M. Nesbit

Steve D. M. Brown, M. Brown, A. Boyde, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation

S. Wells, R. Cox, M. Stewart, 2017, JCI insight.

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

M. Nesbit, R. Thakker, T. Cranston, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

M. Nesbit, R. Thakker, F. Hannan, 2016, The New England journal of medicine.

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

J. Connell, S. Pearce, M. Porteous, 2015, Human molecular genetics.

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

S. Pearce, C. Brain, S. Hodgson, 2014, The Journal of clinical endocrinology and metabolism.

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome*

B. Harding, R. McWilliams, A. Nesbit, 2002, Journal of Biological Chemistry.

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.

I. Grigorieva, L. Gortner, M. Nesbit, 2009, The Journal of clinical endocrinology and metabolism.

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

R. Winter, A. Wilkie, P. Harper, 2001, The Journal of clinical endocrinology and metabolism.

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

C. López-Otín, S. Krane, B. Harding, 2005, The Journal of clinical investigation.

Whole-exome sequencing studies of nonfunctioning pituitary adenomas.

G. McVean, D. Buck, Lorna Gregory, 2013, The Journal of clinical endocrinology and metabolism.

A homozygous inactivating calcium‐sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

M. Nesbit, R. Thakker, R. Bouillon, 2010, Clinical endocrinology.

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

C. Brain, M. Nesbit, R. Thakker, 2010, The Journal of clinical endocrinology and metabolism.

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

F. Grosveld, I. Grigorieva, N. Manley, 2010, The Journal of clinical investigation.

Assessment of the conjunctival microcirculation for patients presenting with acute myocardial infarction compared to healthy controls

E. Trucco, D. Finlay, M. Nesbit, 2021, Scientific Reports.

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

R. Cox, O. Devuyst, Sian E. Piret, 2017, Disease Models & Mechanisms.

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

B. Harding, M. Nesbit, R. Thakker, 2003, The Journal of clinical endocrinology and metabolism.

MMP 13 mutation causes spondyloepimetaphyseal dysplasia , Missouri type ( SEMDMO )

C. López-Otín, S. Krane, B. Harding, 2005 .

Evaluation of the performance of a lateral flow device for quantitative detection of anti-SARS-CoV-2 IgG

James Alastair McLaughlin, M. Nesbit, R. Price, 2022, Clinical Immunology Communications.

CRISPR/Cas9 gene editing demonstrates metabolic importance of GPR55 in the modulation of GIP release and pancreatic beta cell function

M. Nesbit, C. Moore, P. Flatt, 2020, Peptides.

Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

K. Davies, A. Brookes, D. Porteous, 1995, Genomics.

Gene editing in the context of an increasingly complex genome

M. Nesbit, L. Castellano, J. Stebbing, 2018, BMC Genomics.

User experience of home-based AbC-19 SARS-CoV-2 antibody rapid lateral flow immunoassay test

James Alastair McLaughlin, R. Bond, M. Nesbit, 2022, Scientific Reports.

User experience analysis of AbC-19 Rapid Test via lateral flow immunoassays for self-administrated SARS-CoV-2 antibody testing

R. Bond, M. Nesbit, J. Mclaughlin, 2021, Scientific Reports.

GATA3 haplo-insufficiency causes human HDR syndrome

Rajesh V. Thakker, Koenraad Devriendt, Simone Schuffenhauer, 2000, Nature.

Effective In Vivo Topical Delivery of siRNA and Gene Silencing in Intact Corneal Epithelium Using a Modified Cell-Penetrating Peptide

M. Nesbit, I. Haro, Davide Schiroli, 2019, Molecular therapy. Nucleic acids.

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

Jonathan E. Moore, Jenny C. Taylor, M. Nesbit, 2019, Experimental eye research.

Gene editing for the cornea

M. Nesbit, C. Moore, 2022, CRISPR Genome Surgery in Stem Cells and Disease Tissues.

Personalised genome editing – The future for corneal dystrophies

M. Nesbit, C. Moore, J. Marshall, 2018, Progress in Retinal and Eye Research.

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

M. Nesbit, C. Moore, S. De Majumdar, 2017, Scientific Reports.

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

M. Nesbit, W. McLean, C. Moore, 2015, Gene Therapy.

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing

M. Nesbit, V. Thompson, L. DeDionisio, 2019, Eye.

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family

M. Nesbit, C. Moore, R. Me, 2017, Eye.

Gene Editing for Corneal Stromal Regeneration.

M. Nesbit, L. DeDionisio, T. Moore, 2020, Methods in molecular biology.

Visual outcomes and patient satisfaction 3 and 12 months after implantation of a refractive rotationally asymmetric multifocal intraocular lens.

Jonathan E. Moore, M. Nesbit, Eric E Pazo, 2017, Journal of cataract and refractive surgery.

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

R. Lovell-Badge, I. Grigorieva, Sian E. Piret, 2020, Endocrine connections.

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

G. McVean, D. Buck, Lorna Gregory, 2012, The Journal of clinical endocrinology and metabolism.

Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.

