Associated Papers
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
Biorxiv : the Preprint Server for Biology, 2025
40667354 (PubMed )
Supplement: media-2.xlsx › Table_S1_Supplement
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri F et al.
Human Mutation, 2022
36317459 (PubMed )
Supplement: HUMU-43-1872-s002.xlsx › 1A
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Campens L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
23968982 (PubMed )
Supplement: atv201967_supplemental_material2_1.0.pdf
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Vanakker OM et al.
Human Mutation, 2008
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