Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis

Giovanni Gambaro

Research output: Contribution to journalArticlepeer-review

41 Citations (Scopus)

Abstract

CaSR gene is a candidate for calcium nephrolithiasis. Single-nucleotide polymorphisms (SNPs) encompassing its regulatory region were associated with calcium nephrolithiasis.
Original languageEnglish
Pages (from-to)3839-3847
Number of pages9
JournalTHE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Volume98
DOIs
Publication statusPublished - 2013

Keywords

  • Adult
  • Alleles
  • Case-Control Studies
  • Female
  • Genotype
  • HEK293 Cells
  • Humans
  • Hypercalciuria
  • Kidney
  • Male
  • Middle Aged
  • Mutagenesis, Site-Directed
  • Nephrolithiasis
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Receptors, Calcium-Sensing
  • Transcription, Genetic

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