The Importance of Functionally Characterizing Calcium-Sensing Receptor Variants in Individuals With Hypercalcemia-Reference-Cited by-同舟云学术

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

Published:2022-04-04 Issue:6 Volume:6 Page:
ISSN:2472-1972
Container-title:Journal of the Endocrine Society
language:en
Short-container-title:

Author:

Gorvin Caroline M¹²^ORCID

Affiliation:

1. Centre of Membrane Proteins and Receptors (COMPARE), University of Birmingham, Birmingham, UK

2. Institute of Metabolism and Systems Research (IMSR) and Centre for Diabetes, Endocrinology and Metabolism (CEDAM), University of Birmingham, Birmingham, UK

Funder

Academy of Medical Sciences Springboard Award

British Heart Foundation

Diabetes UK

Global Challenges Research Fund

Government Department of Business, Energy and Industrial Strategy

Wellcome Trust

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

Link

https://academic.oup.com/jes/advance-article-pdf/doi/10.1210/jendso/bvac052/43248059/bvac052.pdf

Reference8 articles.

1. Molecular and clinical insights from studies of calcium-sensing receptor mutations;Gorvin;J Mol Endocrinol.,2019

2. Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop;Eastell;J Clin Endocrinol Metab.,2014

3. Identification of rare and frequent variants of the CASR gene by high-resolution melting;Nissen;Clin Chim Acta.,2012

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med.,2015

5. Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population;Dershem;Am J Hum Genet.,2020