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Hannan, F, Stevenson, M, Bayliss, A, Stokes, V, Stewart, M, Kooblall, K, Gorvin, CM, Codner, G, Teboul, L, Wells, S & Thakker, R 2021, 'Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3', Human Molecular Genetics.
Gorvin, CM 2021, 'Calcium-sensing receptor signaling - how human disease informs biology', Current Opinion in Endocrine and Metabolic Research, vol. 16, pp. 10-18. https://doi.org/10.1016/j.coemr.2020.06.007
Hannan, F, Gorvin, CM, Babinsky, VN, Olesen, M, Stewart, M, Wells, S, Cox, R, Nemeth, E & Thakker, R 2020, 'Calcilytic NPSP795 increases plasma calcium and PTH in an autosomal dominant hypocalcemia type-1 mouse model', JBMR Plus.
Onopiuk, M, Eby, B, Nesin, V, Ngo, P, Lerner, M, Gorvin, CM, Stokes, VJ, Thakker, RV, Brandi, ML, Chang, W, Humphrey, MB, Tsiokas, L & Lau, K 2020, 'Control of PTH secretion by the TRPC1 ion channel', JCI Insight, vol. 5, no. 8, pp. 1-17. https://doi.org/10.1172/jci.insight.132496
Dersham, R, Gorvin, CM, Metpally, R, Krishnamurthy, S, Smelser, D, Hannan, F, Carey, D, Thakker, R & Breitwieser, GE 2020, 'Familial hypocalciuric hypercalcemia type 1 and autosomal dominant hypocalcemia type 1: prevalence in a large healthcare population', American Journal of Human Genetics, vol. 106, no. 6, pp. 734-747. https://doi.org/10.1016/j.ajhg.2020.04.006
Dharmaraj, P, Gorvin, CM, Soni, A, Nelhans, N, Olesen, M, Boon, H, Cranston, T, Thakker, R & Hannan, F 2020, 'Neonatal hypocalcemic seizures in offspring of a mother with familial hypocalciuric hypercalcemia type 1 (FHH1)', Journal of Clinical Endocrinology and Metabolism, vol. 105, no. 5, pp. 1393–1400. https://doi.org/10.1210/clinem/dgaa111
OxClinWGS 2020, 'Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61814
Gorvin, CM, Stokes, V, Boon, H, Cranston, T, Gluck, A, Bahl, S, Homfray, T, Aung, T, Shine, B, Lines, K, Hannan, F & Thakker, R 2019, 'Activating mutations of the G-protein subunit α11 interdomain interface cause autosomal dominant hypocalcemia type 2', Journal of Clinical Endocrinology and Metabolism. https://doi.org/10.1210/clinem/dgz251
Gorvin, CM, Loh, N, Stechman, M, Falcone, S, Hannan, FM, Ahmad, B, Piret, S, Reed, A, Jeyabalan, J, Leo, P, Marshall, M, Sethi, S, Bass, P, Roberts, I, Sanderson, J, Wells, S, Hough, T, Bentley, L, Christie, P, Simon, M, Mallon, A-M, Schulz, H, Cox, R, Brown, M, Huebner, N, Brown, S & Thakker, RV 2019, 'Mice with a Brd4 mutation represent a new model of nephrocalcinosis', Journal of Bone and Mineral Research, vol. 34, no. 7, pp. 1324-1335. https://doi.org/10.1002/jbmr.3695
Gorvin, CM 2019, 'Molecular and clinical insights from studies of calcium-sensing receptor mutations', Journal of Molecular Endocrinology, vol. 63, no. 2, pp. R1-R16. https://doi.org/10.1530/JME-19-0104
Gorvin, CM, Babinsky, VN, Malinauskas, T, Nissen, PH, Schou, AJ, Hanyaloglu, AC, Siebold, C, Jones, EY, Hannan, FM & Thakker, RV 2018, 'A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling', Science signaling, vol. 11, no. 518, eaan3714. https://doi.org/10.1126/scisignal.aan3714
Gorvin, CM, Rogers, A, Hastoy, B, Tarasov, AI, Frost, M, Sposini, S, Inoue, A, Whyte, MP, Rorsman, P, Hanyaloglu, AC, Breitwieser, GE & Thakker, RV 2018, 'AP2σ mutations impair calcium-sensing receptor trafficking and signaling, and show an endosomal pathway to spatially direct G-Protein selectivity', Cell Reports, vol. 22, no. 4, pp. 1054-1066. https://doi.org/10.1016/j.celrep.2017.12.089
Gorvin, CM, Ahmad, B, Stechman, M, Loh, N, Hough, T, Leo, P, Marshall, M, Sethi, S, Bentley, L, Piret, S, Reed, A, Jeyabalan, J, Christie, P, Wells, S, Simon, M, Mallon, A-M, Schulz, H, Huebner, N, Brown, M, Cox, R, Brown, S & Thakker, R 2018, 'An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice', Journal of Bone and Mineral Research. https://doi.org/10.1002/jbmr.3624
Gorvin, CM, Newey, PJ, Rogers, A, Stokes, V, Neville, MJ, Lines, KE, Ntali, G, Lees, P, Morrison, PJ, Singhellakis, PN, Malandrinou, FC, Karavitaki, N, Grossman, AB, Karpe, F & Thakker, RV 2018, 'Association of prolactin receptor (PRLR) variants with prolactinomas', Human Molecular Genetics. https://doi.org/10.1093/hmg/ddy396
Chapter (peer-reviewed)
Gorvin, CM 2021, GPCRs and Endocrinology. in Reference Module in Biomedical Sciences. https://doi.org/10.1016/B978-0-12-820472-6.00020-7
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