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.
Ectopic calcification E-books
Publications
2026
- Kempf H, Aelbrecht K, Beck-Cormier S, Lefthériotis G, Nollet L, Szeri F, Varadi A, Vanakker OM. 2025 Joint Ectopic Calcification Meeting (JECM)—Abstract Proceedings. Gout, Urate, and Crystal Deposition Disease. 2026
- Martin L, Spiering W, Aelbrecht K, Aranyi T, Duranton C, Kiss N, Letavernier E, Medvecz M, Pfau M, Nevailainen PI, Nollet L, Murro V, Szeri F, Väärämäki S, Lefthériotis G, Vanakker OM; REACT-PXE Consortium. A consensus on diagnosis and future research of pseudoxanthoma elasticum (PXE). Ann Dermatol Vénéreol. 2025. In press.
2025
- Cancela ML, Alouane A, Bertelli PM, Camacho A, Derudder R, Forlino A, Harris MP, Jacinto M, Lengyel I, Link W, et al. 2024 Annual Meeting of the International Network on Ectopic Calcification (INTEC)—Abstract Proceedings. Gout, Urate, and Crystal Deposition Disease. 2025; 3(3):14
- Nollet L, Pauwels R, Vanakker OM. ABCC6-related left ventricular papillary muscle calcification. JACC Case Rep. 2025.
- Verschuere S, Symoens S, Syx D, Coucke P, Vanakker OM. The importance of being earnest: putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective. J Invest Dermatol. 2025.
- Cancela ML, Alouane A, Bertelli PM, Camacho A, Derudder R, Forlino A, Harris MP, Jacinto M, Lengyel I, Link W, Murshed M, Pasch A, Kaliya-Perumal A-K, Quaglino D, Qin Z, Sabbagh Y, Seminari E, Villar MM, Winkler C, Vanakker OM. 2024 Annual Meeting of the International Network on Ectopic Calcification (INTEC) – Abstract Proceedings. Gout Urate Crystal Depos Dis. 2025.
- Lofaro FD, Mazzilli A, Bonacorsi S, Quaglino D, Boraldi F. Calcification of the elastic component: the impact on the cardiovascular system. Front Cardiovasc Med. 2025 Aug 25;12:1636812.
- Baptista E, Hugon R, Marano A, Bianchi A, Kempf H. A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases. Curr Osteoporos Rep. 2025 Aug 6;23(1):34.
- Phadwal K, Tang Q, Kurian D, Tan X, Cawthorn WP, MacRae VE. Nutrient restriction protects against valve interstitial cell calcification by upregulating ubiquitin mediated proteolysis. Front Cardiovasc Med. 2025 Jul 21;12:1586775.
- Tang Q, Tang K, Markby G, Parys M, Phadwal K, MacRae VE, Corcoran B. Autophagy regulates cellular senescence by mediating the degradation of CDKN1A/p21 and CDKN2A/p16 through SQSTM1/p62-mediated selective autophagy in myxomatous mitral valve degeneration. Autophagy. 2025;21(8):1473–1490.
- Boraldi F, Lofaro FD, Bonacorsi S, Mazzilli A, Garcia-Fernandez M, Quaglino D. The Role of Fibroblasts in Skin Homeostasis and Repair. Biomedicines. 2024 Jul 17;12(7):1586.
- Ferreira CR, Hackbarth ME, Nitschke Y, Botschen U, Gafni RI, Mughal MZ, Baujat G, Schnabel D, Schou IM, Khursigara G. Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2. JBMR Plus. 2025 May;9(5):ziaf019.
- Wang Y, He S, Lan L, Yu H, Zhao H, Xie Y, Zhong G, Yuan L, Li K, Hu X, Macrae VE, Fu X, Chen G, Zhu D. The N6-methyladenosine demethylase ALKBH5 is a novel epigenetic regulator of aortic valve calcification. Cardiovasc Res. 2025 Apr 15;121(1):190–204
- Ferrer MD, Pérez-Ferrer MDM, Blasco M, Jacobs IJ, Li Q, Vanakker OM, Dangreau L, López A, Malagraba G, Bassissi F, Perelló J, Salcedo C. Hexasodium Fytate (SNF472 or CSL525) inhibits ectopic calcification in various pseudoxanthoma elasticum and calcinosis cutis animal models. Pharmaceuticals (Basel). 2025 Apr 14;18(4):567.
- Hsu S-N, Stephen LA, Phadwal K, Dillon S, Carter R, Morton NM, Luijten I, Emelianova K, Amin AK, Macrae VE, Freeman TC, Hsu Y-J, Staines KA, Farquharson C. Mitochondrial dysfunction and mitophagy blockade contribute to renal osteodystrophy in chronic kidney disease-mineral bone disorder. Kidney Int. 2025 Feb 6.
