The prolactin receptor: Diverse and emerging roles in pathophysiology

Por Gorvin, Caroline M.
Publicado no J Clin Transl Endocrinol (2015)

Calcium-sensing receptor signaling — How human disease informs biology

Por Gorvin, Caroline M.
Publicado no Curr Opin Endocr Metab Res (2021)

Heterogeneity of G protein activation by the calcium-sensing receptor

Por Abid, Hasnat Ali, Inoue, Asuka, Gorvin, Caroline M
Publicado no J Mol Endocrinol (2021)

Identification of prolactin receptor variants with diverse effects on receptor signalling

Por Gorvin, Caroline M, Newey, Paul J, Thakker, Rajesh V
Publicado no J Mol Endocrinol (2023)

Vascular wall regulator of G-protein signalling-1 (RGS-1) is required for angiotensin II–mediated blood pressure control

Por Patel, Jyoti, Chuaiphichai, Surawee, Douglas, Gillian, Gorvin, Caroline M., Channon, Keith M.
Publicado no Vascul Pharmacol (2018)

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

Por Gorvin, Caroline M, Cranston, Treena, Hannan, Fadil M, Rust, Nigel, Qureshi, Asjid, Nesbit, M Andrew, Thakker, Rajesh V
Publicado no J Bone Miner Res (2016)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation

Por Gorvin, Caroline M, Hannan, Fadil M, Cranston, Treena, Valta, Helena, Makitie, Outi, Schalin‐Jantti, Camilla, Thakker, Rajesh V
Publicado no J Bone Miner Res (2017)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

Por Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
Publicado no Am J Med Genet A (2016)

OR07-06 The Roles of GNAQ and GNA11 in Calcium-Sensing Receptor (CaSR) Signalling

Por Gluck, Anna K, Stevenson, Mark, Falcone, Sara, Inoue, Asuka, Breitwieser, Gerda E, Gorvin, Caroline M, Lines, Kate E, Thakker, Rajesh V
Publicado no J Endocr Soc (2020)

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

Por Gorvin, Caroline M, Frost, Morten, Malinauskas, Tomas, Cranston, Treena, Boon, Hannah, Siebold, Christian, Jones, E Yvonne, Hannan, Fadil M, Thakker, Rajesh V
Publicado no Hum Mol Genet (2018)

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

Por Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.
Publicado no Am J Med Genet A (2020)

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

Por Dharmaraj, Poonam, Gorvin, Caroline M, Soni, Astha, Nelhans, Nick D, Olesen, Mie K, Boon, Hannah, Cranston, Treena, Thakker, Rajesh V, Hannan, Fadil M
Publicado no J Clin Endocrinol Metab (2020)

SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)

Por Hannan, Fadil M, Dharmaraj, Poonam, Gorvin, Caroline M, Soni, Astha, Nelhans, Nick D, Olesen, Mie Kronborg, Boon, Hannah, Cranston, Treena, Thakker, Rajesh V
Publicado no J Endocr Soc (2020)

Knockin mouse with mutant Gα(11) mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

Por Roszko, Kelly L., Bi, Ruiye, Gorvin, Caroline M., Bräuner-Osborne, Hans, Xiong, Xiao-Feng, Inoue, Asuka, Thakker, Rajesh V., Strømgaard, Kristian, Gardella, Thomas, Mannstadt, Michael
Publicado no JCI Insight (2017)

N‐ethyl‐N‐nitrosourea–Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss‐of‐Function Mice

Por Gorvin, Caroline M, Rogers, Angela, Stewart, Michelle, Paudyal, Anju, Hough, Tertius A, Teboul, Lydia, Wells, Sara, Brown, Steve DM, Cox, Roger D, Thakker, Rajesh V
Publicado no JBMR Plus (2017)

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population

Por Dershem, Ridge, Gorvin, Caroline M., Metpally, Raghu P.R., Krishnamurthy, Sarathbabu, Smelser, Diane T., Hannan, Fadil M., Carey, David J., Thakker, Rajesh V., Breitwieser, Gerda E.
Publicado no Am J Hum Genet (2020)

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model

Por Hannan, Fadil M, Gorvin, Caroline M, Babinsky, Valerie N, Olesen, Mie K, Stewart, Michelle, Wells, Sara, Cox, Roger D, Nemeth, Edward F, Thakker, Rajesh V
Publicado no JBMR Plus (2020)

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair...

Por Gorvin, Caroline M, Metpally, Raghu, Stokes, Victoria J, Hannan, Fadil M, Krishnamurthy, Sarath B, Overton, John D, Reid, Jeffrey G, Breitwieser, Gerda E, Thakker, Rajesh V
Publicado no Hum Mol Genet (2018)

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders

Por Babinsky, Valerie N., Hannan, Fadil M., Gorvin, Caroline M., Howles, Sarah A., Nesbit, M. Andrew, Rust, Nigel, Hanyaloglu, Aylin C., Hu, Jianxin, Spiegel, Allen M., Thakker, Rajesh V.
Publicado no J Biol Chem (2016)

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

Por Howles, Sarah A., Hannan, Fadil M., Babinsky, Valerie N., Rogers, Angela, Gorvin, Caroline M., Rust, Nigel, Richardson, Tristan, McKenna, Malachi J., Nesbit, M. Andrew, Thakker, Rajesh V.
Publicado no N Engl J Med (2016)