• Cromore Road, Coleraine Campus

    BT52 1SA Coleraine

    United Kingdom

  • 919 Citations
  • 14 h-Index
20102019
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Research Output 2010 2019

  • 919 Citations
  • 14 h-Index
  • 36 Article
  • 2 Conference contribution
  • 1 Abstract
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Article
2019
2 Citations (Scopus)

Capsid Engineering Overcomes Barriers Toward Adeno-Associated Virus Vector-Mediated Transduction of Endothelial Cells

Zhang, L., Rossi, A., Lange, L., Meumann, N., Koitzsch, U., Christie, K., Nesbit, M. A., Moore, T. C. B., Hacker, U. T., Morgan, M., Hoffmann, D., Zengel, J., Carette, J. E., Schambach, A., Salvetti, A., Odenthal, M. & Büning, H., 23 Sep 2019, In : Human Gene Therapy. 30, 10, p. 1284-1296 13 p.

Research output: Contribution to journalArticle

Dependovirus
Capsid
Endothelial Cells
Regenerative Medicine
Genetic Therapy

Effective in vivo topical delivery of siRNA and gene silencing in intact corneal epithelium using a modified cell penetrating peptide

Schiroli, D., Gomara, M. J., Maurizi, E., Atkinson, S. D., Mairs, L., Christie, K., Cobice, D., McCrudden, C. M., Nesbit, M. A., Haro, I. & Moore, T. C. B., 6 Sep 2019, In : Molecular Therapy - Nucleic Acids. 17, p. 891-906 16 p.

Research output: Contribution to journalArticle

Open Access
File
Cell-Penetrating Peptides
Corneal Epithelium
Gene Silencing
RNA Interference
Small Interfering RNA

Late-Onset Lattice Corneal Dystrophy Associated TGFBI p.H626R Mutation in Members of a Canadian Family

Chao-Shern, C., DeDionisio, L., Chan, C., Nesbit, M. A. & McMullen, C. B. T., 1 Dec 2019, In : Canadian Journal of Ophthalmology. 54, 6, p. e308-e311 4 p.

Research output: Contribution to journalArticle

Transforming Growth Factor beta
Mutation
Laser In Situ Keratomileusis
Ophthalmology
Germany

Quantitative assessment of the conjunctival microcirculation using a smartphone and slit-lamp biomicroscope

Brennan, P., McNeil, A., Jing, M., Awuah, A., Finlay, D., Blighe, K., McLaughlin, J., Wang, R., Moore, J., Nesbit, M. A., Trucco, E., Spence, M. & Moore, T. C. B., 1 Nov 2019, In : Microvascular Research. 126, p. 1-9 9 p., 103907.

Research output: Contribution to journalArticle

Microcirculation
Smartphones
Hemodynamics
Electric lamps
Blood Volume
2018

An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

Esapa, C. T., Piret, S. E., Nesbit, M. A., Thomas, G., Coulton, L., Kumar, S., Mallon, A-M., Bellatuono, I., Brown, M., Croucher, P., Potter, P., Brown, S. DM., Cox, R. D. & Thakker, R. V., 8 Mar 2018, In : JBMR Plus. 2, 3, p. 154-163

Research output: Contribution to journalArticle

Ethylnitrosourea
Lumbar Vertebrae
Pseudogenes
Spine
Exons
1 Citation (Scopus)

A novel role for CRIM1 in the corneal response to UV and pterygium development

Maurizi, E., Schiroli, D., Atkinson, SD., Mairs, L., Courtney, D., O'Hagan, B., McGilligan, V. E., Pagnamenta, A. T., Taylor, J. C., Vasquez, J. J. D., Illanes-Velarde, D. E., Goldsmith, D., Gouws, P., Moore, J., Nesbit, M. A. & Moore, T. C. B., 24 Oct 2018, In : Experimental Eye Research. YEXER_2018_435_R1.

Research output: Contribution to journalArticle

Open Access
File
Pterygium
Exome
Phosphorylation
Cornea
Cell Proliferation

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing

Chao-Shern, C., Dedionisio, L., Jang, J-H., Chan, C. C., Thompson, V., Christie, K., Nesbit, M. A. & Moore, T. C. B., 29 Dec 2018, In : EYE.

