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Article

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

The Journal of investigative dermatology - 1 May 2017

Li Qiaoli, Kingman Joshua, van de Wetering Koen, Tannouri Sami, Sundberg John P, Uitto Jouni

Abstract excerpt

Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys. The fundamental question on pathogenesis of pseudoxanthoma elasticum, whether lack of ABCC6 expression in liver or kidney is the primary site of molecular pathology in peripheral tissues, has not been addressed. We generated a series of Abcc6-/- rats as...

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Source

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Identifiers

PMID: 28111129
DOI: 10.1016/j.jid.2016.11.042
PMCID: PMC6251403

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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