Theo dõi
Caroline Gorvin
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
1602012
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
1442013
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
982013
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
962015
The prolactin receptor: Diverse and emerging roles in pathophysiology
CM Gorvin
Journal of clinical & translational endocrinology 2 (3), 85-91, 2015
892015
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
852018
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
802013
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
622020
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
612016
Molecular and clinical insights from studies of calcium-sensing receptor mutations
CM Gorvin
Journal of molecular endocrinology 63 (2), R1-R16, 2019
572019
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
552016
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
532018
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
512016
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
472018
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
452016
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
442013
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
402017
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
392017
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
382017
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
342019
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