ, M.-C., de Jonge, J. C., Quinlan, R., van der Valk, P., van Noort, J. M., Baron, W., & Amor, S. (2018). Heat shock proteins are differentially expressed in brain and spinal cord: implications for multiple sclerosis. Clinical and Experimental Immunology, 194(2), 137-152. https://doi.org/10.1111/cei.13186

Aims: Multiple sclerosis (MS) is a chronic neurodegenerative disease characterised by demyelination, inflammation and neurodegeneration throughout the central nervous system. Although spinal cord pathology is an important factor contributing to disea... Read More about Heat shock proteins are differentially expressed in brain and spinal cord: implications for multiple sclerosis.

Non-invasive in vivo quantification of the developing optical properties and graded index of the embryonic eye lens using SPIM (2018)
Journal Article
Young, L., Jarrin, M., Saunter, C., Quinlan, R., & Girkin, J. (2018). Non-invasive in vivo quantification of the developing optical properties and graded index of the embryonic eye lens using SPIM. Biomedical Optics Express, 9(5), 2176-2188. https://doi.org/10.1364/boe.9.002176

Graded refractive index lenses are inherent to advanced visual systems in animals. By understanding their formation and local optical properties, significant potential for improved ocular healthcare may be realized. We report a novel technique measur... Read More about Non-invasive in vivo quantification of the developing optical properties and graded index of the embryonic eye lens using SPIM.

A rim-and-spoke hypothesis to explain the biomechanical roles for cytoplasmic intermediate filament networks (2017)
Journal Article
Quinlan, R., Schwartz, N., Windoffer, R., Richardson, C., Hawkins, T., Broussard, J., …Leube, R. (2017). A rim-and-spoke hypothesis to explain the biomechanical roles for cytoplasmic intermediate filament networks. Journal of Cell Science, 130(20), 3437-3445. https://doi.org/10.1242/jcs.202168

Textbook images of keratin intermediate filament (IF) networks in epithelial cells and the functional compromization of the epidermis by keratin mutations promulgate a mechanical role for this important cytoskeletal component. In stratified epithelia... Read More about A rim-and-spoke hypothesis to explain the biomechanical roles for cytoplasmic intermediate filament networks.

αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments (2017)
Journal Article
Sharma, S., Conover, G., Elliott, J., Perng, M., Herrmann, H., & Quinlan, R. (2017). αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments. Cell Stress and Chaperones, 22(4), 613-626. https://doi.org/10.1007/s12192-017-0788-7

Mutations in the small heat shock protein chaperone CRYAB (αB-crystallin/HSPB5) and the intermediate filament protein desmin, phenocopy each other causing cardiomyopathies. Whilst the binding sites for desmin on CRYAB have been determined, desmin epi... Read More about αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.

The functional roles of the unstructured N- and C-terminal regions in alphaB-crystallin and other mammalian small heat-shock proteins (2017)
Journal Article
Carver, J., Grosas, A., Ecroyd, H., & Quinlan, R. (2017). The functional roles of the unstructured N- and C-terminal regions in alphaB-crystallin and other mammalian small heat-shock proteins. Cell Stress and Chaperones, 22(4), 627-638. https://doi.org/10.1007/s12192-017-0789-6

Small heat-shock proteins (sHsps), such as αB-crystallin, are one of the major classes of molecular chaperone proteins. In vivo, under conditions of cellular stress, sHsps are the principal defence proteins that prevent large-scale protein aggregatio... Read More about The functional roles of the unstructured N- and C-terminal regions in alphaB-crystallin and other mammalian small heat-shock proteins.

The impact of circadian rhythms on medical imaging and radiotherapy regimes for the paediatric patient (2016)
Journal Article
Forssell-Aronsson, E., & Quinlan, R. (2017). The impact of circadian rhythms on medical imaging and radiotherapy regimes for the paediatric patient. Radiation Protection Dosimetry, 173(1-3), 16-20. https://doi.org/10.1093/rpd/ncw328

Daily rhythmic changes are found in cellular events in cell cycle, DNA repair, apoptosis and angiogenesis in both normal and tumour tissue, as well as in enzymatic activity and drug metabolism. In this paper, we hypothesize that circadian rhythms nee... Read More about The impact of circadian rhythms on medical imaging and radiotherapy regimes for the paediatric patient.

Biophysical dissection of schistosome septins: Insights into oligomerization and membrane binding (2016)
Journal Article
Zeraik, A., Staykova, M., Fontes, M., Nemuraitė, I., Quinlan, R., Araújo, A., & DeMarco, R. (2016). Biophysical dissection of schistosome septins: Insights into oligomerization and membrane binding. Biochimie, 131, 96-105. https://doi.org/10.1016/j.biochi.2016.09.014

Septins are GTP-binding proteins that are highly conserved among eukaryotes and which are usually membrane-associated. They have been linked to several critical cellular functions such as exocytosis and ciliogenesis, but little mechanistic detail is... Read More about Biophysical dissection of schistosome septins: Insights into oligomerization and membrane binding.

