Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.T888M
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CASR

NM_000388.4:p.T888M

Associated Papers

Both calcium-sensing receptor intracellular C-terminal domains support homodimer signaling.

Binmahfouz LS et al.

Molecular Pharmacology, 2025

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB et al.

American Journal of Human Genetics, 2025

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Allosteric modulation and G-protein selectivity of the Ca2+-sensing receptor.

He F et al.

Nature, 2024

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

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Tan RSG et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

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

Leach K et al.

Pharmacological Reviews, 2020

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

Gorvin CM

Journal of Molecular Endocrinology, 2019

Identification of Serine-875 as an Inhibitory Phosphorylation Site in the Calcium-Sensing Receptor.

Binmahfouz LS et al.

Molecular Pharmacology, 2019

High parathyroid hormone concentration in tenofovir-treated patients are due to inhibition of calcium-sensing receptor activity.

Mingione A et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2018

Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.

Obermannova B et al.

European Journal of Endocrinology, 2016

Calcium sensing receptor signalling in physiology and cancer.

Brennan SC et al.

Biochimica Et Biophysica Acta, 2013

The calcium sensing receptor life cycle: trafficking, cell surface expression, and degradation.

Breitwieser GE

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

Calcium-sensing receptor (CaSR): pharmacological properties and signaling pathways.

Conigrave AD et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

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

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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."