Research output: Contribution to journalArticle

Molecular Diagnostic Techniques
Mutation
Hereditary Corneal Dystrophies
Laser In Situ Keratomileusis
Mutation Rate
2 Citations (Scopus)

Gene editing in the context of an increasingly complex genome

Blighe, K., DeDionisio, L., Christie, K., Chawes, B., Shareef, S., Kakouli-Duarte, T., Chao-Shern, C., Harding, V., Kelly, R. S., Stebbing, J., Castellano, L., Lasky-Su, J. A., Nesbit, M. A. & Moore, T. C. B., 8 Aug 2018, In : BMC Genomics. 19, 595, p. 595 20 p.

Research output: Contribution to journalArticle

Open Access
File
Genome
Human Genome
DNA
Clustered Regularly Interspaced Short Palindromic Repeats
RNA
3 Citations (Scopus)

Optical zone enlargement and recentration after previous myopic LASIK by topography-guided custom ablation

Reinstein, D. Z., Carp, G., Archer, T., Stuart, AL., Rowe, EL., Nesbit, A. & Moore, T., 28 Jan 2018, In : Journal of Refractive Surgery. 34, 2, p. 121-130

Research output: Contribution to journalArticle

Open Access
7 Citations (Scopus)

Personalised genome editing – The future for corneal dystrophies

Moore, C. B. T., Christie, K. A., Marshall, J. & Nesbit, M. A., 31 Jan 2018, In : Progress in Retinal and Eye Research. 1

Research output: Contribution to journalArticle

Open Access
2017

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation

Howles, S. A., Hannan, F. M., Gorvin, C. M., Piret, S. E., Paudyal, A., Stewart, M., Hough, T. A., Nesbit, M. A., Wells, S., Brown, S. D. M., Cox, R. D. & Thakker, R. V., 19 Oct 2017, In : JCI Insight. 2, 20, p. 1-14 14 p.

Research output: Contribution to journalArticle

Open Access
File
Protein Subunits
Hypercalcemia
GTP-Binding Proteins
Parathyroid Hormone
Calcium-Sensing Receptors

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Gorvin, C. M., Hannan, F. M., Howles, S. A., Babinsky, V. N., Piret, S. E., Rogers, A., Freidin, A. J., Stewart, M., Paudyal, A., Hough, T. A., Nesbit, M. A., Wells, S., Vincent, T. L., Brown, S. D. M., Cox, R. D. & Thakker, R. V., 9 Feb 2017, In : JCI Insight. 2, 3, p. 1-16 16 p.

Research output: Contribution to journalArticle

Open Access
File
Hypocalcemia
Protein Subunits
GTP-Binding Proteins
Mutation
Calcium-Sensing Receptors
17 Citations (Scopus)

Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

Piret, S. E., Olinger, E., Reed, A. A. C., Nesbit, M. A., Hough, T. A., Bentley, L., Devuyst, O., Cox, R. & Thakker, R. V., 7 Jun 2017, In : Disease Models and Mechanisms. 10, p. 773-786

Research output: Contribution to journalArticle

Open Access
File
7 Citations (Scopus)

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy

Babinsky, V. N., Hannan, F. M., Ramracheya, R., Zhang, Q., Nesbit, M. A., Hugill, A., Bentley, L., Hough, T. A., Joynson, E., Stewart, M., Aggarwal, A., Priz-Wohigenannt, M., Gorvin, C. M., Kallay, E., Wells, S., Cox, R. D., Richards, D., Rorsman, P. & Thakker, R. V., 1 Aug 2017, In : Endocrinology. 158, 8, p. 2486-2502 17 p.

