Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
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
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
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 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
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
Gorvin CM et al.
Science Signaling, 2018
Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient.
Wu B et al.
Bone Research, 2017
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
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
Towards a structural understanding of allosteric drugs at the human calcium-sensing receptor.
Leach K et al.
Cell Research, 2016
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 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
Engendering biased signalling from the calcium-sensing receptor for the pharmacotherapy of diverse disorders.
Leach K et al.
British Journal of Pharmacology, 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
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
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
Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations.
Jiang R et al.
American Journal of Human Genetics, 2007
Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.
Tang CM et al.
Expert Opinion on Therapeutic Targets, 2005
Somatic mutations of epidermal growth factor receptor in colorectal carcinoma.
Nagahara H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005
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 novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.
Uçkun-Kitapçi A et al.
American Journal of Medical Genetics. Part A, 2005
The role of cysteines and charged amino acids in extracellular loops of the human Ca(2+) receptor in cell surface expression and receptor activation processes.
Ray K et al.
Endocrinology, 2004
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