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Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|August 28, 2010
Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motifAnn Stepanchick, Jennifer McKenna, Olivia McGovern, et al.
Endocrinology|January 27, 2007
Functional desensitization of the extracellular calcium-sensing receptor is regulated via distinct mechanisms: role of G protein-coupled receptor kinases, protein kinase C and beta-arrestinsStephan Lorenz, Romy Frenzel, Ralf Paschke, et al.
The Journal of Biological Chemistry|December 9, 2003
Homology modeling of the transmembrane domain of the human calcium sensing receptor and localization of an allosteric binding siteSusanne U Miedlich, Lucio Gama, Klaus Seuwen, et al.
Biochemical and Biophysical Research Communications|November 19, 2003
Human calcium-sensing receptor can be suppressed by antisense sequencesDavid Maldonado-Pérez, Gerda E Breitwieser, Lucio Gama, et al.
The Journal of Biological Chemistry|October 20, 2019
Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein-coupled receptorsRidge Dershem, Raghu P R Metpally, Kirk Jeffreys, et al.
Human Molecular Genetics|January 12, 2018
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signallingCaroline M Gorvin, Raghu Metpally, Victoria J Stokes, et al.
American Journal of Human Genetics|May 11, 2020
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare PopulationRidge Dershem, Caroline M Gorvin, Raghu P R Metpally, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|April 3, 2024
Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and MigraineGerda E Breitwieser, Andrea Cippitelli, Yingcai Wang, et al.
Biorxiv : the Preprint Server for Biology|July 18, 2023
Rare GPR37L1 variants reveal potential roles in anxiety and migraine disordersGerda E Breitwieser, Andrea Cippitelli, Yingcai Wang, et al.
Cell Reports|February 9, 2018
AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein SelectivityCaroline M Gorvin, Angela Rogers, Benoit Hastoy, et al.
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