C. Gorvin

M. Nesbit, R. Thakker, T. Cranston, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.

M. Nesbit, R. Thakker, F. Hannan, 2016, The New England journal of medicine.

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

J. Connell, S. Pearce, M. Porteous, 2015, Human molecular genetics.

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

S. Pearce, C. Brain, S. Hodgson, 2014, The Journal of clinical endocrinology and metabolism.

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

B. Harding, L. P. Van den Heuvel, E. Levtchenko, 2013, Proceedings of the National Academy of Sciences.

Whole-exome sequencing studies of nonfunctioning pituitary adenomas.

G. McVean, D. Buck, Lorna Gregory, 2013, The Journal of clinical endocrinology and metabolism.

The prolactin receptor: Diverse and emerging roles in pathophysiology

C. Gorvin, 2015, Journal of clinical & translational endocrinology.

Molecular and clinical insights from studies of calcium-sensing receptor mutations.

C. Gorvin, 2019, Journal of molecular endocrinology.

11β-Hydroxysteroid Dehydrogenase Type 1 within Osteoclasts Mediates the Bone Protective Properties of Therapeutic Corticosteroids in Chronic Inflammation

M. Cooper, A. Filer, K. Raza, 2022, International journal of molecular sciences.

Heterogeneity of G protein activation by the calcium-sensing receptor

A. Inoue, C. Gorvin, Hasnat Ali Abid, 2021, Journal of molecular endocrinology.

Mutant prolactin receptor and familial hyperprolactinemia.

P. Klenerman, C. Bountra, C. Willberg, 2013, The New England journal of medicine.

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

S. Wells, R. Cox, M. Stewart, 2020, JBMR plus.

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Steve D. M. Brown, A. Mallon, S. Wells, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

Steve D. M. Brown, A. Mallon, S. Wells, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines

Supat Thongjuea, C. Bountra, R. Thakker, 2021, Journal of molecular endocrinology.

GPCR's and Endocrinology

C. Gorvin, 2021 .

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

E. Jones, C. Siebold, R. Thakker, 2018, Human molecular genetics.

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin–biased signaling

E. Jones, C. Siebold, R. Thakker, 2018, Science Signaling.

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

G. McVean, D. Buck, Lorna Gregory, 2012, The Journal of clinical endocrinology and metabolism.

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

Steve D. M. Brown, F. Ashcroft, R. Cox, 2013, PloS one.

Mutant prolactin receptor and familial hyperprolactinemia.

R. Thakker, C. Gorvin, P. Newey, 2014, The New England journal of medicine.

Protein sequence analysis and modeling of His188Arg extracellular domain structure Protein sequences of prolactin receptor

P. Klenerman, C. Willberg, R. Thakker, 2013 .

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

R. Thakker, T. Cranston, F. Hannan, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

E. Jones, C. Siebold, R. Thakker, 2018 .

Association of prolactin receptor (PRLR) variants with prolactinomas

F. Karpe, M. Neville, A. Grossman, 2018, Human molecular genetics.

Control of PTH secretion by the TRPC1 ion channel

M. Lerner, M. Brandi, R. Thakker, 2020, JCI insight.

AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity

P. Rorsman, R. Thakker, A. Inoue, 2018, Cell reports.

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 calcium-sensing receptor signalling

J. Overton, R. Thakker, R. Metpally, 2018, Human molecular genetics.

University of Southern Denmark AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Pr

P. Rorsman, R. Thakker, A. Inoue, 2018 .

AP 2 s Mutations Impair Ca lcium-Sensing Receptor Trafficking and Signaling , and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity Graphical Abstract Highlights

P. Rorsman, R. Thakker, A. Inoue, 2018 .

Introduction to Genetics of Skeletal and Mineral Metabolic Diseases

R. Thakker, M. Whyte, C. Gorvin, 2017 .

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

Steve D. M. Brown, S. Wells, R. Cox, 2017, JBMR plus.

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Roger D. Cox, Rajesh V. Thakker, Sara Wells, 2017, JCI insight.

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

A. Pagnamenta, B. Glaser, Jenny C. Taylor, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

M. Nesbit, R. Thakker, A. Hanyaloglu, 2016, The Journal of Biological Chemistry.

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

R. Thakker, T. Homfray, B. Shine, 2019, The Journal of clinical endocrinology and metabolism.

Identification of prolactin receptor variants with diverse effects on receptor signalling

R. Thakker, C. Gorvin, P. Newey, 2022, Journal of molecular endocrinology.

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation

Steve D. M. Brown, M. Brown, R. Cox, 2012, PloS one.

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

G. Douglas, K. Channon, S. Chuaiphichai, 2018, Vascular pharmacology.

RISING STARS: Targeting G protein-coupled receptors to regulate energy homeostasis

C. Gorvin, Aqfan Jamaluddin, 2023, Journal of molecular endocrinology.

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

R. Thakker, A. Inoue, M. Stevenson, 2020, Journal of the Endocrine Society.

Architecture of androgen receptor pathways amplifying glucagon-like peptide-1 insulinotropic action in male pancreatic β cells

Charles R. Evans, J. Kolls, E. Bernal-Mizrachi, 2023, Cell reports.

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia

M. Nesbit, R. Thakker, T. Cranston, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

R. Thakker, T. Cranston, F. Hannan, 2020, The Journal of clinical endocrinology and metabolism.

The Importance of Functionally Characterizing Calcium-Sensing Receptor Variants in Individuals With Hypercalcemia

C. Gorvin, 2022, Journal of the Endocrine Society.

Dissecting endocytic mechanisms reveals new molecular targets to enhance sodium iodide symporter activity with clinical relevance to radioiodide therapy

M. Campbell, M. Ringel, S. Jhiang, 2023, bioRxiv.

Insights into calcium-sensing receptor trafficking and biased signalling by studies of calcium homeostasis.

C. Gorvin, 2018, Journal of molecular endocrinology.

University of Birmingham N-ethyl-N-nitrosourea induced adaptor protein 2 sigma subunit 1 (Ap2s1) mutations establish Ap2s1 loss-of-function mice

L. Teboul, A. Paudyal, C. Gorvin, 2017 .

University of

T. Cranston, F. Hannan, C. Gorvin, 2022 .

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

Jenny C. Taylor, Sian E. Piret, R. Thakker, 2016, American journal of medical genetics. Part A.

GIP reduces osteoclast activity and improves osteoblast survival in primary human bone cells.

M. Rosenkilde, K. Søe, T. L. Andersen, 2023, European journal of endocrinology.

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

A. Pagnamenta, Jenny C. Taylor, R. Thakker, 2020, American journal of medical genetics. Part A.

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

A. Hauser, C. Gorvin, Daniel G. Bichet, 2024, Critical reviews in clinical laboratory sciences.

Transcriptional reprogramming during human osteoclast differentiation identifies regulators of osteoclast activity

M. Zaiss, Y. Omata, C. Gorvin, 2024, Bone research.

G protein-coupled receptor (GPCR) pharmacogenomics.

A. Hauser, G. Rovati, C. Gorvin, 2024, Critical reviews in clinical laboratory sciences.

Architecture of androgen receptor pathways amplifying glucagon-like peptide-1 insulinotropic action in male pancreatic β cells

Charles R. Evans, J. Kolls, E. Bernal-Mizrachi, 2023, Cell reports.

A successful conclusion to the long search for TRPV5 pathogenic variants in monogenic hypercalciuria.

C. Gorvin, 2024, European journal of human genetics : EJHG.