Research output: Contribution to journalArticle

Open Access
File
Calcium-Sensing Receptors
Hyperglycemia
Glucose Intolerance
Islets of Langerhans
Glucose
2 Citations (Scopus)

Post-LASIK Exacerbation of Granular Corneal Dystrophy Type 2 in Members of a Chinese Family

Chao-Shern, C., Me, R., DeDionisio, L., Ke, B., Nesbit, M. A., Marshall, J. & Moore, CB. T., 1 Dec 2017, In : EYE. p. 1-5

Research output: Contribution to journalArticle

Open Access
Laser In Situ Keratomileusis
Genetic Testing
Mutation
Codon
Exons
16 Citations (Scopus)

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders

Christie, K., Courtney, D., De Dionisio, L., Chao Shern, C., De Majumdar, S., Mairs, L., Nesbit, A. & Moore, T., 23 Nov 2017, In : Scientific Reports. 7, 1, 11 p., 16174.

Research output: Contribution to journalArticle

Open Access
File
Clustered Regularly Interspaced Short Palindromic Repeats
Alleles
Single Nucleotide Polymorphism
Corneal Epithelium
Inborn Genetic Diseases
7 Citations (Scopus)

Vision Quality and Performance comparison between two refractive rotationally asymmetric multifocal intraocular lenses

McNeely, R., Pazo, E., Spence, A., Richoz, O., Nesbit, A., Moore, T. & Moore, J., 19 Sep 2017, In : Journal of Cataract and Refactive Surgery. 43, p. 1020-1026

Research output: Contribution to journalArticle

Open Access
File
2016
14 Citations (Scopus)

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

Gorvin, C. M., Cranston, T., Hannan, F. M., Rust, N., Qureshi, A., Nesbit, M. A. & Thakker, R. V., 6 Feb 2016, In : Journal of Bone and Mineral Research. 31, 6, p. 1200-1206

Research output: Contribution to journalArticle

Open Access
File
Calcium-Sensing Receptors
Protein Subunits
GTP-Binding Proteins
Mutation
Sigma Factor
18 Citations (Scopus)

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders

Babinsky, V. N., Hannan, F. M., Gorvin, C. M., Howles, S. A., Nesbit, M. A., Rust, N., Hanyaloglu, A. C., Hu, J., Spiegel, A. M. & Thakker, R. V., 13 May 2016, In : Journal of Biological Chemistry. 291, 20, p. 10876-10885

Research output: Contribution to journalArticle

Open Access
File
21 Citations (Scopus)

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Piret, S. E., Gorvin, C. M., Pagnamenta, A. T., Howles, S. A., Cranston, T., Rust, N., Nesbit, M. A., Glaser, B., Taylor, J. C., Buchs, A. E., Hannan, F. M. & Thakker, R. V., 28 Jan 2016, In : Journal of Bone and Mineral Research. 31, 6, p. 1207-1214

Research output: Contribution to journalArticle

Open Access
File
Protein Subunits
GTP-Binding Proteins
Mutation
Calcium-Sensing Receptors
Keratoconus
4 Citations (Scopus)
Open Access
3 Citations (Scopus)

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

Esapa, C. T., Piret, S. E., Nesbit, M. A., Loh, N. Y., Thomas, G., Croucher, P. I., Brown, M. A., Brown, S. D. M., Cox, R. D. & Thakker, R. V., 13 Dec 2016, In : PLoS ONE. 11, 12, p. e0167916

Research output: Contribution to journalArticle

Open Access
File
N-ethyl-N-nitrosourea
Ethylnitrosourea
Natriuretic Peptides
Kyphosis
Peptide Receptors
7 Citations (Scopus)

Threshold limit of postoperative astigmatism for patient satisfaction after refractive lens exchange and multifocal intraocular lens implantation

McNeely, R., Pazo, E., Millar, Z., Richoz, O., Nesbit, M. A., Moore, C. B. T. & Moore, J. E., 13 Aug 2016, In : Journal of Cataract and Refractive Surgery. 42, 8, p. 1126-1134

Research output: Contribution to journalArticle

Open Access
File
2015
30 Citations (Scopus)

