Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.L723Q
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CASR

NM_000388.4:p.L723Q

Associated Papers

Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

De Coster T et al.

Journal of Endocrinological Investigation, 2025

Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1).

Hannan FM et al.

The Journal of Biological Chemistry, 2025

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Benson MR et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca2+ Sensing but Not G Protein Interaction.

Goolam MA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

Differential parathyroid and kidney Ca2+-sensing receptor activation in autosomal dominant hypocalcemia 1.

van Megen WH et al.

Ebiomedicine, 2022

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

Hannan FM et al.

Jbmr Plus, 2020

International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.

Leach K et al.

Pharmacological Reviews, 2020

The excretion of uromodulin is modulated by the calcium-sensing receptor.

Tokonami N et al.

Kidney International, 2018

Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.

Cavaco BM et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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

Babinsky VN et al.

Endocrinology, 2017

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Gorvin CM et al.

Jci Insight, 2017

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.

Mayr B et al.

Trends in Endocrinology and Metabolism: Tem, 2016

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).

Hannan FM et al.

Endocrinology, 2015

New functional aspects of the extracellular calcium-sensing receptor.

Toka HR

Current Opinion in Nephrology and Hypertension, 2014

A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia.

Lazarus S et al.

European Journal of Endocrinology, 2011

Inherited disorders of calcium homeostasis.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.

Hough TA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."