Research Explorer

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Project

Identifying mechanisms of disease variability in soft tissue mineralization disorders, using pseudoxanthoma elasticum as a model

Outputs and Outcomes

Publications

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Matthias Van GilsJustin DepauwPaul CouckeShari AertsShana VerschuereLukas NolletOlivier Vanakker

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

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

Flora SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereBeatrix MolnarQiaoli LiSharon F. TerryFederica BoraldiJouni UittoKoen van de WeteringLudovic MartinDaniela QuaglinoOlivier VanakkerKalman ToryTamas Aranyi et al.

A1 Journal Article in HUMAN MUTATION

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De BackerPaul CouckeOlivier Vanakker et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

Saku PelttariSuvi VaaramakiOlivier VanakkerShana VerschuereHannu UusitaloHeini HuhtalaTero HinkkaIlkka PorstiI Nevalainen, Pasi

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

Flora SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereQiaoli LiSharon F. TerryFederica BoraldiJouni UittoKoen van de WeteringLudovic MartinDaniela QuaglinoOlivier VanakkerKalman ToryTamas Aranyi et al.