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

Giovanni Gambaro, Giuseppe Vezzoli, Annalisa Terranegra, Andrea Aloia, Teresa Arcidiacono, Luciano Milanesi, Ettore Mosca, Alessandra Mingione, Donatella Spotti, Daniele Cusi, Jianghui Hou, Geoffrey N. Hendy, Laura Soldati

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

41 Citazioni (Scopus)

Abstract

CaSR gene is a candidate for calcium nephrolithiasis. Single-nucleotide polymorphisms (SNPs) encompassing its regulatory region were associated with calcium nephrolithiasis.
Lingua originaleEnglish
pagine (da-a)3839-3847
Numero di pagine9
RivistaTHE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Volume98
DOI
Stato di pubblicazionePubblicato - 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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