M. Nesbit, C. Moore, K. Blighe, 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2.

P F Little, Y. Nakamura, K. Davies, 1997, Genomics.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

M. Nesbit, R. Thakker, Rajesh V Thakker, 2013, The New England journal of medicine.

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

F. Ashcroft, P. Rorsman, P. Courtoy, 2009, American journal of physiology. Renal physiology.

Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus.

K. Davies, D. Saranath, M. Nesbit, 2000, Genomics.

GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness

I. Grigorieva, C. Esapa, M. Nesbit, 2013, Hormones and Cancer.

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

M. Nesbit, R. Thakker, P. Christie, 2008, Nature Clinical Practice Endocrinology &Metabolism.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

J. Gécz, M. Bitner-Glindzicz, J. Tolmie, 2006, Human molecular genetics.

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

J. Connell, B. Harding, Jenny J. Yang, 2012, Human molecular genetics.

Characterisation of 25 calcium-sensing receptor mutations in disorders of calcium homeostasis

B. Harding, M. Nesbit, R. Thakker, 2007 .

A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region.

A. Ashworth, K. Davies, M. Leversha, 1996, Human molecular genetics.

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Roger D. Cox, Rajesh V. Thakker, Sara Wells, 2017, JCI insight.

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

A. Pagnamenta, B. Glaser, Jenny C. Taylor, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

M. Nesbit, R. Thakker, A. Hanyaloglu, 2016, The Journal of Biological Chemistry.

Evaluation of the IgG antibody response to SARS CoV-2 infection and performance of a lateral flow immunoassay: cross-sectional and longitudinal analysis over 11 months

James Alastair McLaughlin, M. Nesbit, G. Wallace, 2021, BMJ Open.

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

A. Mallon, M. Brown, R. Cox, 2018, JBMR plus.

Hypoparathyroidism, Deafness, and Renal Anomaly Syndrome

M. Nesbit, 2015 .

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.

Y. Pei, Kairong Wang, N. He, 2005, The Journal of clinical endocrinology and metabolism.

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

M. Nesbit, R. Thakker, A. Conigrave, 2010, European Journal of Human Genetics.

Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease

F. Ashcroft, B. Hoppe, M. Nesbit, 2009, Nephron Physiology.

Assessment of indices of conjunctival microvascular function in patients with and without obstructive coronary artery disease.

James Alastair McLaughlin, E. Trucco, M. Nesbit, 2023, Cardiovascular revascularization medicine : including molecular interventions.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

I. Grigorieva, L. Southam, C. Brain, 2010, Human molecular genetics.

Assessment of hemodynamic indices of conjunctival microvascular function in patients with coronary microvascular dysfunction.

James Alastair McLaughlin, M. Nesbit, M. Spence, 2023, Microvascular research.

Late-onset lattice corneal dystrophy associated TGFBI p.H626R mutation in members of a Canadian family.

M. Nesbit, L. DeDionisio, Clara C. Chan, 2019, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

J. Enghild, C. Cole, R. Hickerson, 2016, Human molecular genetics.

Assessment of the conjunctival microcirculation in adult patients with cyanotic congenital heart disease compared to healthy controls.

D. Finlay, M. Nesbit, K. Blighe, 2021, Microvascular research.

A Review of Personalised Molecular Medicine for the Treatment of Corneal Disorders

M. Nesbit, D. Courtney, A. Thakur, 2015 .

Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease- Associated â•Ÿâ•ŸToggleâ•Žâ•Ž Calcium-Sensing Receptor Mutations

Jenny J. Yang, E. Brown, D. Hamelberg, 2020 .

Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations

Jenny J. Yang, E. Brown, D. Hamelberg, 2014, PloS one.

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia

M. Nesbit, R. Thakker, T. Cranston, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

M. Nesbit, C. Moore, S. De Majumdar, 2017, Scientific Reports.

Interaction of Osteopontin with Osteoclast Integrins a

M. Horton, M. Nesbit, M. Helfrich, 1995, Annals of the New York Academy of Sciences.

Pupil influence on the quality of vision in rotationally asymmetric multifocal IOLs with surface-embedded near segment.

Jonathan E. Moore, M. Nesbit, Eric E Pazo, 2017, Journal of cataract and refractive surgery.

Visual quality and performance comparison between 2 refractive rotationally asymmetric multifocal intraocular lenses.

Olivier Richoz, Jonathan E. Moore, M. Nesbit, 2017, Journal of cataract and refractive surgery.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

Gene editing in the context of an increasingly complex genome

M. Nesbit, L. Castellano, J. Stebbing, 2018, BMC Genomics.

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

M. Nesbit, R. Thakker, T. Cranston, 2013, The New England journal of medicine.

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation

M. Brown, A. Boyde, R. Cox, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

University of Dundee CRISPR / Cas 9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT 12 mutation-specific targeting

M. Nesbit, D. Courtney, S. Atkinson, 2015 .

Successful Proof-of-Concept for Topical Delivery of Novel Peptide ALM201 with Potential Usefulness for Treating Neovascular Eye Disorders

M. Nesbit, C. Moore, D. Cobice, 2022, Ophthalmology science.

Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.

M. Lyon, M. Nesbit, R. Thakker, 2004, Proceedings of the National Academy of Sciences of the United States of America.