Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The human peroxisome proliferator-activated receptor alpha gene: identification and functional characterization of two natural allelic variants.

Pharmacogenetics - 1 Jun 2000

Sapone A, Peters J M, Sakai S, Tomita S, Papiha S S, Dai R, Friedman F K, Gonzalez F J

Abstract excerpt

Peroxisome proliferator-activated receptor (PPAR)alpha-null mice have a defect in fatty acid metabolism but reproduce normally. The lack of a detrimental effect of the null phenotype in development and reproduction opens up the possibility for null or variant PPARalpha gene (PPARA) alleles in humans. To search the coding region and splice junctions for mutant and variant PPARalpha alleles, the human PPARalpha...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Mice, Knockout

Share to Point Mutation

Share to Receptors, Cytoplasmic and Nuclear

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 10862523
DOI: 10.1097/00008571-200006000-00006

Genes

PPARA
CGA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The human peroxisome proliferator-activated receptor alpha gene: identification and functional characterization of two natural allelic variants.PMID 10862523Read ↗

PPARs: Regulators of Metabolism and As Therapeutic Targets in Cardiovascular disease. Part I: PPAR-αSemantic proximity Read ↗

Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia.Semantic proximity Read ↗

The truncated splice variant of peroxisome proliferator-activated receptor alpha, PPARα-tr, autonomously regulates proliferative and pro-inflammatory genesSemantic proximity Read ↗

Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.Semantic proximity Read ↗

Identification of a truncated alternative splicing variant of human PPARgamma1 that exhibits dominant negative activity.Semantic proximity Read ↗

A Pharmacogenetic Approach to the Treatment of Patients With PPARG MutationsSemantic proximity Read ↗

Structural determinants of the agonist-independent association of human peroxisome proliferator-activated receptors with coactivators.Semantic proximity Read ↗

International Union of Pharmacology. LXI. Peroxisome proliferator-activated receptors.Semantic proximity Read ↗

A dominant-negative peroxisome proliferator-activated receptor gamma (PPARgamma) mutant is a constitutive repressor and inhibits PPARgamma-mediated adipogenesis.Semantic proximity Read ↗

Functional implications of genetic variation in human PPARgamma.Semantic proximity Read ↗

Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes.Semantic proximity Read ↗

Peroxisome Proliferator‐activated Receptors: Stuctures and FunctionSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.