Ontology highlight
ABSTRACT:
SUBMITTER: Lainez S
PROVIDER: S-EPMC3953905 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Lainez Sergio S Schlingmann Karl Peter KP van der Wijst Jenny J Dworniczak Bernd B van Zeeland Femke F Konrad Martin M Bindels René J RJ Hoenderop Joost G JG
European journal of human genetics : EJHG 20130814 4
Despite recent progress in our understanding of renal magnesium (Mg(2+)) handling, the molecular mechanisms accounting for transepithelial Mg(2+) transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg(2+) channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg(2+) levels ...[more]