Resultados da pesquisa - Nigel Rust
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A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Por Caroline M. Gorvin, Treena Cranston, Fadil Hannan, Nigel Rust, Asjid Qureshi, M. Andrew Nesbit, Rajesh V. Thakker
Publicado em 2016Artigo -
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Mutations Affecting G-Protein Subunit α<sub>11</sub>in Hypercalcemia and Hypocalcemia Por M. Andrew Nesbit, Fadil Hannan, Sarah Howles, Valerie Babinsky, Rosie Head, Treena Cranston, Nigel Rust, Maurine R. Hobbs, Hunter Heath, Rajesh V. Thakker
Publicado em 2013Artigo -
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Analysis of C. elegans intestinal gene expression and polyadenylation by fluorescence-activated nuclei sorting and 3′-end-seq Por Simon Haenni, Zhe Ji, Mainul Hoque, Nigel Rust, Helen Sharpe, Ralf Eberhard, Cathy Browne, Michael O. Hengartner, Jane Mellor, Bin Tian, André Furger
Publicado em 2012Artigo -
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Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations Por Sarah Howles, Fadil Hannan, Valerie Babinsky, Ralph Rogers, Caroline M. Gorvin, Nigel Rust, Tristan Richardson, Malachi J. McKenna, M. Andrew Nesbit, Rajesh V. Thakker
Publicado em 2016Carta -
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Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) Por 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
Publicado em 2016Artigo -
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 Por 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
Publicado em 2012Artigo -
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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites Por Fadil Hannan, M. Andrew Nesbit, C. Zhang, Treena Cranston, Alan Curley, Brian Harding, Carl Fratter, Nigel Rust, P. T. Christie, J Turner, Manuel C. Lemos, Michael R. Bowl, R. Bouillon, Caroline Brain, Nicola Bridges, Christine Burren, J. M. C. Connell, Heike Jung, Eileen Marks, D. McCredie, Zulf Mughal, Christine Rodda, Sherida E. Tollefsen, Edward M. Brown, Jing Yang, Rajesh V. Thakker
Publicado em 2012Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Genetics
Medicine
Gene
Internal medicine
Calcium
Mutation
Calcium metabolism
Calcium-sensing receptor
Endocrinology
Receptor
Missense mutation
Molecular biology
Antigen
Cell biology
Environmental health
Human leukocyte antigen
Immunology
Population
Allele
Binding site
Botany
CD8
CTL*
Caenorhabditis elegans
Chemistry
Cinacalcet
Clathrin
Cleavage (geology)
Complementary DNA