Literature DB >> 27050234

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

Sarah A Howles1, Fadil M Hannan1, Valerie N Babinsky1, Angela Rogers1, Caroline M Gorvin1, Nigel Rust1, Tristan Richardson2, Malachi J McKenna3, M Andrew Nesbit1, Rajesh V Thakker1.   

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Year:  2016        PMID： 27050234      PMCID： PMC4972445          DOI： 10.1056/NEJMc1511646

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

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

Authors:  Fadil M Hannan; M Andrew Nesbit; Chen Zhang; Treena Cranston; Alan J Curley; Brian Harding; Carl Fratter; Nigel Rust; Paul T Christie; Jeremy J O Turner; Manuel C Lemos; Michael R Bowl; Roger Bouillon; Caroline Brain; Nicola Bridges; Christine Burren; John M Connell; Heike Jung; Eileen Marks; David McCredie; Zulf Mughal; Christine Rodda; Sherida Tollefsen; Edward M Brown; Jenny J Yang; Rajesh V Thakker
Journal:  Hum Mol Genet       Date:  2012-03-14       Impact factor: 6.150

Review 2.  Calcimimetic and calcilytic drugs for treating bone and mineral-related disorders.

Authors:  Edward F Nemeth; Dolores Shoback
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2013-03-27       Impact factor: 4.690

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

Authors:  M Andrew Nesbit; Fadil M Hannan; Sarah A Howles; Valerie N Babinsky; Rosie A Head; Treena Cranston; Nigel Rust; Maurine R Hobbs; Hunter Heath; Rajesh V Thakker
Journal:  N Engl J Med       Date:  2013-06-27       Impact factor: 91.245

4.  Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Authors:  M Andrew Nesbit; Fadil M Hannan; Sarah A Howles; Anita A C Reed; Treena Cranston; Clare E Thakker; Lorna Gregory; Andrew J Rimmer; Nigel Rust; Una Graham; Patrick J Morrison; Steven J Hunter; Michael P Whyte; Gil McVean; David Buck; Rajesh V Thakker
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330

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

Authors:  Fadil M Hannan; Sarah A Howles; Angela Rogers; Treena Cranston; Caroline M Gorvin; Valerie N Babinsky; Anita A Reed; Clare E Thakker; Detlef Bockenhauer; Rosalind S Brown; John M Connell; Jacqueline Cook; Ken Darzy; Sarah Ehtisham; Una Graham; Tony Hulse; Steven J Hunter; Louise Izatt; Dhavendra Kumar; Malachi J McKenna; John A McKnight; Patrick J Morrison; M Zulf Mughal; Domhnall O'Halloran; Simon H Pearce; Mary E Porteous; Mushtaqur Rahman; Tristan Richardson; Robert Robinson; Isabelle Scheers; Haroon Siddique; William G Van't Hoff; Timothy Wang; Michael P Whyte; M Andrew Nesbit; Rajesh V Thakker
Journal:  Hum Mol Genet       Date:  2015-06-16       Impact factor: 6.150
  5 in total
  20 in total

Review 1.  Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

Authors:  Stephen J Marx; David Goltzman
Journal:  J Bone Miner Res       Date:  2018-12-10       Impact factor: 6.741

Review 2.  International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.

Authors:  Katie Leach; Fadil M Hannan; Tracy M Josephs; Andrew N Keller; Thor C Møller; Donald T Ward; Enikö Kallay; Rebecca S Mason; Rajesh V Thakker; Daniela Riccardi; Arthur D Conigrave; Hans Bräuner-Osborne
Journal:  Pharmacol Rev       Date:  2020-07       Impact factor: 25.468

Review 3.  Familial hypocalciuric hypercalcemia and related disorders.

Authors:  Janet Y Lee; Dolores M Shoback
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2018-05-26       Impact factor: 4.690

4.  Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Authors:  Caroline M Gorvin; Morten Frost; Tomas Malinauskas; Treena Cranston; Hannah Boon; Christian Siebold; E Yvonne Jones; Fadil M Hannan; Rajesh V Thakker
Journal:  Hum Mol Genet       Date:  2018-11-01       Impact factor: 6.150

5.  Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.

Authors:  Auryan Szalat; Shoshana Shpitzen; Anat Tsur; Ilana Zalmon Koren; Shmuel Shilo; Liana Tripto-Shkolnik; Ronen Durst; Eran Leitersdorf; Vardiella Meiner
Journal:  Endocrine       Date:  2017-02-07       Impact factor: 3.633

Review 6.  Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.

Authors:  Fadil M Hannan; Mie K Olesen; Rajesh V Thakker
Journal:  Br J Pharmacol       Date:  2017-12-11       Impact factor: 8.739

Review 7.  Therapeutic Opportunities of Targeting Allosteric Binding Sites on the Calcium-Sensing Receptor.

Authors:  Jiayin Diao; Aaron DeBono; Tracy M Josephs; Jane E Bourke; Ben Capuano; Karen J Gregory; Katie Leach
Journal:  ACS Pharmacol Transl Sci       Date:  2021-03-08

Review 8.  Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Authors:  Fadil M Hannan; Valerie N Babinsky; Rajesh V Thakker
Journal:  J Mol Endocrinol       Date:  2016-10       Impact factor: 5.098

9.  Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.

Authors:  Fadil M Hannan; Mark Stevenson; Asha L Bayliss; Victoria J Stokes; Michelle Stewart; Kreepa G Kooblall; Caroline M Gorvin; Gemma Codner; Lydia Teboul; Sara Wells; Rajesh V Thakker
Journal:  Hum Mol Genet       Date:  2021-05-29       Impact factor: 6.150

Review 10.  The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Authors:  Fadil M Hannan; Enikö Kallay; Wenhan Chang; Maria Luisa Brandi; Rajesh V Thakker
Journal:  Nat Rev Endocrinol       Date:  2018-12       Impact factor: 43.330
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