Ara

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Synonyms for Ara

References in periodicals archive ?
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Patients were divided into 2 groups according to the type of PXE-causative mutations in the ABCC6 gene.
The combined effects on age of disease onset of activity-affecting variants of genes encoding antioxidant enzymes and ABCC6 mutations likely to cause complete loss of MRP6-transport activity also suggest the involvement of MRP6 in the regulation of oxidative stress; however, these arguments will continue to be speculative as long as the physiological substrate of MRP6 remains unidentified.
Cystic fibrosis is caused by mutations in CFTR (cystic fibrosis transmembrane conductance regulator), member 7 of the same ABC transporter subfamily as ABCC6.
We and others have identified more than 100 PXE-associated mutations in the PXE candidate gene ABCC6 (9-16).
These findings support the hypothesis that the ABCC6 gene might have a regulatory role in maintaining cellular and matrix homeostasis and that PXE may be regarded as an inherited metabolic disorder.