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Jump to: 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2010
Number of items: 30.

2018

Moore, C.B. Tara, Christie, Kathleen A, Marshall, John and Nesbit, M. Andrew (2018) Personalised genome editing – The future for corneal dystrophies. Progress in Retinal and Eye Research, 1 . [Journal article]

Reinstein, Dan Z, Carp, Glenn, Archer, Timothy, Stuart, AL, Rowe, EL, Nesbit, Andrew and Moore, Tara (2018) Optical zone enlargement and recentration after previous myopic LASIK by topography-guided custom ablation. Journal of Refractive Surgery, 34 (2). pp. 121-130. [Journal article]

2017

Chao-Shern, Connie, Me, Rao, DeDionisio, Lawrence, Ke, Bilian, Nesbit, M. Andrew, Marshall, John and Moore, CB Tara (2017) Post-LASIK Exacerbation of Granular Corneal Dystrophy Type 2 in Members of a Chinese Family. Eye, . . pp. 1-5. [Journal article]

Christie, Kathleen, Courtney, David, De Dionisio, Larry, Chao Shern, Connie, De Majumdar, Shyamasree, Mairs, Laura, Nesbit, Andrew and Moore, Tara (2017) Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders. Scientific Reports, 7 . [Journal article]

Gorvin, Caroline M., Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Piret, Sian E., Rogers, Angela, Freidin, Andrew J., Stewart, Michelle, Paudyal, Anju, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Vincent, Tonia L., Brown, Stephen D.M., Cox, Roger D. and Thakker, Rajesh V. (2017) Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy. JCI Insight, 2 (3). [Journal article]

Howles, Sarah A., Hannan, Fadil M., Gorvin, Caroline M., Piret, Sian E., Paudyal, Anju, Stewart, Michelle, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Brown, Stephen D.M., Cox, Roger D. and Thakker, Rajesh V. (2017) Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation. JCI Insight, 2 (20). [Journal article]

McNeely, Richard, Pazo, Eric, Spence, Andrew, Richoz, Olivier, Nesbit, Andrew, Moore, Tara and Moore, Johnny (2017) Vision Quality and Performance comparison between two refractive rotationally asymmetric multifocal intraocular lenses. Journal of Cataract and Refactive Surgery, 43 . pp. 1020-1026. [Journal article]

Piret, Sian E., Olinger, Eric, Reed, Anita A. C., Nesbit, M. Andrew, Hough, Tertius A., Bentley, Liz, Devuyst, Olivier, Cox, Roger and Thakker, Rajesh V. (2017) Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress. Disease Models & Mechanisms, 10 . pp. 773-786. [Journal article]

2016

Babinsky, Valerie N., Hannan, Fadil M., Gorvin, Caroline M., Howles, Sarah A., Nesbit, M. Andrew, Rust, Nigel, Hanyaloglu, Aylin C., Hu, Jianxin, Spiegel, Allen M. and Thakker, Rajesh V. (2016) Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders. Journal of Biological Chemistry, 291 (20). pp. 10876-10885. [Journal article]

Esapa, Christopher T., Piret, Sian E., Nesbit, M. Andrew, Loh, Nellie Y., Thomas, Gethin, Croucher, Peter I., Brown, Matthew A., Brown, Steve D. M., Cox, Roger D. and Thakker, Rajesh V. (2016) Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway. PLOS ONE, 11 (12). e0167916. [Journal article]

Gorvin, Caroline M, Cranston, Treena, Hannan, Fadil M, Rust, Nigel, Qureshi, Asjid, Nesbit, M. Andrew and Thakker, Rajesh V (2016) A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). Journal of Bone and Mineral Research, 31 (6). pp. 1200-1206. [Journal article]

McNeely, Richard, Pazo, Eric, Millar, Z, Richoz, Olivier, Nesbit, M. Andrew, Moore, C.B Tara and Moore, J.E (2016) Threshold limit of postoperative astigmatism for patient satisfaction after refractive lens exchange and multifocal intraocular lens implantation. Journal of Cataract and Refractive Surgery, 42 (8). pp. 1126-1134. [Journal article]

