Associated Papers
Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.
Karakaş H et al.
Molecular Syndromology, 2025
A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.
Conigrave AD et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Role of the calcium-sensing receptor in regulating vascular function.
Albert AP et al.
Journal of Cell Communication and Signaling, 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
Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.
Zhang R et al.
Frontiers in Genetics, 2025
Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.
Semenova PI et al.
Human Cell, 2024
Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Tian L et al.
Chronic Diseases and Translational Medicine, 2024
Genetics of hereditary forms of primary hyperparathyroidism.
English KA et al.
Hormones (athens, Greece), 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Glucose/Fructose Delivery to the Distal Nephron Activates the Sodium-Chloride Cotransporter via the Calcium-Sensing Receptor.
Bahena-Lopez JP et al.
Journal of the American Society of Nephrology : Jasn, 2023
Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
Wejaphikul K et al.
Hormone Research in Paediatrics, 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
Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia.
Bhangu JS et al.
Gland Surgery, 2022
The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.
Özgüç Çömlek F et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Bernardor J et al.
Frontiers in Pediatrics, 2022
Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.
Ulloa-Aguirre A et al.
Frontiers in Endocrinology, 2022
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.
Aubert-Mucca M et al.
Bone Reports, 2021
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Activation of the calcium sensing receptor increases claudin-14 expression via a PLC -p38-Sp1 pathway.
Lee JJ et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia.
Kurian R et al.
Cureus, 2021
A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.
Leunbach TL et al.
Bone Reports, 2021
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
El Allali Y et al.
European Journal of Endocrinology, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.
Höppner J et al.
Frontiers in Endocrinology, 2021
Radiofrequency Ablation of Parathyroid Glands to Treat a Patient With Hypercalcemia Caused by a Novel Inactivating Mutation in CaSR.
Hao Y et al.
Frontiers in Endocrinology, 2021
Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor.
Palmieri S et al.
Frontiers in Medicine, 2021
[A series of clinical cases of familial hypocalciuric hypercalcemia syndrome].
Krupinova JA et al.
Problemy Endokrinologii, 2020
Hereditary Parathyroid Disease: Sometimes Pathologists Do Not Know What They Are Missing.
Turchini J et al.
Endocrine Pathology, 2020
Successful parathyroidectomy with intra-operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR gene.
Sorapipatcharoen K et al.
Journal of Paediatrics and Child Health, 2020
International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.
Leach K et al.
Pharmacological Reviews, 2020
Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.
Marx SJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation.
Gulcan-Kersin S et al.
Hormone Research in Paediatrics, 2020
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.
Forman TE et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.
Vannucci L et al.
Frontiers of Hormone Research, 2019
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM et al.
Nature Reviews. Endocrinology, 2018
Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.
Hannan FM et al.
British Journal of Pharmacology, 2018
Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population.
Zhou H et al.
Medicine, 2018
The Calcium-Sensing Receptor Increases Activity of the Renal NCC through the WNK4-SPAK Pathway.
Bazúa-Valenti S et al.
Journal of the American Society of Nephrology : Jasn, 2018
Overexpression of a functional calcium-sensing receptor dramatically increases osteolytic potential of MDA-MB-231 cells in a mouse model of bone metastasis through epiregulin-mediated osteoprotegerin downregulation.
Boudot C et al.
Oncotarget, 2017
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.
Szalat A et al.
Endocrine, 2017
Diseases associated with calcium-sensing receptor.
Vahe C et al.
Orphanet Journal of Rare Diseases, 2017
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M et al.
European Journal of Endocrinology, 2016
Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients.
Grzegorzewska AE et al.
Scientific Reports, 2016
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
Localization and function of the renal calcium-sensing receptor.
Riccardi D et al.
Nature Reviews. Nephrology, 2016
The calcium-sensing receptor and the hallmarks of cancer.
Tennakoon S et al.
Biochimica Et Biophysica Acta, 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