Hakutulokset - M. Andrew Nesbit

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  1. 1
    Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification

    Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification Tekijä Tertius Hough, Debora Bogani, Michael Cheeseman, Jack Favor, M. Andrew Nesbit, Rajesh V. Thakker, Mary F. Lyon

    Julkaistu 2004
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  2. 2
    A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

    A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Tekijä Caroline M. Gorvin, Treena Cranston, Fadil Hannan, Nigel Rust, Asjid Qureshi, M. Andrew Nesbit, Rajesh V. Thakker

    Julkaistu 2016
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  3. 3
    A Missense<i>Glial Cells Missing Homolog B</i>(<i>GCMB</i>) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

    A Missense<i>Glial Cells Missing Homolog B</i>(<i>GCMB</i>) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism Tekijä Samantha Mirczuk, Michael R. Bowl, M. Andrew Nesbit, Treena Cranston, Carl Fratter, Jeremy Allgrove, Caroline Brain, Rajesh V. Thakker

    Julkaistu 2010
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  4. 4
    A homozygous inactivating calcium‐sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

    A homozygous inactivating calcium‐sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and sever... Tekijä Fadil Hannan, M. Andrew Nesbit, Paul T. Christie, Willy Lissens, Bart Van der Schueren, Marie Bex, Roger Bouillon, Rajesh V. Thakker

    Julkaistu 2010
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  5. 5
    Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress

    Mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress Tekijä Siân E. Piret, Eric Olinger, Adam J. Reed, M. Andrew Nesbit, Tertius Hough, Liz Bentley, Olivier Devuyst, Roger Cox, Rajesh V. Thakker

    Julkaistu 2017
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  6. 6
    Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders

    Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders Tekijä Kathleen A. Christie, David G. Courtney, Larry DeDionisio, Connie Chao-Shern, Shyamasree De Majumdar, Laura Mairs, M. Andrew Nesbit, Tara Moore

    Julkaistu 2017
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  7. 7
    Mutations Affecting G-Protein Subunit α<sub>11</sub>in Hypercalcemia and Hypocalcemia

    Mutations Affecting G-Protein Subunit α<sub>11</sub>in Hypercalcemia and Hypocalcemia Tekijä M. Andrew Nesbit, Fadil Hannan, Sarah Howles, Valerie Babinsky, Rosie Head, Treena Cranston, Nigel Rust, Maurine R. Hobbs, Hunter Heath, Rajesh V. Thakker

    Julkaistu 2013
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  8. 8
    Topical siRNA delivery to the cornea and anterior eye by hybrid silicon-lipid nanoparticles

    Topical siRNA delivery to the cornea and anterior eye by hybrid silicon-lipid nanoparticles Tekijä Paulina Rachwalska, Nissim Torabi‐Pour, Flavia Maria Sutera, Mukhtar H. Ahmed, Keith Thomas, M. Andrew Nesbit, Michael Welsh, Tara Moore, Suzanne Saffie‐Siebert

    Julkaistu 2020
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  9. 9
    Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations

    Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations Tekijä Sarah Howles, Fadil Hannan, Valerie Babinsky, Ralph Rogers, Caroline M. Gorvin, Nigel Rust, Tristan Richardson, Malachi J. McKenna, M. Andrew Nesbit, Rajesh V. Thakker

    Julkaistu 2016
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  10. 10
    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)

    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... Tekijä Fadil Hannan, Gerard Walls, Valerie Babinsky, M. Andrew Nesbit, Enikö Kállay, Tertius Hough, William D. Fraser, Roger Cox, Jianxin Hu, Allen M. Spiegel, Rajesh V. Thakker

    Julkaistu 2015
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  11. 11
    Effective In Vivo Topical Delivery of siRNA and Gene Silencing in Intact Corneal Epithelium Using a Modified Cell-Penetrating Peptide

