Calcium-sensing receptor gene
Calcium-sensing receptor gene (CASR) polymorphisms and CASR transcript level concerning dyslipidemia in hemodialysis patients: a cross-sectional study
... of calcium- sensing receptor gene (CASR) are predominantly asso- ciated with phenotypes of primary [4] and secondary hyperparathyroidism [5–8], and with idiopathic cal- cium nephrolithiasis ...
14
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
... CaSR gene mutation, not associated to HPT, likely exclude HPT-Jaw tumor ...mutant receptor, compared to the WT, the 972 M mutant resulted strongly impaired even at higher Ca ++ concentration (10 mM), with a ...
6
A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations
... Family tree and clinical parameters of the family with SPINK1 (N34S) and CASR (518T>C) gene mutations Two family members were diagnosed with chronic pancreatitis and FHH (II:2 and II:4). Mutational analysis of ...
8
A novel mutation in the calcium sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
... This 80-year-old woman was noted to have hypercalce- mia, relative hypocalciuria, and an elevated PTH level. Possible explanations for this include the milk-alkali syn- drome, the use of lithium or thiazide diuretics, ...
5
Parathyroid Embryology, Anatomy, and Pathophysiology of Primary Hyperparathyroidism
... the calcium sensing receptor gene have resulted in the confirmation of the key role that the calcium sensing receptor plays in calcium homeostasis [88] ...the ...
20
Biological Function of Calcium-Sensing Receptor (CAS) and Its Coupling Calcium Signaling in Plants
... the calcium-sensing receptor gene (OsCAS) is also closely associated with drought ...OsCAS gene shows better resistance to drought stress by decreasing damage to the cell membrane, ...
16
The calcium-sensing receptor regulates parathyroid hormone gene expression in transfected HEK293 cells
... Over-expression of the CaR decreases PTH mRNA levels in co-transfected HEK293 cells. HEK293 cells were transiently co-transfected in triplicate with expression plasmids for the hPTH gene and control GFP or GH and ...
13
Original Article The effects of calcium-sensing receptor (CASR) gene variants on colorectal cancer (CRC) risk and mortality: a systematic review and meta-analysis
... [22] Kapur K, Johnson T, Beckmann ND, Sehmi J, Tanaka T, Kutalik Z, Styrkarsdottir U, Zhang W, Marek D, Gudbjartsson DF, Milaneschi Y, Holm H, Diiorio A, Waterworth D, Li Y, Singleton AB, Bjornsdottir US, Sigurdsson G, ...
7
Quantitative assessment of the clinical susceptibility of calcium-sensing receptor polymorphisms in cancer patients
... among gene–gene, and even gene– environment) may potentially impact on our results and result in ...of calcium intake, which could affect our present ...
9
Diseases associated with calcium-sensing receptor
... numerous ligands, to interact with multiple G-proteins, and to regulate highly divergent downstream signalling pathways and cell fate, through epigenetics and miRNA [1]. Besides Ca 2+ , the ligands include other divalent ...
9
Regulation of murine fetal placental calcium metabolism by the calcium sensing receptor
... blood calcium in CaSR 2/2 and CaSR 1/2 fetuses is ...tubular calcium handling. As a rough index of renal calcium excretion, the total and ionized calcium concentration was measured in amniotic ...
10
Alterations in phosphorus, calcium and PTHrP contribute to defects in dental and dental alveolar bone formation in calcium sensing receptor deficient mice
... Tail fragment genomic DNA was isolated by standard phenol-chloroform extraction and isopropanol precipitation. To determine the genotype at the CaR, Pth and 1a(OH)ase loci, six PCR amplification reactions were conducted. ...
8
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients
... The calcium-sensing receptor (CASR) is a 1078 amino acid cell surface protein with a large extracellular domain that tightly regulates calcium homeostasis ...extracellular calcium ...
7
Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism
... cause. This disease occurs as a common component of the type I autoimmune polyglandular syndrome (APS I) which pre- sents in infants or young children. It may also appear as a spo- radic disease in adults, most often in ...
6
Calcium sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
... Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor ...
11
The calcium sensing receptor regulates mammary gland parathyroid hormone–related protein production and calcium transport
... systemic calcium and adjust PTHrP production in lactating ...dietary calcium restriction to manipulate serum calcium levels in lactating mice and measured the resultant production of PTHrP by the ...
12
Calcium sensing receptor and calcium kidney stones
... CaSR gene polymorph- isms may be involved in calcium nephrolithiasis, but propose an intriguing scenario in which stone formation appears to be favored by an activating polymorphism (R990G) and by ...
9
SINGLE NUCLEOTIDE POLYMORPHISMS OF CALCIUM SENSING RECEPTOR ENCODING GENE ASSOCIATED WITH CALCIUM KIDNEY STONE DISEASE IN BABYLON PROVINCE
... containing calcium. A change of kidney systems of calcium eliminations is the foremost cause for ...a receptor is expressed within the cell basolateral shows essential roles within the directive ...
5
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+ sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
... cases of NHPT in children with one FBHH parent the affected parent has been the father (3, 7, 14–18). Indeed, patient A-26 in the kindred with the same R185Q mutation (30) as in our patient inherited the abnormal CaR ...
10
Role of key players in paradigm shifts of prostate cancer bone metastasis
... regulating calcium concentration, both aforementioned pep- tide mediators encourage osteolysis by binding to PTH-1R receptor on ...decoy receptor, osteoprotegrin, by ...
9