The INTEC Science
To obtain fundamental knowledge of ectopic calcification
mechanisms and translate science to the clinic
EC Data & Analytics Platform
The Ectopic Calcification Data and Analytics Platform (EC-DAP) entails clinical databases and survey tools concerning patients with ectopic mineralization diseases. EC-DAP has a section for clinicians and a section for patients.
Publications
2023
- Van Gils M, Depauw J, Coucke P, Aerts S, Verschuere S, Nollet L, Vanakker OM. Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers, but do not correlate with the genotype or phenotype. J. Clin. Med. 2023 In press.
2022
- Nollet L, Vanakker OM. Mitochondrial dysfunction and oxidative stress in hereditary ectopic calcification diseases. Int. J. Mol. Sci. 2022; 23 (23): 15288.
- Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. 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. Hum. Mutat. 2022; 43(12): 1872-1881.
- Nollet L, Van Gils M, Fischer S, Campens L, Karthik S, Pasch A, De Zaeytijd J, Leroy BP, Devos D, De Backer T, Coucke PJ, Vanakker OM. Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum. J. Clin. Med. 2022; 11(13): 3727.
- Nevalainen PI, Pelttari S, Väärämäki S, Vanakker OM, Verschuere S, Uusitalo H, Huhtala H, Pörsti I. Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study. Orph. J. Rare Dis. 2022; 17: 185.