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

Hannan, F. M., Howles, S. A., Rogers, A., Cranston, T., Gorvin, C. M., Babinsky, V. N., Reed, A. A., Thakker, C. E., Bockenhauer, D., Brown, R. S., Connell, J. M., Cook, J., Darzy, K., Ehtisham, S., Graham, U., Hulse, T., Hunter, S. J., Izatt, L., Kumar, D., McKenna, M. J. & 16 othersMcKnight, J. A., Morrison, P. J., Mughal, M. Z., O'Halloran, D., Pearce, S. H., Porteous, M. E., Rahman, M., Richardson, T., Robinson, R., Scheers, I., Siddique, H., van't Hoff, W. G., Wang, T., Whyte, M. P., Nesbit, M. A. & Thakker, R. V., 15 Sep 2015, In : Human Molecular Genetics. 24, 18, p. 5079-5092 13 p., ddv226.

Research output: Contribution to journalArticle

Open Access
Sigma Factor
Genetic Association Studies
Codon
Calcium-Sensing Receptors
Mutation
45 Citations (Scopus)

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

Courtney, D. G., Moore, J. E., Atkinson, S., Maurizi, E., Allen, E. H. A., Pedrioli, D. M. L., McLean, W. H. I., Nesbit, M. A. & Moore, T., 20 Aug 2015, In : Gene Therapy. 23, p. 108-112 5 p.

Research output: Contribution to journalArticle

Open Access
Clustered Regularly Interspaced Short Palindromic Repeats
Guide RNA
DNA Cleavage
Juvenile Epithelial of Meesmann Corneal Dystrophy
Single Nucleotide Polymorphism
152 Citations (Scopus)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J-B., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S., Allan, C., Aricescu, A. R., Attar, M., Babbs, C., Becq, J., Beeson, D., Bento, C., Bignell, P., Blair, E., Buckle, V. J., Bull, K. & 90 othersCais, O., Cario, H., Chapel, H., Copley, R. R., Cornall, R., Craft, J., Dahan, K., Davenport, E. E., Dendrou, C., Devuyst, O., Fenwick, A. L., Flint, J., Fugger, L., Gilbert, R. D., Goriely, A., Green, A., Greger, I. H., Grocock, R., Gruszczyk, A. V., Hastings, R., Hatton, E., Higgs, D., Hill, A., Holmes, C., Howard, M., Hughes, L., Humburg, P., Johnson, D., Karpe, F., Kingsbury, Z., Kini, U., Knight, J. C., Krohn, J., Lamble, S., Langman, C., Lonie, L., Luck, J., McCarthy, D., McGowan, S. J., McMullin, M. F., Miller, K. A., Murray, L., Németh, A. H., Nesbit, M. A., Nutt, D., Ormondroyd, E., Oturai, A. B., Pagnamenta, A., Patel, S. Y., Percy, M., Petousi, N., Piazza, P., Piret, S. E., Polanco-Echeverry, G., Popitsch, N., Powrie, F., Pugh, C., Quek, L., Robbins, P. A., Robson, K., Russo, A., Sahgal, N., van Schouwenburg, P. A., Schuh, A., Silverman, E., Simmons, A., Sørensen, P. S., Sweeney, E., Taylor, J., Thakker, R. V., Tomlinson, I., Trebes, A., Twigg, S. R. F., Uhlig, H. H., Vyas, P., Vyse, T., Wall, S. A., Watkins, H., Whyte, M. P., Witty, L., Wright, B., Yau, C., Buck, D., Humphray, S., Ratcliffe, P. J., Bell, J. I., Wilkie, A. O. M., Bentley, D., Donnelly, P. & McVean, G., 18 May 2015, In : Nature Genetics. 47, 7, p. 717-26

Research output: Contribution to journalArticle

Genome
Referral and Consultation
Databases
Genes
17 Citations (Scopus)

Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

Courtney, D. G., Toftgaard Poulsen, E., Kennedy, S., Moore, J. E., Atkinson, S., Maurizi, E., Nesbit, M. A., Moore, T. & Enghild, J. J., 2015, In : INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56, 8, p. 4653-4661 8 p.

Research output: Contribution to journalArticle

Open Access
Amyloid
Peptide Hydrolases
Phenotype
Mutation
Proteins
30 Citations (Scopus)

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).