The Lipidation Profile of Aquaporin-0 Correlates with The Acyl Composition of Phosphoethanolamine Lipids in Lens Membranes (2016)
Journal Article
Ismail, V. S., Mosely, J. A., Tapodi, A., Quinlan, R. A., & Sanderson, J. M. (2016). The Lipidation Profile of Aquaporin-0 Correlates with The Acyl Composition of Phosphoethanolamine Lipids in Lens Membranes. BBA - Biomembranes, 1858(11), 2763-2768. https://doi.org/10.1016/j.bbamem.2016.06.026

The lens fiber major intrinsic protein (otherwise known as aquaporin-0 (AQP0), MIP26 and MP26) has been examined by mass spectrometry (MS) in order to determine the speciation of acyl modifications to the side chains of lysine residues and the N-term... Read More about The Lipidation Profile of Aquaporin-0 Correlates with The Acyl Composition of Phosphoethanolamine Lipids in Lens Membranes.

Sub-nanometre mapping of the aquaporin-water interface with multifrequency atomic force microscopy (2016)
Journal Article
Ricci, M., Quinlan, R., & Voïtchovsky, K. (2017). Sub-nanometre mapping of the aquaporin-water interface with multifrequency atomic force microscopy. Soft Matter, 13(1), 187-195. https://doi.org/10.1039/c6sm00751a

Aquaporins are integral membrane proteins that regulate the transport of water and small molecules in and out of the cell. In eye lens tissue, circulation of water, ions and metabolites is ensured by a microcirculation system in which aquaporin-0 (AQ... Read More about Sub-nanometre mapping of the aquaporin-water interface with multifrequency atomic force microscopy.

Small molecules, both dietary and endogenous, influence the onset of lens cataracts (2016)
Journal Article
Barnes, S., & Quinlan, R. (2016). Small molecules, both dietary and endogenous, influence the onset of lens cataracts. Experimental Eye Research, 156, 87-94. https://doi.org/10.1016/j.exer.2016.03.024

How the lens ages successfully is a lesson in biological adaption and the emergent properties of its complement of cells and proteins. This living tissue contains some of the oldest proteins in our bodies and yet they remain functional for decades, d... Read More about Small molecules, both dietary and endogenous, influence the onset of lens cataracts.

Radiation protection of the eye lens in medical workers—basis and impact of the ICRP recommendations (2016)
Journal Article
Barnard, S., Ainsbury, E., Quinlan, R., & Buffler, S. (2016). Radiation protection of the eye lens in medical workers—basis and impact of the ICRP recommendations. British Journal of Radiology, 89(1060), Article 20151034. https://doi.org/10.1259/bjr.20151034

The aim of this article was to explore the evidence for the revised European Union basic safety standard (BSS) radiation dose limits to the lens of the eye, in the context of medical occupational radiation exposures. Publications in the open literatu... Read More about Radiation protection of the eye lens in medical workers—basis and impact of the ICRP recommendations.

In vivo, Ex Vivo, and In VitroApproaches to Study IntermediateFilaments in the Eye Lens (2015)
Journal Article
Jarrin, M., Young, L., Wu, W., Girkin, J., & Quinlan, R. (2016). In vivo, Ex Vivo, and In VitroApproaches to Study IntermediateFilaments in the Eye Lens. Methods in enzymology, 568, 581-611. https://doi.org/10.1016/bs.mie.2015.09.010

The role of the eye lens is to focus light into the retina. To perform this unique function, the ocular lens must be transparent. Previous studies have demonstrated the expression of vimentin, BFSP1, and BFSP2 in the eye lens. These intermediate fila... Read More about In vivo, Ex Vivo, and In VitroApproaches to Study IntermediateFilaments in the Eye Lens.

A dimensionless ordered pull-through model of the mammalian lens epithelium evidences scaling across species and explains the age-dependent changes in cell density in the human lens (2015)
Journal Article
Wu, J., Wu, W., Tholozan, F., Saunter, C., Girkin, J., & Quinlan, R. (2015). A dimensionless ordered pull-through model of the mammalian lens epithelium evidences scaling across species and explains the age-dependent changes in cell density in the human lens. Journal of the Royal Society. Interface, 12(108), https://doi.org/10.1098/rsif.2015.0391

We present a mathematical (ordered pull-through; OPT) model of the cell-density profile for the mammalian lens epithelium together with new experimental data. The model is based upon dimensionless parameters, an important criterion for inter-species... Read More about A dimensionless ordered pull-through model of the mammalian lens epithelium evidences scaling across species and explains the age-dependent changes in cell density in the human lens.

The lens of the eye: exposures in the UK medical sector and mechanistic studies of radiation effects (2015)
Journal Article
Bouffler, S., Peters, S., Gilvin, P., Slack, K., Markiewicz, E., Quinlan, R., …Ainsbury, E. (2015). The lens of the eye: exposures in the UK medical sector and mechanistic studies of radiation effects. Annals of the ICRP, 44(1 Suppl), 84-90. https://doi.org/10.1177/0146645314560693

The recommendation from the International Commission on Radiological Protection that the occupational equivalent dose limit for the lens of the eye should be reduced to 20 mSv year−1, averaged over 5 years with no year exceeding 50 mSv, has stimulate... Read More about The lens of the eye: exposures in the UK medical sector and mechanistic studies of radiation effects.