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

Authors: 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

Source: Human mutation. 43(12):1872-1881

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168380176.0x000001&indx=1&recIds=ETOCvdc_100168380176.0x000001

Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum

Authors: Nollet, Lukas, Van Gils, Matthias, Willaert, Andy, Coucke, Paul J., Vanakker, Olivier M.

Source: In Journal of Investigative Dermatology June 2022 142(6):1629-1638

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Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases.

Authors: Wynsberghe, Judith Van^1,2,3 (AUTHOR) judith.vanwynsberghe@ugent.be, Vanakker, Olivier M.^1,2,3 (AUTHOR) olivier.vanakker@ugent.be

Source: Biomolecules (2218-273X). Nov2023, Vol. 13 Issue 11, p1621. 20p.

Subject Terms: *BRACHYDANIO, *GENETIC disorders, *SPINE, *MINERALIZATION, *SPINE abnormalities, *AQUATIC animals, *SKELETON

Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model

Authors: Steyaert, Wouter, Verschuere, Shana, Coucke, Paul J., Vanakker, Olivier M.

Source: In Journal of Genetics and Genomics 20 April 2021 48(4):289-299

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Authors: Verschuere, Shana, Navassiolava, Nastassia, Martin, Ludovic, Nevalainen, Pasi I., Coucke, Paul J., Vanakker, Olivier M.

Source: In Genetics in Medicine January 2021 23(1):131-139

Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Authors: Kumps, Candy, D'haenens, Erika, Vergult, Sarah, Leus, Jasmine, Coster, Rudy, Jansen, Anna, Devriendt, Koen, Oostra, Anna, Vanakker, Olivier M.

Source: Clinical genetics. 99(3):449-456

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120011452.0x000001&indx=1&recIds=ETOCvdc_100120011452.0x000001

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Authors: De Vilder, Eva Y.G., Hosen, Mohammad J., Martin, Ludovic, De Zaeytijd, Julie, Leroy, Bart P., Ebran, Jean‐Marc, Coucke, Paul J., De Paepe, Anne, Vanakker, Olivier M.

Source: Clinical genetics. 98(1):74-79

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111763563.0x000001&indx=1&recIds=ETOCvdc_100111763563.0x000001

From membrane to mineralization: the curious case of the ABCC6 transporter

Authors: Verschuere, Shana, Van Gils, Matthias, Nollet, Lukas, Vanakker, Olivier M.

Source: FEBS letters. 594(23):4109-4133

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117533414.0x000001&indx=1&recIds=ETOCvdc_100117533414.0x000001

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.

Authors: Dangreau, Lisa, Hosen, Mohammad J., De Zaeytijd, Julie, Leroy, Bart P., Coucke, Paul J., Vanakker, Olivier M.

Source: Current Issues in Molecular Biology; Sep2024, Vol. 46 Issue 9, p9998-10007, 10p

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

Authors: De Vilder, Eva Y.G., Cardoen, Stefanie, Hosen, Mohammad J., Le Saux, Olivier, De Zaeytijd, Julie, Leroy, Bart P., De Reuck, Jacques, Coucke, Paul J., De Paepe, Anne, Hemelsoet, Dimitri, Vanakker, Olivier M.

Source: Brain pathology. 28(6):822-831

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082360582.0x000001&indx=1&recIds=ETOCvdc_100082360582.0x000001

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Authors: Shimojima, Keiko, Narai, Satoshi, Togawa, Masami, Doumoto, Tomotsune, Sangu, Noriko, Vanakker, Olivier M., de Paepe, Anne, Edwards, Matthew, Whitehall, John, Brescianini, Sally, Petit, Florence, Andrieux, Joris, Yamamoto, Toshiyuki

Source: In European Journal of Medical Genetics October 2016 59(10):502-506

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

Authors: Hosen, Mohammad J., Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J., Vanakker, Olivier M. ^*

Source: In Journal of Investigative Dermatology April 2015 135(4):992-998

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Authors: Acke, Frederic R., Malfait, Fransiska, Vanakker, Olivier M., Steyaert, Wouter, De Leeneer, Kim, Mortier, Geert, Dhooge, Ingeborg, De Paepe, Anne, De Leenheer, Els M.R., Coucke, Paul J.

Source: In Molecular Genetics and Metabolism November 2014 113(3):230-235

Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations

Authors: Kariminejad, Ariana ^*, Bozorgmehr, Bita, Najafi, Abdolhamid, Khoshaeen, Atefeh, Ghalandari, Maryam, Najmabadi, Hossein, Kariminejad, Mohamad H. ^*, Vanakker, Olivier M., Hosen, Mohammad J., Malfait, Fransiska, Quaglino, Daniela, Florijn, Ralph J., Bergen, Arthur A.B., Hennekam, Raoul C.

Source: In Journal of Investigative Dermatology September 2014 134(9):2331-2338

Phenotype of a Belgian Family With 6p25 Deletion Syndrome

Authors: Weegerink, Nicole J. D., Swinnen, Freya K. R., Vanakker, Olivier M., Casselman, Jan W., Dhooge, Ingeborg J. M.

Source: Annals of otology, rhinology & laryngology. 125(9):734-745

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN607510293&indx=1&recIds=ETOCRN607510293

The Activation of JAK/STAT3 Signaling and the Complement System Modulate Inflammation in the Primary Human Dermal Fibroblasts of PXE Patients.

Authors: Lindenkamp, Christopher, Plümers, Ricarda, Osterhage, Michel R., Vanakker, Olivier M., Van Wynsberghe, Judith, Knabbe, Cornelius, Hendig, Doris

Source: Biomedicines; Oct2023, Vol. 11 Issue 10, p2673, 17p

Subject Terms: JAK-STAT pathway, COMPLEMENT activation, PROGERIA, ECULIZUMAB, GENE expression, FIBROBLASTS, ATP-binding cassette transporters

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3Avariant in two adults with Tatton-Brown–Rahman syndrome

Authors: Kumps, Candy, D’haenens, Erika, Kerkhof, Jennifer, McConkey, Haley, Alders, Marielle, Sadikovic, Bekim, Vanakker, Olivier M.

Source: European Journal of Human Genetics: EJHG; December 2023, Vol. 31 Issue: 12 p1350-1354, 5p

Functional Polymorphism in Gamma-Glutamylcarboxylase is a Risk Factor for Severe Neonatal Hemorrhage

Authors: Vanakker, Olivier M., De Coen, Kris, Costrop, Laura, Coucke, Paul J., Vanhaesebrouck, Piet, De Paepe, Anne

Source: In The Journal of Pediatrics August 2011 159(2):347-349

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

Authors: Vanakker, Olivier M, Martin, Ludovic, Schurgers, Leon J, Quaglino, Daniela, Costrop, Laura, Vermeer, Cees, Pasquali-Ronchetti, Ivonne, Coucke, Paul J, De Paepe, Anne

Source: In Laboratory Investigation June 2010 90(6):895-905