Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.G143E
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CASR

NM_000388.4:p.G143E

Associated Papers

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

Binmahfouz LS et al.

Molecular Pharmacology, 2025

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

Tian L et al.

Chronic Diseases and Translational Medicine, 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

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Mayr B et al.

European Journal of Endocrinology, 2016

Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.

Zhang C et al.

Frontiers in Physiology, 2016

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS et al.

European Journal of Endocrinology, 2013

Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.

Grant MP et al.

Molecular Endocrinology (baltimore, Md.), 2012

Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

White E et al.

Molecular Endocrinology (baltimore, Md.), 2009

Inherited disorders of calcium homeostasis.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Modulation of interprotomer relationships is important for activation of dimeric calcium-sensing receptor.

Jiang Y et al.

The Journal of Biological Chemistry, 2004

Three adjacent serines in the extracellular domains of the CaR are required for L-amino acid-mediated potentiation of receptor function.

Zhang Z et al.

The Journal of Biological Chemistry, 2002

A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.

Nakayama T et al.

Endocrine, 2001

Extracellular calcium-sensing receptor: structural and functional features and association with diseases.

Hauache OM

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2001

Functional interactions between the extracellular domain and the seven-transmembrane domain in Ca2+ receptor activation.

Hauache OM et al.

Endocrine, 2000

Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function.

Bai M et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

Disorders of the calcium-sensing receptor.

Thakker RV

Biochimica Et Biophysica Acta, 1998

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

Bai M et al.

The Journal of Clinical Investigation, 1997

Mutations in the calcium-sensing receptor and their clinical implications.

Brown EM

Hormone Research, 1997

Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

Bai M et al.

The Journal of Biological Chemistry, 1996

Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.

Hu J et al.

Journal of Cellular and Molecular Medicine, 0

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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."