Cranston T - Search Results

1

Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.

Gorvin CM, Stokes VJ, Boon H, Cranston T, Glück AK, Bahl S, Homfray T, Aung T, Shine B, Lines KE, Hannan FM, Thakker RV. Gorvin CM, et al. Among authors: cranston t. J Clin Endocrinol Metab. 2020 Mar 1;105(3):952-63. doi: 10.1210/clinem/dgz251. J Clin Endocrinol Metab. 2020. PMID: 31820785 Free PMC article.

2

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

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Nesbit MA, et al. Among authors: cranston t. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253. N Engl J Med. 2013. PMID: 23802516 Free PMC article.

3

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

Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV. Rogers A, et al. Among authors: cranston t. J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708097 Free PMC article.

4

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

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV. Gorvin CM, et al. Among authors: cranston t. J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6. J Bone Miner Res. 2016. PMID: 26729423 Free PMC article.

5

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

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV. Piret SE, et al. Among authors: cranston t. J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797. J Bone Miner Res. 2016. PMID: 26818911 Free PMC article.

6

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα₁₁ Mutation.

Gorvin CM, Hannan FM, Cranston T, Valta H, Makitie O, Schalin-Jantti C, Thakker RV. Gorvin CM, et al. Among authors: cranston t. J Bone Miner Res. 2018 Jan;33(1):32-41. doi: 10.1002/jbmr.3241. Epub 2017 Sep 22. J Bone Miner Res. 2018. PMID: 28833550 Free PMC article.

7

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

Gorvin CM, Frost M, Malinauskas T, Cranston T, Boon H, Siebold C, Jones EY, Hannan FM, Thakker RV. Gorvin CM, et al. Among authors: cranston t. Hum Mol Genet. 2018 Nov 1;27(21):3720-3733. doi: 10.1093/hmg/ddy263. Hum Mol Genet. 2018. PMID: 30052933 Free PMC article.

8

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).

Dharmaraj P, Gorvin CM, Soni A, Nelhans ND, Olesen MK, Boon H, Cranston T, Thakker RV, Hannan FM. Dharmaraj P, et al. Among authors: cranston t. J Clin Endocrinol Metab. 2020 May 1;105(5):1393-400. doi: 10.1210/clinem/dgaa111. J Clin Endocrinol Metab. 2020. PMID: 32150253 Free PMC article.

9

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

Mirczuk SM, Bowl MR, Nesbit MA, Cranston T, Fratter C, Allgrove J, Brain C, Thakker RV. Mirczuk SM, et al. Among authors: cranston t. J Clin Endocrinol Metab. 2010 Jul;95(7):3512-6. doi: 10.1210/jc.2009-2532. Epub 2010 May 12. J Clin Endocrinol Metab. 2010. PMID: 20463099

10

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 FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV. Hannan FM, et al. Among authors: cranston t. Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422767

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