    Effective In Vivo Topical Delivery of siRNA and Gene Silencing in Intact Corneal Epithelium Using a Modified Cell-Penetrating Peptide Tekijä Davide Schiroli, María J. Gómara, Eleonora Maurizi, Sarah D. Atkinson, Laura Mairs, Kathleen A. Christie, Diego Cobice, Cian M. McCrudden, M. Andrew Nesbit, Isabel Haro, Tara Moore

    Julkaistu 2019
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  12. 12
    CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

    CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting Tekijä David G. Courtney, Jonathan E. Moore, Sarah D. Atkinson, Eleonora Maurizi, Edwin H. A. Allen, Deena M. Leslie Pedrioli, W.H. Irwin McLean, M. Andrew Nesbit, Tara Moore

    Julkaistu 2015
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  13. 13
    An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

    An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism Tekijä Michael R. Bowl, M. Andrew Nesbit, Brian Harding, Elaine R. Levy, Andrew Jefferson, Emanuela V. Volpi, Karine Rizzoti, Robin Lovell‐Badge, David Schlessinger, Michael P. Whyte, Rajesh V. Thakker

    Julkaistu 2005
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  14. 14
    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) Tekijä Siân E. Piret, Caroline M. Gorvin, Alistair T. Pagnamenta, Sarah Howles, Treena Cranston, Nigel Rust, M. Andrew Nesbit, Ben Glaser, Jenny C. Taylor, Andreas Buchs, Fadil Hannan, Rajesh V. Thakker

    Julkaistu 2016
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  15. 15
    Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas

    Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas Tekijä Paul Newey, M. Andrew Nesbit, Andrew J. Rimmer, Rosie Head, Caroline M. Gorvin, Moustafa Attar, Lorna Gregory, John Wass, David Buck, Niki Karavitaki, Ashley Grossman, Gil McVean, Olaf Ansorge, Rajesh V. Thakker

    Julkaistu 2013
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  16. 16
    Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

    Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas Tekijä Paul Newey, M. Andrew Nesbit, Andrew J. Rimmer, Moustafa Attar, R. A. Head, Paul T. Christie, Caroline M. Gorvin, Michael Stechman, Lorna Gregory, Radu Mihai, Greg Sadler, Gil McVean, David Buck, Rajesh V. Thakker

    Julkaistu 2012
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  17. 17
    CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

    CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease Tekijä Adam J. Reed, Nellie Y. Loh, Sara Terryn, Jonathan D. Lippiat, Chris Partridge, Juris Galvanovskis, Sian Williams, François Jouret, Fiona Wu, Pierre J. Courtoy, M. Andrew Nesbit, Patrik Rorsman, Olivier Devuyst, Frances M. Ashcroft, Rajesh V. Thakker

    Julkaistu 2009
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  18. 18
    Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

    Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 Tekijä M. Andrew Nesbit, Fadil Hannan, Sarah Howles, Adam J. Reed, Treena Cranston, Clare Thakker, Lorna Gregory, Andrew J. Rimmer, Nigel Rust, Una Graham, Patrick J. Morrison, Steven Hunter, Michael P. Whyte, Gil McVean, David Buck, Rajesh V. Thakker

    Julkaistu 2012
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  19. 19
    Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

    Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy Tekijä Caroline M. Gorvin, Fadil Hannan, Sarah Howles, Valerie Babinsky, Siân E. Piret, Angela Rogers, Andrew Freidin, Michelle Stewart, Anju Paudyal, Tertius Hough, M. Andrew Nesbit, Sara Wells, Tonia L. Vincent, S.D.M. Brown, Roger Cox, Rajesh V. Thakker

    Julkaistu 2017
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  20. 20
    MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO)

    MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO) Tekijä Ann Kennedy, Masaki Inada, Stephen M. Krane, Paul T. Christie, Brian Harding, Carlos López-Otı́n, Luis Sánchez‐Pulido, A. A. J. Pannett, Andrew Dearlove, Claire Hartley, Michael H. Byrne, Adam J. Reed, M. Andrew Nesbit, Michael P. Whyte, Rajesh V. Thakker

    Julkaistu 2005
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