Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas PJ Newey, MA Nesbit, AJ Rimmer, M Attar, RT Head, PT Christie, ... The Journal of Clinical Endocrinology & Metabolism 97 (10), E1995-E2005, 2012 | 160 | 2012 |
Mutant prolactin receptor and familial hyperprolactinemia PJ Newey, CM Gorvin, SJ Cleland, CB Willberg, M Bridge, M Azharuddin, ... New England Journal of Medicine 369 (21), 2012-2020, 2013 | 144 | 2013 |
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients CM Gorvin, MJ Wilmer, SE Piret, B Harding, LP Van Den Heuvel, O Wrong, ... Proceedings of the National Academy of Sciences 110 (17), 7014-7019, 2013 | 98 | 2013 |
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant … FM Hannan, SA Howles, A Rogers, T Cranston, CM Gorvin, VN Babinsky, ... Human molecular genetics 24 (18), 5079-5092, 2015 | 96 | 2015 |
The prolactin receptor: Diverse and emerging roles in pathophysiology CM Gorvin Journal of clinical & translational endocrinology 2 (3), 85-91, 2015 | 89 | 2015 |
AP2σ mutations impair calcium-sensing receptor trafficking and signaling, and show an endosomal pathway to spatially direct G-protein selectivity CM Gorvin, A Rogers, B Hastoy, AI Tarasov, M Frost, S Sposini, A Inoue, ... Cell reports 22 (4), 1054-1066, 2018 | 85 | 2018 |
Whole-exome sequencing studies of nonfunctioning pituitary adenomas PJ Newey, MA Nesbit, AJ Rimmer, RA Head, CM Gorvin, M Attar, ... The Journal of Clinical Endocrinology & Metabolism 98 (4), E796-E800, 2013 | 80 | 2013 |
Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population R Dershem, CM Gorvin, RPR Metpally, S Krishnamurthy, DT Smelser, ... The American Journal of Human Genetics 106 (6), 734-747, 2020 | 62 | 2020 |
AG‐protein subunit‐α11 loss‐of‐function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia type 2 (FHH2) CM Gorvin, T Cranston, FM Hannan, N Rust, A Qureshi, MA Nesbit, ... Journal of Bone and Mineral Research 31 (6), 1200-1206, 2016 | 61 | 2016 |
Molecular and clinical insights from studies of calcium-sensing receptor mutations CM Gorvin Journal of molecular endocrinology 63 (2), R1-R16, 2019 | 57 | 2019 |
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations SA Howles, FM Hannan, VN Babinsky, A Rogers, CM Gorvin, N Rust, ... New England Journal of Medicine 374 (14), 1396-1398, 2016 | 55 | 2016 |
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation CM Gorvin, FM Hannan, T Cranston, H Valta, O Makitie, C Schalin‐Jantti, ... Journal of Bone and Mineral Research 33 (1), 32-41, 2018 | 53 | 2018 |
Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) SE Piret, CM Gorvin, AT Pagnamenta, SA Howles, T Cranston, N Rust, ... Journal of Bone and Mineral Research 31 (6), 1207-1214, 2016 | 51 | 2016 |
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin–biased signaling CM Gorvin, VN Babinsky, T Malinauskas, PH Nissen, AJ Schou, ... Science signaling 11 (518), eaan3714, 2018 | 47 | 2018 |
Allosteric modulation of the calcium-sensing receptor rectifies signaling abnormalities associated with G-protein α-11 mutations causing hypercalcemic and hypocalcemic disorders VN Babinsky, FM Hannan, CM Gorvin, SA Howles, MA Nesbit, N Rust, ... Journal of Biological Chemistry 291 (20), 10876-10885, 2016 | 45 | 2016 |
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5 NY Loh, L Bentley, H Dimke, S Verkaart, P Tammaro, CM Gorvin, ... PloS one 8 (1), e55412, 2013 | 44 | 2013 |
Mutant mice with calcium-sensing receptor activation have hyperglycemia that is rectified by calcilytic therapy VN Babinsky, FM Hannan, RD Ramracheya, Q Zhang, MA Nesbit, ... Endocrinology 158 (8), 2486-2502, 2017 | 40 | 2017 |
Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors KL Roszko, R Bi, CM Gorvin, H Bräuner-Osborne, XF Xiong, A Inoue, ... JCI insight 2 (3), e91079, 2017 | 39 | 2017 |
Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy CM Gorvin, FM Hannan, SA Howles, VN Babinsky, SE Piret, A Rogers, ... JCI insight 2 (3), e91103, 2017 | 38 | 2017 |
Association of prolactin receptor (PRLR) variants with prolactinomas CM Gorvin, PJ Newey, A Rogers, V Stokes, MJ Neville, KE Lines, G Ntali, ... Human Molecular Genetics 28 (6), 1023-1037, 2019 | 34 | 2019 |