Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors
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
Published in Nature communications (18.07.2019)
Published in Nature communications (18.07.2019)
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Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
Verschuere, Shana, Navassiolava, Nastassia, Martin, Ludovic, Nevalainen, Pasi I., Coucke, Paul J., Vanakker, Olivier M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study
Pelttari, Saku, Väärämäki, Suvi, Vanakker, Olivier, Verschuere, Shana, Uusitalo, Hannu, Huhtala, Heini, Hinkka, Tero, Pörsti, Ilkka, Nevalainen, Pasi I
Published in Orphanet journal of rare diseases (07.05.2022)
Published in Orphanet journal of rare diseases (07.05.2022)
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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
Van Gils, Matthias, Depauw, Justin, Coucke, Paul J, Aerts, Shari, Verschuere, Shana, Nollet, Lukas, Vanakker, Olivier M
Published in Journal of clinical medicine (27.02.2023)
Published in Journal of clinical medicine (27.02.2023)
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From membrane to mineralization: the curious case of the ABCC6 transporter
Verschuere, Shana, Van Gils, Matthias, Nollet, Lukas, Vanakker, Olivier M.
Published in FEBS letters (01.12.2020)
Published in FEBS letters (01.12.2020)
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Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
Steyaert, Wouter, Verschuere, Shana, Coucke, Paul J., Vanakker, Olivier M.
Published in Journal of genetics and genomics (20.04.2021)
Published in Journal of genetics and genomics (20.04.2021)
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Genotype-phenotype correlation in pseudoxanthoma elasticum
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
Published in Atherosclerosis (01.05.2021)
Published in Atherosclerosis (01.05.2021)
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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
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
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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