2024
- Noor Ul Ayan H, Nitschke Y, Mughal AR, Thiele H, Malik NA, Hussain I, Haider SMI, Rutsch F, Erdmann J, Tariq M, Aherrahrou Z, Ahmad I. Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy. BMC Pediatr. 2024 Nov 13;24(1):733.
- Yu H, Xie Y, Lan L, Ma S, Mok SWF, Wong IN, Wang Y, Zhong G, Yuan L, Zhao H, Hu X, Macrae VE, He S, Chen G, Zhu D. Sirt7 protects against vascular calcification via modulation of reactive oxygen species and senescence of vascular smooth muscle cells. Free Radic Biol Med. 2024 Oct;223:30-41.
- Salis Torres A, Lee JE, Caporali A, Semple RK, Horrocks MH, MacRae VE. Mitochondrial Dysfunction as a Potential Mechanism Mediating Cardiac Comorbidities in Parkinson's Disease. Int J Mol Sci. 2024 Oct 12;25(20):10973.
- Pfau K, Lengyel I, Ossewaarde-van Norel J, van Leeuwen R, Risseeuw S, Leftheriotis G, Scholl HPN, Feltgen N, Holz FG, Pfau M. Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation. Prog Retin Eye Res. 2024 Sep;102:101274.
- Dangreau L, Hosen MJ, De Zaeytijd J, Leroy BP, Coucke PJ, Vanakker OM. Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses: report of two cases with pseudoxanthoma elasticum and literature review. Curr Issues Mol Biol. 2024 Sep 11;46(9):9998–10007
- MacRae VE. The Adaptive Immune System: A New Pseudoxanthoma Elasticum Protagonist? J Invest Dermatol. 2024 Aug;144(8):1670-1672.
- Tchernychev B, Nitschke Y, Chu D, Sullivan C, Flaman L, O'Brien K, Howe J, Cheng Z, Thompson D, Ortiz D, Rutsch F, Sabbagh Y. Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis. Cells. 2024 Jun 29;13(13):1128.
- Dangreau L, Nitschke Y, Rutsch F, Vanakker OM. Rapidly Progressive Peripheral Artery Disease: Importance of Oligogenic Inheritance and Functional Validation. Circ Genom Precis Med . 2024 Jun 25:e004574.
- Lofaro FD, Costa S, Simone ML, Quaglino D, Boraldi F. Fibroblasts' secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification. Commun Biol. 2024 May 16;7(1):577.
- Wang Y, He S, Lan L, Yu H, Zhao H, Xie Y, Zhong G, Yuan L, Li K, Hu X, Macrae VE, Fu X, Chen G, Zhu D. The N6-methyladenosine demethylase ALKBH5 is a novel epigenetic regulator of aortic valve calcification. Cardiovasc Res. 2025 Apr 15;121(1):190-204.
- Qin Z, Bäck M, Franco-Cereceda A, Pawelzik SC. Increased calcification by erythrophagocytosis in aortic valvular interstitial cells. ESC Heart Fail. 2025 Apr;12(2):1469-1473
2023
- Roth L, Dogan S, Tuna BG, Aranyi T, Benitez S, Borrell-Pages M, Bozaykut P, De Meyer GRY, Duca L, Durmus N, Fonseca D, Fraenkel E, Gillery P, Giudici A, Jaisson S, Johansson M, Julve J, Lucas-Herald AK, Martinet W, Maurice P, McDonnell BJ, Ozbek EN, Pucci G, Pugh CJA, Rochfort KD, Roks AJM, Rotllan N, Shadiow J, Sohrabi Y, Spronck B, Szeri F, Terentes-Printzios D, Tunc Aydin E, Tura-Ceide O, Ucar E, Yetik-Anacak G. Pharmacological modulation of vascular ageing: A review from VascAgeNet. Ageing Res Rev. 2023 Dec;92:102122. doi: 10.1016/j.arr.2023.102122.
- Huysseune A, Larsen UG, Larionova D, Matthiesen CL, Petersen SV, Muller M, Witten PE. Bone Formation in Zebrafish: The Significance of DAF-FM DA Staining for Nitric Oxide Detection. Biomolecules. 2023 Dec 12;13(12):1780.
- Phadwal K, Tan X, Koo E, Zhu D, MacRae VE. Metformin ameliorates valve interstitial cell calcification by promoting autophagic flux. Sci Rep. 2023 Dec 5;13(1):21435.
- Feldmann A, Nitschke Y, Linß F, Mulac D, Stücker S, Bertrand J, Buers I, Langer K, Rutsch F. Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles. Int J Mol Sci. 2023 Nov 17;24(22):16471.
- Wynsberghe JV, Vanakker OM. Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases. Biomolecules. 2023 Nov 6;13(11):1621.
