Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R66C
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CASR

NM_000388.4:p.R66C

Associated Papers

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

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

Ulloa-Aguirre A et al.

Frontiers in Endocrinology, 2022

Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.

Wen T et al.

Science Advances, 2021

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

Is calcium signaling relevant for long bone growth?

Marcucci G et al.

Bone, 2013

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

Characterization of highly efficacious allosteric agonists of the human calcium-sensing receptor.

Ma JN et al.

The Journal of Pharmacology and Experimental Therapeutics, 2011

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

White E et al.

Molecular Endocrinology (baltimore, Md.), 2009

Molecular basis for amino acid sensing by family C G-protein-coupled receptors.

Wellendorph P et al.

British Journal of Pharmacology, 2009

Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis.

Huang Y et al.

The Journal of Biological Chemistry, 2007

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

Tao YX

Pharmacology & Therapeutics, 2006

Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

Pidasheva S et al.

Human Molecular Genetics, 2006

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.

Pearce SH

Annals of Medicine, 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

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Hendy GN et al.

Human Mutation, 2000

A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

Okazaki R et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

[Controversial opinions regarding the role of Bcml vitamin D receptor gene polymorphism on parathyroid function, calcium absorption and bone mineral density in persons with normal renal function and patients with chronic renal failure].

Maik J et al.

Przeglad Lekarski, 1999

Molecular biology and clinical importance of the Ca(2+)-sensing receptor.

De Luca F et al.

Current Opinion in Pediatrics, 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

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.

Pearce SH et al.

Clinical Endocrinology, 1996

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

The calcium-sensing receptor (CaR) and its disorders.

Brown EM

Hormones (athens, Greece), 0

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."