The importance of functionally characterizing calcium-sensing receptor variants in individuals with hypercalcemia

Caroline M Gorvin

doi:10.1210/jendso/bvac052

The importance of functionally characterizing calcium-sensing receptor variants in individuals with hypercalcemia

Caroline M Gorvin

Metabolism and Systems Science

Research output: Contribution to journal › Review article › peer-review

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Original language	English
Article number	bvac052
Pages (from-to)	1-2
Number of pages	2
Journal	Journal of the Endocrine Society
Volume	6
Issue number	6
Early online date	4 Apr 2022
DOIs	https://doi.org/10.1210/jendso/bvac052
Publication status	Published - Jun 2022

Keywords

familial hypocalciuric hypercalcemia
genetic variants
hypocalcemia
pathogenicity prediction
CaSR
calcium-sensing recepter
FHH

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism

Access to Document

10.1210/jendso/bvac052Licence: Creative Commons: Attribution (CC BY)

Gorvin2022_the_Importance_of_FunctionallyFinal published version, 220 KBLicence: Creative Commons: Attribution (CC BY)
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1 Active
4 Finished

Deciphering the complexities in ghrelin receptor signalling to improve understanding of appetite regulation
Gorvin, C. (Principal Investigator)
The Wellcome Trust
1/08/22 → 31/07/27
Project: Research
The role of the G protein-coupled receptor, LGR4, in bone metabolism and obesity
Gorvin, C. (Principal Investigator)
Novo Nordisk Fonden
1/09/19 → 31/08/24
Project: EU
Manipulating GPCR heterodimerisation for novel obesity and tumour therapies
Gorvin, C. (Principal Investigator)
THE ACADEMY OF MEDICAL SCIENCES
1/08/19 → 31/01/22
Project: Research
Role and Control of the Functional Specialisation of Microglia during Fungal Meningitis
Drummond, R. (Principal Investigator)
THE ACADEMY OF MEDICAL SCIENCES
1/04/19 → 30/11/22
Project: Research
Defects in Calcium-Sensing Receptor Plasma Membrane Expression Account for the Hypoparathyroidism Observed in Mitochondrial Disease
Gorvin, C. (Principal Investigator)
Odense University Hospital
1/01/18 → 31/12/19
Project: EU

Cite this

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title = "The importance of functionally characterizing calcium-sensing receptor variants in individuals with hypercalcemia",

keywords = "familial hypocalciuric hypercalcemia, genetic variants, hypocalcemia, pathogenicity prediction, CaSR, calcium-sensing recepter, FHH",

author = "Gorvin, {Caroline M}",

year = "2022",

month = jun,

doi = "10.1210/jendso/bvac052",

language = "English",

volume = "6",

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journal = "Journal of the Endocrine Society",

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AU - Gorvin, Caroline M

PY - 2022/6

Y1 - 2022/6

KW - familial hypocalciuric hypercalcemia

KW - genetic variants

KW - hypocalcemia

KW - pathogenicity prediction

KW - CaSR

KW - calcium-sensing recepter

KW - FHH

U2 - 10.1210/jendso/bvac052

DO - 10.1210/jendso/bvac052

M3 - Review article

C2 - 35506149

SN - 2472-1972

VL - 6

SP - 1

EP - 2

JO - Journal of the Endocrine Society

JF - Journal of the Endocrine Society

IS - 6

M1 - bvac052

ER -

The importance of functionally characterizing calcium-sensing receptor variants in individuals with hypercalcemia

Keywords

ASJC Scopus subject areas

Access to Document

Projects

Deciphering the complexities in ghrelin receptor signalling to improve understanding of appetite regulation

The role of the G protein-coupled receptor, LGR4, in bone metabolism and obesity

Manipulating GPCR heterodimerisation for novel obesity and tumour therapies

Role and Control of the Functional Specialisation of Microglia during Fungal Meningitis

Defects in Calcium-Sensing Receptor Plasma Membrane Expression Account for the Hypoparathyroidism Observed in Mitochondrial Disease

Cite this