McNeely, Richard, Pazo, Eric, Spence, Andrew, Richoz, Olivier, Nesbit, M. Andrew, Moore, C.B Tara and Moore, J.E (2016) Comparison of the visual performance and quality of vision produced by combined symmetrical inferonasal near addition versus inferonasal / superotemporal placement of rotationally asymmetric refractive multifocal intraocular lenses. Journal of Cataract & Refractive Surgery, 42 (12). pp. 1721-1729. [Journal article]

Moore, Tara, Atkinson, Sarah, Schiroli, Davide and Nesbit, Andrew (2016) Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Human Molecular Genetics, 25 . [Journal article]

Piret, Sian E, Gorvin, Caroline M, Pagnamenta, Alistair T, Howles, Sarah A, Cranston, Treena, Rust, Nigel, Nesbit, M. Andrew, Glaser, Ben, Taylor, Jenny C, Buchs, Andreas E, Hannan, Fadil M and Thakker, Rajesh V (2016) Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). Journal of Bone and Mineral Research, 31 (6). pp. 1207-1214. [Journal article]

2015

Courtney, D G, Moore, J E, Atkinson, Sarah, Maurizi, E, Allen, E H A, Pedrioli, D M L, McLean, W H I, Nesbit, M. Andrew and Moore, Tara (2015) CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting. Gene Therapy, 23 (1). pp. 108-112. [Journal article]

Courtney, D.G, Moore, J.E, Atkinson, S.D, Allen, E.H.A, Pedrioli, D.M.L, McLean, W.H.I, Nesbit, M.A and Moore, C.B.T (2015) CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting. Gene Therapy, 20 (23). pp. 108-112. [Journal article]

Courtney, David G, Toftgaard Poulsen, Ebbe, Kennedy, Susan, Moore, Johnny E, Atkinson, Sarah, Maurizi, Eleonora, Nesbit, M. Andrew, Moore, Tara and Enghild, Jan J (2015) Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. Investigative ophthalmology & visual science, 56 (8). pp. 4653-61. [Journal article]

Hannan, Fadil M, Walls, Gerard V, Babinsky, Valerie N, Nesbit, M. Andrew, Kallay, Enikö, Hough, Tertius A, Fraser, William D, Cox, Roger D, Hu, Jianxin, Spiegel, Allen M and Thakker, Rajesh V (2015) The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1). Endocrinology, 156 (9). pp. 3114-21. [Journal article]

Hannan, Fadil M., Howles, Sarah A., Rogers, Angela, Cranston, Treena, Gorvin, Caroline M., Babinsky, Valerie N., Reed, Anita A., Thakker, Clare E., Bockenhauer, Detlef, Brown, Rosalind S., Connell, John M., Cook, Jacqueline, Darzy, Ken, Ehtisham, Sarah, Graham, Una, Hulse, Tony, Hunter, Steven J., Izatt, Louise, Kumar, Dhavendra, McKenna, Malachi J., McKnight, John A., Morrison, Patrick J., Mughal, M. Zulf, O'Halloran, Domhnall, Pearce, Simon H., Porteous, Mary E., Rahman, Mushtaqur, Richardson, Tristan, Robinson, Robert, Scheers, Isabelle, Siddique, Haroon, van't Hoff, William G., Wang, Timothy, Whyte, Michael P., Nesbit, M. Andrew and Thakker, Rajesh V. (2015) Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects. Human Molecular Genetics, 24 (18). pp. 5079-5092. [Journal article]

Moore, Tara, Atkinson, Sarah, Allen, Edwin, Moore, Johnny, Courtney, David, Maurizi, Eleonora, Nesbit, M. Andrew, McLean, WHI and Pedrioli, Deena Leslie (2015) In vivo gene silencing by siRNA delivery to the corneal epithelium in a keratin-12- bioluminescence mouse model. In: ARVO 2015, Denver, USA. Invest Ophthalmol Vis Sci. Vol 56 (7) 1 pp. [Conference contribution]

Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H, Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M. Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen R F, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew O M, Bentley, David, Donnelly, Peter and McVean, Gilean (2015) Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nature genetics, 47 (7). pp. 717-26. [Journal article]

