Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.Y218S
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CASR

NM_000388.4:p.Y218S

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

38664468 (PubMed )
Supplement: 42003_2024_6189_MOESM3_ESM.xlsx › Figure_5

Structural insights into the activation of human calcium-sensing receptor.

Chen X et al.

Elife, 2021

Structural mechanism of cooperative activation of the human calcium-sensing receptor by Ca2+ ions and L-tryptophan.

Ling S et al.

Cell Research, 2021

33603117 (PubMed )
Supplement: 41422_2021_474_MOESM18_ESM.pdf

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

Structural mechanism of ligand activation in human calcium-sensing receptor.

Geng Y et al.

Elife, 2016

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

Elucidation of a novel extracellular calcium-binding site on metabotropic glutamate receptor 1{alpha} (mGluR1{alpha}) that controls receptor activation.

Jiang Y et al.

The Journal of Biological Chemistry, 2010

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

Wellendorph P et al.

British Journal of Pharmacology, 2009

Multiple Ca(2+)-binding sites in the extracellular domain of the Ca(2+)-sensing receptor corresponding to cooperative Ca(2+) response.

Huang Y et al.

Biochemistry, 2009

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

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

Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor.

Huang Y et al.

The Journal of Biological Chemistry, 2007

Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor.

Silve C et al.

The Journal of Biological Chemistry, 2005

Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation.

Cetani F et al.

Clinical Endocrinology, 2003

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

[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

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

Hauache OM et al.

Endocrine, 2000

[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

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

Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

Pearce SH et al.

The Journal of Clinical Investigation, 1996

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Pearce SH et al.

The Journal of Clinical Investigation, 1995

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."