Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.C129S
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CASR

NM_000388.4:p.C129S

Associated Papers

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

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Absence of calcium-sensing receptor basal activity due to inter-subunit disulfide bridges.

Ma S et al.

Communications Biology, 2024

Nanobodies as negative allosteric modulators for human calcium sensing receptor.

Cui Q et al.

Biochemical and Biophysical Research Communications, 2024

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

Wu Y et al.

The Journal of International Medical Research, 2022

35818129 (PubMed )
Supplement: sj-pdf-1-imr-10.1177_03000605221110489.pdf

Mechanism of sensitivity modulation in the calcium-sensing receptor via electrostatic tuning.

Schamber MR et al.

Nature Communications, 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

Activation of the calcium sensing receptor increases claudin-14 expression via a PLC -p38-Sp1 pathway.

Lee JJ et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

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

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

Roberts MS et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Persistent Activation of Calcium-Sensing Receptor Suppresses Bone Turnover, Increases Microcracks, and Decreases Bone Strength.

Dong B et al.

Jbmr Plus, 2019

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

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

Zhang C et al.

Frontiers in Physiology, 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

The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.

Hendy GN et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

Extrapyramidal symptoms and advanced calcification of the basal ganglia in a patient with autosomal dominant hypocalcemia.

Kurozumi A et al.

Internal Medicine (tokyo, Japan), 2013

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.

Yi HS et al.

Clinical Endocrinology, 2012

The calcium-sensing receptor: physiology, pathophysiology and CaR-based therapeutics.

Brown EM

Sub-cellular Biochemistry, 2007

The calcium-sensing receptor in normal physiology and pathophysiology: a review.

Tfelt-Hansen J et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review.

Gunn IR et al.

Annals of Clinical Biochemistry, 2004

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

Jiang Y et al.

The Journal of Biological Chemistry, 2004

A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.

Shiohara M et al.

European Journal of Pediatrics, 2004

[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

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.

Hirai H et al.

Journal of Human Genetics, 2001

Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor.

Ray K et al.

The Journal of Biological Chemistry, 1999

Mutational analysis of the cysteines in the extracellular domain of the human Ca2+ receptor: effects on cell surface expression, dimerization and signal transduction.

Fan GF et al.

Febs Letters, 1998

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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."