List of works - Caroline M Gorvin

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

scientific article published on 05 January 2016

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

scientific article published on 20 February 2018

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

scientific article

AP2? Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity

scientific article published on 28 January 2018

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

scientific article published on 01 March 2020

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

scientific article

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

scientific article published on 18 March 2016

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

scientific article published on 14 December 2018

Association of prolactin receptor (PRLR) variants with prolactinomas

scientific article published on 01 March 2019

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

scientific article

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

scientific article

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

scientific article published on 07 September 2020

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

article

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

scientific article published on 18 August 2017

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

scientific article

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

scientific article published on April 2016

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

scientific article published on 09 February 2017

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

scientific article published on 28 January 2016

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

scientific article

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

scientific article published on 09 February 2017

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

scientific article published on 9 January 2018

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

scientific article published on 04 March 2019

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

scientific article published on 01 August 2019

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy

scientific article

Mutant Prolactin Receptor and Familial Hyperprolactinemia

scientific article published on 01 March 2014

Mutant prolactin receptor and familial hyperprolactinemia

scientific article

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

scientific article published on 7 April 2014

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

scientific article published in May 2017

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

scientific article published on 9 April 2013

The prolactin receptor: Diverse and emerging roles in pathophysiology

scientific article published on 16 May 2015

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

scientific article published on 11 April 2018

Whole-exome sequencing studies of nonfunctioning pituitary adenomas

scientific article published on 28 February 2013

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

scientific article

List of works by Caroline M Gorvin

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

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

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation

AP2? Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity

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

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

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

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

Association of prolactin receptor (PRLR) variants with prolactinomas

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

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

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

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

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

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

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

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

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors

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

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

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

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy

Mutant Prolactin Receptor and Familial Hyperprolactinemia

Mutant prolactin receptor and familial hyperprolactinemia

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

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

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

The prolactin receptor: Diverse and emerging roles in pathophysiology

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

Whole-exome sequencing studies of nonfunctioning pituitary adenomas

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