Search Results - "Verschuere, Shana"

Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors by Jönsson, Marie E, Ludvik Brattås, Per, Gustafsson, Charlotte, Petri, Rebecca, Yudovich, David, Pircs, Karolina, Verschuere, Shana, Madsen, Sofia, Hansson, Jenny, Larsson, Jonas, Månsson, Robert, Meissner, Alexander, Jakobsson, Johan

“…DNA methylation contributes to the maintenance of genomic integrity in somatic cells, in part through the silencing of transposable elements. In this study, we…”
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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc by Verschuere, Shana, Navassiolava, Nastassia, Martin, Ludovic, Nevalainen, Pasi I., Coucke, Paul J., Vanakker, Olivier M.

“…Pseudoxanthoma elasticum (PXE) is a heritable disorder affecting elastic fibers in the skin, eyes, and cardiovascular system. It is caused by biallelic…”
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The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders by Nollet, Lukas, Van Gils, Matthias, Verschuere, Shana, Vanakker, Olivier

“…Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired diseases characterized by aberrant deposition of calcium crystals in…”
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Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study by Pelttari, Saku, Väärämäki, Suvi, Vanakker, Olivier, Verschuere, Shana, Uusitalo, Hannu, Huhtala, Heini, Hinkka, Tero, Pörsti, Ilkka, Nevalainen, Pasi I

“…Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate…”
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From membrane to mineralization: the curious case of the ABCC6 transporter by Verschuere, Shana, Van Gils, Matthias, Nollet, Lukas, Vanakker, Olivier M.

“…ATP‐binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP‐dependent transmembrane transporter predominantly expressed in the liver and the…”
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Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model by Steyaert, Wouter, Verschuere, Shana, Coucke, Paul J., Vanakker, Olivier M.

“…Pseudogenes are frequently encountered noncoding sequences with a high sequence similarity to their protein-coding paralogue. For this reason, their presence…”
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Genotype-phenotype correlation in pseudoxanthoma elasticum by Bartstra, Jonas W., Risseeuw, Sara, de Jong, Pim A., van Os, Bram, Kalsbeek, Lianne, Mol, Chris, Baas, Annette F., Verschuere, Shana, Vanakker, Olivier, Florijn, Ralph J., Hendrikse, Jeroen, Mali, Willem, Imhof, Saskia, Ossewaarde-van Norel, Jeannette, van Leeuwen, Redmer, Spiering, Wilko

“…Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has…”
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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 by Szeri, Flora, Miko, Agnes, Navasiolava, Nastassia, Kaposi, Ambrus, Verschuere, Shana, Molnar, Beatrix, Li, Qiaoli, Terry, Sharon F., Boraldi, Federica, Uitto, Jouni, Wetering, Koen, Martin, Ludovic, Quaglino, Daniela, Vanakker, Olivier M., Tory, Kalman, Aranyi, Tamas

“…ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of…”
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Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype by Van Gils, Matthias, Depauw, Justin, Coucke, Paul J, Aerts, Shari, Verschuere, Shana, Nollet, Lukas, Vanakker, Olivier M

“…Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic mutations. While the…”
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