Update on the genetics of nephrolithiasis

Vezzoli, Giuseppe and Arcidiacono, Teresa and Paloschi, Vera and Terranegra, Annalisa and Biasion, Rita and Soldati, Laura Update on the genetics of nephrolithiasis. Clinical cases in mineral and bone metabolism, 5 (2). pp. 109-111. ISSN 1971-3266

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Genetic studies of calcium kidney stones evidenced the possible involvement of calcium-sensing receptor gene, vitamin D receptor gene and bicarbonate-sensitive adenylate cyclase gene, but it is uncertain which specific polymorphisms could be responsible. Thus, further studies are required to better assess the involvement of these or other genes and the interactions between different genes and between genes and environment. In addition to research in humans, the study of different strains of knock-out mice let us include the gene of phosphate reabsorption carrier NPT2, caveolin-1, protein NHERF-1, osteopontin and Tamm-Horsfall protein among the possible determinants. Further steps in the knowledge of calcium stone causes may be done using the instruments that the modern biotechnology and bioinformatics have made available to the researchers.

Item Type: Article
Uncontrolled Keywords: Kidney stones, genetics, calcium, oxalate
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 612 Fisiologia umana > 612.7 Sistema muscoloscheletrico, tegumento
Depositing User: Danilo Dezzi
Date Deposited: 17 Jan 2014 10:06
Last Modified: 17 Jan 2014 12:01
URI: http://eprints.bice.rm.cnr.it/id/eprint/5106

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