Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.S820F
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CASR

NM_000388.4:p.S820F

Associated Papers

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

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

He F et al.

Nature, 2024

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

Wen T et al.

Science Advances, 2021

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.

García-Castaño A et al.

European Journal of Endocrinology, 2019

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Gorvin CM et al.

Human Molecular Genetics, 2018

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

Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).

Dong B et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Thim SB et al.

Acta Paediatrica (oslo, Norway : 1992), 2014

Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators.

Leach K et al.

Endocrinology, 2013

Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.

Leach K et al.

Endocrinology, 2012

Activation switch in the transmembrane domain of metabotropic glutamate receptor.

Yanagawa M et al.

Molecular Pharmacology, 2009

Inherited disorders of calcium homeostasis.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+.

Hu J et al.

The Journal of Biological Chemistry, 2005

A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

Nagase T et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].

Fukumoto S

Clinical Calcium, 2001

Activating mutations of the calcium-sensing receptor: management of hypocalcemia.

Lienhardt A et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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."