Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R795W
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CASR

NM_000388.4:p.R795W

Associated Papers

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

Promiscuous G-protein activation by the calcium-sensing receptor.

Zuo H et al.

Nature, 2024

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.

Jensterle M et al.

Frontiers in Endocrinology, 2023

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

Calcium sensing receptor stimulates breast cancer cell migration via the Gβγ-AKT-mTORC2 signaling pathway.

Orduña-Castillo LB et al.

Journal of Cell Communication and Signaling, 2022

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

Ulloa-Aguirre A et al.

Frontiers in Endocrinology, 2022

Physiologic Regulation of Systemic Klotho Levels by Renal CaSR Signaling in Response to CaSR Ligands and pH o.

Yoon J et al.

Journal of the American Society of Nephrology : Jasn, 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

Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.

Hendy GN et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Calcium-sensing receptor inhibits TGF-β-signaling by decreasing Smad2 phosphorylation.

Organista-Juárez D et al.

Iubmb Life, 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

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

Grant MP et al.

Molecular Endocrinology (baltimore, Md.), 2012

Calcium-sensing receptor modulates extracellular Ca(2+) entry via TRPC-encoded receptor-operated channels in human aortic smooth muscle cells.

Chow JY et al.

American Journal of Physiology. Cell Physiology, 2011

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

Ma JN et al.

The Journal of Pharmacology and Experimental Therapeutics, 2011

Calcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1.

Cha SK et al.

The Journal of Biological Chemistry, 2011

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

White E et al.

Molecular Endocrinology (baltimore, Md.), 2009

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole DE et al.

Journal of Molecular Endocrinology, 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

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

Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

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

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

D'Souza-Li L et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

Paradoxical block of parathormone secretion is mediated by increased activity of G alpha subunits.

Quitterer U et al.

The Journal of Biological Chemistry, 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 importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor.

Jensen AA et al.

The Journal of Biological Chemistry, 2000

[Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia].

Friis IM et al.

Ugeskrift for Laeger, 2000

Amino acids in the second and third intracellular loops of the parathyroid Ca2+-sensing receptor mediate efficient coupling to phospholipase C.

Chang W et al.

The Journal of Biological Chemistry, 2000

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.

Carling T et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.

Schwarz P et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 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

[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

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

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

Calcium-sensing receptor mutations: insights into a structurally and functionally novel receptor.

Pearce SH et al.

The Journal of Clinical Endocrinology and Metabolism, 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

[The functions of calcium-sensing receptor in regulating mineral metabolism.]

Kinoshita Y

Clinical Calcium, 0

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