Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
AQP2 trafficking in health and diseases: an updated overview.
Centrone M et al.
The International Journal of Biochemistry & Cell Biology, 2022
Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Tian M et al.
Frontiers in Medicine, 2022
Renal Ca2+ and Water Handling in Response to Calcium Sensing Receptor Signaling: Physiopathological Aspects and Role of CaSR-Regulated microRNAs.
Ranieri M
International Journal of Molecular Sciences, 2019
CaSR signaling down-regulates AQP2 expression via a novel microRNA pathway in pendrin and NaCl cotransporter knockout mice.
Ranieri M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2018
High parathyroid hormone concentration in tenofovir-treated patients are due to inhibition of calcium-sensing receptor activity.
Mingione A et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2018
Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia.
Rasmussen AQ et al.
Frontiers in Endocrinology, 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
Negative feedback from CaSR signaling to aquaporin-2 sensitizes vasopressin to extracellular Ca2.
Ranieri M et al.
Journal of Cell Science, 2015
Glutathionylation of the aquaporin-2 water channel: a novel post-translational modification modulated by the oxidative stress.
Tamma G et al.
The Journal of Biological Chemistry, 2014
Excessive signal transduction of gain-of-function variants of the calcium-sensing receptor (CaSR) are associated with increased ER to cytosol calcium gradient.
Ranieri M et al.
Plos One, 2013
Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.
Schouten BJ et al.
Annals of Clinical Biochemistry, 2011
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 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
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
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