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

Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset.

Clinical chemistry - 1 Oct 2007

Zarbock Ralf, Hendig Doris, Szliska Christiane, Kleesiek Knut, Götting Christian

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder characterized by progressive calcification and fragmentation of elastic fibers in connective tissues. PXE is caused by mutations in the ABCC6 gene, which encodes the membrane transporter multidrug resistance-associated protein 6. Chronic oxidative stress was recently suggested to play a crucial role in the pathogenesis of the disease. Our...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Catalase
Share to Glutathione Peroxidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glutathione Peroxidase GPX1

Share to Heterozygote

Share to Oxidative Stress

Share to Pseudoxanthoma Elasticum

Share to Superoxide Dismutase

Source

Identifiers

PMID: 17693525
DOI: 10.1373/clinchem.2007.088211

Genes

CAT
GPX1
SOD2
ABCC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset.PMID 17693525Read ↗

Parameters of oxidative stress are present in the circulation of PXE patients.Semantic proximity Read ↗

Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.Semantic proximity Read ↗

SPP1 Promoter Polymorphisms: Identification of the First Modifier Gene for Pseudoxanthoma ElasticumSemantic proximity Read ↗

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.Semantic proximity Read ↗

Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum.Semantic proximity Read ↗

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].Semantic proximity Read ↗

Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?Semantic proximity Read ↗

Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.Semantic proximity Read ↗

Molecular genetics of pseudoxanthoma elasticum.Semantic proximity Read ↗

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.Semantic proximity Read ↗

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.Semantic proximity Read ↗

Analysis of clinical symptoms and ABCC 6 mutations in 76 Japanese patients with pseudoxanthoma elasticumSemantic proximity Read ↗

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