Hannan, F. M., Walls, G. V., Babinsky, V. N., Nesbit, M. A., Kallay, E., Hough, T. A., Fraser, W. D., Cox, R. D., Hu, J., Spiegel, A. M. & Thakker, R. V., 2015, In : Endocrinology. 156, 9, p. 3114-21

Research output: Contribution to journalArticle

Calcium-Sensing Receptors
Hypocalcemia
Mutation
Calcium
HEK293 Cells
2014
14 Citations (Scopus)

An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.

Bentley, L., Esapa, C. T., Nesbit, M. A., Head, R. A., Evans, H., Lath, D., Scudamore, C. L., Hough, T. A., Podrini, C., Hannan, F. M., Fraser, W. D., Croucher, P. I., Brown, M. A., Brown, S. D. M., Cox, R. D. & Thakker, R. V., 2014, In : Endocrinology. 155, 3, p. 908-22

Research output: Contribution to journalArticle

Ethylnitrosourea
Corticotropin-Releasing Hormone
Glucocorticoids
Mutation
Cushing Syndrome
13 Citations (Scopus)

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers, A., Nesbit, M. A., Hannan, F. M., Howles, S. A., Gorvin, C. M., Cranston, T., Allgrove, J., Bevan, J. S., Bano, G., Brain, C., Datta, V., Grossman, A. B., Hodgson, S. V., Izatt, L., Millar-Jones, L., Pearce, S. H., Robertson, L., Selby, P. L., Shine, B., Snape, K. & 2 othersWarner, J. & Thakker, R. V., 2014, In : The Journal of clinical endocrinology and metabolism. 99, 7, p. E1300-5

Research output: Contribution to journalArticle

Sigma Factor
Genes
Proteins
Familial Hypercalciuric Hypocalcemia
10 Citations (Scopus)

Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.

Zhang, C., Mulpuri, N., Hannan, F. M., Nesbit, M. A., Thakker, R. V., Hamelberg, D., Brown, E. M. & Yang, J. J., 2014, In : PLoS ONE. 9, 11, p. e113622

Research output: Contribution to journalArticle

Droseraceae
Calcium-Sensing Receptors
mutation
calcium
mutants
2013
180 Citations (Scopus)

Mutations Affecting G-Protein Subunit α11in Hypercalcemia and Hypocalcemia

Nesbit, M. A., Hannan, F. M., Howles, S. A., Babinsky, V. N., Head, R. A., Cranston, T., Rust, N., Hobbs, M. R., Heath, H. & Thakker, R. V., 2013, In : New England Journal of Medicine. 368, 26, p. 2476

Research output: Contribution to journalArticle

Open Access
2012
89 Citations (Scopus)

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Hannan, F. M., Nesbit, A., 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. & 6 othersMughal, Z., Rodda, C., Tollefsen, S., Brown, E. M., Yang, J. J. & Thakker, R. V., 2012, In : Human Molecular Genetics. 21, 12, p. 2768

Research output: Contribution to journalArticle

Open Access
137 Citations (Scopus)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Nesbit, A., Hannan, F. M., Howles, S. A., Reed, A. A. C., Cranston, T., Thakker, C. E., Gregory, L., Rimmer, A. J., Rust, N., Graham, U., Morrison, P. J., Hunter, S. J., Whyte, M. P., McVean, G., Buck, D. & Thakker, R. V., 2012, In : Nature Genetics. 45, 1, p. 93

Research output: Contribution to journalArticle

Open Access
2010
66 Citations (Scopus)

Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2

Grigorieva, I. V., Mirczuk, S., Gaynor, K. U., Nesbit, A., Grigorieva, E. F., Wei, Q., Ali, A., Fairclough, R. J., Stacey, J. M., Stechman, M. J., Mihai, R., Kurek, D., Fraser, W. D., Hough, T., Condie, B. G., Manley, N., Grosveld, F. & Thakker, R. V., 2010, In : Journal of Clinical Investigation. 120, 6, p. 2144

Research output: Contribution to journalArticle

Open Access