Article
A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.
Human mutation - 1 Jun 2017
Ure Megan E, Heydari Emma, Pan Wanling, Ramesh Ajay, Rehman Sabah, Morgan Catherine, Pinsk Maury, Erickson Robin, Herrmann Johannes M, Dimke Henrik, Cordat Emmanuelle, Lemaire Mathieu, Walter Michael, Alexander R Todd
Abstract excerpt
The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Recently, renal CLDN14 expression was found to increase in response to increased plasma calcium, thereby inducing...
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