R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria

Kidney International

Volumn 71, Issue 11, 2007, Pages 1155-1162

  Vezzoli, G ^a,e   Terranegra, A ^b   Arcidiacono, T ^a   Biasion, R ^b   Coviello, D ^c   Syren, M L ^b   Paloschi, V ^a   Giannini, S ^d   Mignogna, G ^e   Rubinacci, A ^e   Ferraretto, A ^b   Cusi, D ^b,f   Bianchi, G ^a   Soldati, L ^b  

^a VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d Policlinico of Padua   (Italy)

^e SAN RAFFAELE HOSPITAL   (Italy)

^f IRCCS MULTIMEDICA   (Italy)

Author keywords

Calcium sensing receptor; Gene expression; Hypercalciuria; Ion transport; Mineral metabolism

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR;

ALLELE; ARTICLE; CALCIUM CELL LEVEL; CALCIUM EXCRETION; CELL STRAIN HEK293; CONTROLLED STUDY; EMBRYO; EXTRACELLULAR CALCIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCIURIA; NEPHROLITHIASIS; PRIORITY JOURNAL; RISK ASSESSMENT;

ALLELES; AMINO ACID SUBSTITUTION; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CELL LINE; CODON; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; FLUORESCENT DYES; FURA-2; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GLYCINE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERCALCIURIA; LINKAGE DISEQUILIBRIUM; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CALCIUM-SENSING; RISK FACTORS; TRANSFECTION;

EID: 34249310635     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5002156     Document Type: Article

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