Article
Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.
The Journal of clinical endocrinology and metabolism - 1 Mar 2011
Fernandes-Rosa Fábio L, Hubert Edwige-Ludiwyne, Fagart Jérome, Tchitchek Nicolas, Gomes Debora, Jouanno Elodie, Benecke Arndt, Rafestin-Oblin Marie-Edith, Jeunemaitre Xavier, Antonini Sonir R, Zennaro Maria-Christina
Abstract excerpt
CONTEXT: Type 1 pseudohypoaldosteronism (PHA1), a primary form of mineralocorticoid resistance, is due to inactivating mutations of the NR3C2 gene, coding for the mineralocorticoid receptor (MR). OBJECTIVE: The objective of the study was to assess whether different NR3C2 mutations have distinct effects on the pattern of MR-dependent transcriptional regulation of aldosterone-regulated genes. DESIGN AND METHODS:...
Topics
- Aldosterone
- Gene Expression
- Gene Expression Profiling
- Heterozygote
- Humans
- Models, Molecular
- Mutation
- Pedigree
- Plasmids
- Protein Biosynthesis