Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

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

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.

Affiliation

Loh NY; Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism-OCDEM, Churchill Hospital, Headington, Oxford, United Kingdom.

PLoS One ; 8(1): e55412, 2013.

Article in En | MEDLINE | ID: mdl-23383183

Subject(s)

Calcium Channels/genetics; Genetic Predisposition to Disease/genetics; Hypercalciuria/genetics; Phenotype; TRPV Cation Channels/genetics; Animals; Base Sequence; Calbindins; Chromosome Mapping; Genes, Dominant/genetics; Hypercalciuria/pathology; Immunohistochemistry; Mice; Molecular Sequence Data; Mutation, Missense/genetics; S100 Calcium Binding Protein G/metabolism; Sequence Analysis, DNA

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Full text: 1 Database: MEDLINE Main subject: Phenotype / Calcium Channels / Genetic Predisposition to Disease / TRPV Cation Channels / Hypercalciuria Type of study: Prognostic_studies Limits: Animals Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2013 Type: Article Affiliation country: United kingdom

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