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A common polymorphism in the bile acid receptor farnesoid X receptor is associated with decreased hepatic target gene expression.

Molecular endocrinology (Baltimore, Md.) - 1 Aug 2007

Marzolini Catia, Tirona Rommel G, Gervasini Guillermo, Poonkuzhali Balasubramanian, Assem Mahfoud, Lee Wooin, Leake Brenda F, Schuetz John D, Schuetz Erin G, Kim Richard B

Abstract excerpt

The farnesoid X receptor (FXR or NR1H4) is an important bile-acid-activated, transcriptional regulator of genes involved in bile acid, lipid, and glucose homeostasis. Accordingly, interindividual variations in FXR expression and function could manifest as variable susceptibility to conditions such as cholesterol gallstone disease, atherosclerosis, and diabetes. We performed an FXR polymorphism discovery analysis...

Topics

Alleles
Amino Acid Sequence
Bile Acids and Salts
DNA-Binding Proteins
Gene Expression Regulation
Humans
Liver
Molecular Sequence Data
Polymorphism, Genetic
Protein Isoforms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Cytoplasmic and Nuclear

Transcription Factors

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Identifiers

PMID: 17519356
DOI: 10.1210/me.2007-0025

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