Article
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
PloS one - 1 Jan 2013
Loh Nellie Y, Bentley Liz, Dimke Henrik, Verkaart Sjoerd, Tammaro Paolo, Gorvin Caroline M, Stechman Michael J, Ahmad Bushra N, Hannan Fadil M, Piret Sian E, Evans Holly, Bellantuono Ilaria, Hough Tertius A, Fraser William D, Hoenderop Joost G J, Ashcroft Frances M, Brown Steve D M, Bindels René J M, Cox Roger D, Thakker Rajesh V
Abstract excerpt
Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of large families, and to facilitate such studies, we screened for hypercalciuria in mice from an N-ethyl-N-nitrosourea mutagenesis programme. We identified a mouse with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.