- Maheshwari U, Mateos JM, Weber-Stadlbauer U, Ni R, Tamatey V, Sridhar S, Restrepo A, de Jong PA, Huang SF, Schaffenrath J, Stifter SA, Szeri F, Greter M, Koek HL, Keller A. Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis. Brain Pathol. 2023 Nov;33(6):e13189.
- Chen J, Yu H, Tan X, Mok SWF, Xie Y, Wang Y, Jiang X, Macrae VE, Lan L, Fu X, Zhu D. PFKFB3-driven vascular smooth muscle cell glycolysis promotes vascular calcification via the altered FoxO3 and lactate production. FASEB J. 2023 Oct;37(10):e23182.
- Risseeuw S, Pilgrim MG, Bertazzo S, Brown CN, Csincsik L, Fearn S, Thompson RB, Bergen AA, Ten Brink JB, Kortvely E, Spiering W, Ossewaarde-van Norel J, van Leeuwen R, Lengyel I. Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging. Ophthalmol Sci. 2023 Oct 24;4(2):100416.
- Lindenkamp C, Plümers R, Osterhage MR, Vanakker OM, Van Wynsberge J, Knabbe C, Hendig D. The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients. Biomedicines. 2023 Sep 29;11(10):2673.
- Richter E, Lohmann CH, Dell'Accio F, Goettsch C, Bertrand J. Sortilin Is Upregulated in Osteoarthritis-Dependent Cartilage Calcification and Associated with Cellular Senescence. Int J Mol Sci. 2023 Aug 2;24(15):12343.
- Beyens A, Lietaer C, Claes K, De Baere E, Goeteyn M, Lerut B, Syryn H, Vanakker O, Van der Meulen J, Vanwalleghem L, Callewaert B. HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects. Clin Genet. 2023 Jun;103(6):709-713.
- Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD. Acta Neuropathol. 2023 Jun;145(6):793-814.
- Murcia Casas B, Carrillo Linares JL, Baquero Aranda I, Rioja Villodres J, Merino Bohórquez V, González Jiménez A, Rico Corral MÁ, Bosch R, Sánchez Chaparro MÁ, García Fernández M, Valdivielso P. Lansoprazole Increases Inorganic Pyrophosphate in Patients with Pseudoxanthoma Elasticum: A Double-Blind, Randomized, Placebo-Controlled Crossover Trial. Int J Mol Sci. 2023 Mar 3;24(5):4899.
- Van Gils M, Depauw J, Coucke PJ, 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 Feb 27;12(5):1893.
- Santos JMA, Laizé V, Gavaia PJ, Conceição N, Cancela ML. Zebrafish Models to Study Ectopic Calcification and Calcium-Associated Pathologies. Int J Mol Sci. 2023 Feb 8;24(4):3366.
- Kozak E, Bartstra J, Jong P, Mali W, Fülöp K, Tokesi N, Pomozi V, Risseeuw S, Norel J, Leeuwen R, Váradi A, Spiering W. Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype. J Clin Med. 2023 Jan 29; 12(3):1047.
2022
- Nollet LL, Vanakker OM. Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases. Int J Mol Sci. 2022 Dec 4;23(23):15288.
- Chunn LM, Bissonnette J, Heinrich SV, Mercurio SA, Kiel MJ, Rutsch F, Ferreira CR. Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases. Orphanet J Rare Dis. 2022 Dec 2;17(1):421.
- Mercurio SA, Chunn LM, Khursigara G, Nester C, Wray K, Botschen U, Kiel MJ, Rutsch F, Ferreira CR. ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database. Hum Mutat. 2022 Dec;43(12):1673-1705.
- 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 Dec;43(12):1872-1881.
- Suntharesan J, Agarwal U, Lim J, Collingwood C, Avula S, Mughal MZ, Nitschke Y, Botschen U, Rutsch F, Ramakrishnan R. An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation. Calcif Tissue Int. 2022 Dec;111(6):646-652.
- Huang J, Ralph D, Boraldi F, Quaglino D, Uitto J, Li Q. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022 Aug;142(8):2140-2148.e1.
- Nollet L, Van Gils M, Willaert A, Coucke PJ, Vanakker OM. Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022 Jun;142(6):1629-1638.
- 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 Jun 28;11(13):3727.
- Pelttari S, Väärämäki S, Vanakker O, Verschuere S, Uusitalo H, Huhtala H, Hinkka T, Pörsti I, Nevalainen PI. Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study. Orphanet J Rare Dis. 2022 May 7;17(1):185.
- Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022 Apr 28;18(4):e1010192.
- Bernhard E, Nitschke Y, Khursigara G, Sabbagh Y, Wang Y, Rutsch F. A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method. J Clin Endocrinol Metab. 2022 Jan 1;107(1):109-118