2014

Bentley, Liz, Esapa, Christopher T, Nesbit, M. Andrew, Head, Rosie A, Evans, Holly, Lath, Darren, Scudamore, Cheryl L, Hough, Tertius A, Podrini, Christine, Hannan, Fadil M, Fraser, William D, Croucher, Peter I, Brown, Matthew A, Brown, Steve D M, Cox, Roger D and Thakker, Rajesh V (2014) An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess. Endocrinology, 155 (3). pp. 908-22. [Journal article]

Moore, Johnny, Courtney, David, Atkinson, Sarah, Maurizi, Eleanora, Nesbit, M. Andrew, Pellegrini, Graziella, Azar, Dimitri T, McLean, WHI and Moore, Tara (2014) Identifying the role of matrix metalloproteinases in the pathomechanism of TGFBI Arg124Cys related Lattice Corneal Dystrophy Type I. In: ARVO 2014, Orlando, USA. Invest Ophthalmol Vis Sci. Vol 55 (13) 1 pp. [Conference contribution]

Rogers, Angela, Nesbit, M. Andrew, Hannan, Fadil M, Howles, Sarah A, Gorvin, Caroline M, Cranston, Treena, Allgrove, Jeremy, Bevan, John S, Bano, Gul, Brain, Caroline, Datta, Vipan, Grossman, Ashley B, Hodgson, Shirley V, Izatt, Louise, Millar-Jones, Lynne, Pearce, Simon H, Robertson, Lisa, Selby, Peter L, Shine, Brian, Snape, Katie, Warner, Justin and Thakker, Rajesh V (2014) Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). The Journal of clinical endocrinology and metabolism, 99 (7). E1300-5. [Journal article]

Zhang, Chen, Mulpuri, Nagaraju, Hannan, Fadil M, Nesbit, M. Andrew, Thakker, Rajesh V, Hamelberg, Donald, Brown, Edward M and Yang, Jenny J (2014) Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations. PloS one, 9 (11). e113622. [Journal article]

2013

Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Head, Rosie A., Cranston, Treena, Rust, Nigel, Hobbs, Maurine R., Heath, Hunter and Thakker, Rajesh V. (2013) Mutations Affecting G-Protein Subunit α11in Hypercalcemia and Hypocalcemia. New England Journal of Medicine, 368 (26). p. 2476. [Journal article]

2012

Hannan, F. M., Nesbit, Andrew, Zhang, C., Cranston, T., Curley, A. J., Harding, B., Fratter, C., Rust, N., Christie, P. T., Turner, J. J. O., Lemos, M. C., Bowl, M. R., Bouillon, R., Brain, C., Bridges, N., Burren, C., Connell, J. M., Jung, H., Marks, E., McCredie, D., Mughal, Z., Rodda, C., Tollefsen, S., Brown, E. M., Yang, J. J. and Thakker, R. V. (2012) Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Human Molecular Genetics, 21 (12). p. 2768. [Journal article]

Nesbit, Andrew, Hannan, Fadil M, Howles, Sarah A, Reed, Anita A C, Cranston, Treena, Thakker, Clare E, Gregory, Lorna, Rimmer, Andrew J, Rust, Nigel, Graham, Una, Morrison, Patrick J, Hunter, Steven J, Whyte, Michael P, McVean, Gil, Buck, David and Thakker, Rajesh V (2012) Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nature Genetics, 45 (1). p. 93. [Journal article]

2010

Grigorieva, Irina V., Mirczuk, Samantha, Gaynor, Katherine U., Nesbit, Andrew, Grigorieva, Elena F., Wei, Qiaozhi, Ali, Asif, Fairclough, Rebecca J., Stacey, Joanna M., Stechman, Michael J., Mihai, Radu, Kurek, Dorota, Fraser, William D., Hough, Tertius, Condie, Brian G., Manley, Nancy, Grosveld, Frank and Thakker, Rajesh V. (2010) Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2. Journal of Clinical Investigation, 120 (6). p. 2144. [Journal article]

This list was generated on Sun Sep 15 01:38:37 2019 BST.