Associated Papers
Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree.
Tian Y et al.
Genes & Diseases, 2026
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
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
He T et al.
Frontiers in Endocrinology, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 2024
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Bernardor J et al.
Frontiers in Pediatrics, 2022
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C et al.
Clinical Endocrinology, 2020
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
Genetic variation in human drug-related genes.
Schärfe CPI et al.
Genome Medicine, 2017
Phenotype of Dent Disease in a Cohort of Indian Children.
Bhardwaj S et al.
Indian Pediatrics, 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
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.
Nakamura A et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Dissimilar PTH, gastrin, and calcitonin responses to oral calcium and peptones in hypocalciuric hypercalcemia, primary hyperparathyroidism, and normal subjects: a useful tool for differential diagnosis.
Bevilacqua M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
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
ClC-5 chloride channel and kidney stones: what is the link?
Silva IV et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2001
Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).
Takemura T et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2001
A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria.
Jap TS et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Chloride channels in renal disease.
Thakker RV
Advances in Nephrology From the Necker Hospital, 1999
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
Lloyd SE et al.
The Journal of Clinical Investigation, 1997
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
Thakker RV
Experimental Nephrology, 0