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Onderzoeker
Shana Verschuere
Profiel
Projecten
Publicaties & datasets
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Prijzen & Erkenningen
Octrooien
18
Resultaten
2026
The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective
Shana Verschuere
Sofie Symoens
Delfien Syx
Paul Coucke
Olivier Vanakker
A1
Artikel in een tijdschrift
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2026
2025
Atypical glutamic acid to lysine substitution in the triple helix of type III collagen manifests as overlap between classical and vascular Ehlers-Danlos syndrome
Margot Callens
Delfien Syx
Shana Verschuere
Sofie Symoens
Fransiska Malfait
C3
Conferentie
2025
Revisiting the molecular basis for ectopic mineralization, using pseudoxanthoma elasticum as a model
Shana Verschuere
Olivier Vanakker
Paul Coucke
Proefschrift
2025
2022
Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients
Matthias Van Gils
Justin Depauw
Shana Verschuere
Lukas Nollet
Olivier Vanakker
C3
Conferentie
2022
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
Flora Szeri
Agnes Miko
Nastassia Navasiolava
Ambrus Kaposi
Shana Verschuere
Beatrix Molnar
Qiaoli Li
Sharon F. Terry
Federica Boraldi
Jouni Uitto
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2022
Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study
Saku Pelttari
Suvi Vaaramaki
Olivier Vanakker
Shana Verschuere
Hannu Uusitalo
Heini Huhtala
Tero Hinkka
Ilkka Porsti
I Nevalainen, Pasi
A1
Artikel in een tijdschrift
in
ORPHANET JOURNAL OF RARE DISEASES
2022
2021
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
Wouter Steyaert
Shana Verschuere
Paul Coucke
Olivier Vanakker
A1
Artikel in een tijdschrift
in
JOURNAL OF GENETICS AND GENOMICS
2021
Genotype-phenotype correlation in pseudoxanthoma elasticum
Jonas W. Bartstra
Sara Risseeuw
Pim A. de Jong
Bram van Os
Lianne Kalsbeek
Chris Mol
Annette F. Baas
Shana Verschuere
Olivier Vanakker
Ralph J. Florijn
et al.
A1
Artikel in een tijdschrift
in
ATHEROSCLEROSIS
2021
Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype
Matthias Van Gils
Justin Depauw
Paul Coucke
Shana Verschuere
Lukas Nollet
Olivier Vanakker
C3
Conferentie
2021
Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the cardio(vascular) phenotype
Matthias Van Gils
Justin Depauw
Shana Verschuere
Lukas Nollet
Olivier Vanakker
C3
Conferentie
2021
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
Shana Verschuere
Nastassia Navassiolava
Ludovic Martin
Pasi I. Nevalainen
Paul Coucke
Olivier Vanakker
A1
Artikel in een tijdschrift
in
GENETICS IN MEDICINE
2021
2020
From membrane to mineralization : the curious case of the ABCC6 transporter
Shana Verschuere
Matthias Van Gils
Lukas Nollet
Olivier Vanakker
A1
Artikel in een tijdschrift
in
FEBS LETTERS
2020
Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the (cardio)vascular phenotype.
Matthias Van Gils
Justin Depauw
Shana Verschuere
Lukas Nollet
Olivier Vanakker
C3
Conferentie
2020
Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB : transient improvement in ectopic calcification with sodium thiosulfate
L. Omarjee
Y. Nitschke
Shana Verschuere
E. Bourrat
M. D. Vignon
N Navasiolava
G. Leftheriotis
G. Kauffenstein
F. Rutsch
Olivier Vanakker
et al.
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF DERMATOLOGY
2020
The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum
Flora Szeri
Agnes Miko
Nastassia Navasiolava
Ambrus Kaposi
Shana Verschuere
Qiaoli Li
Sharon F. Terry
Federica Boraldi
Jouni Uitto
Koen van de Wetering
et al.
Preprint
2020
2019
Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum
Shana Verschuere
Paul Coucke
Olivier Vanakker
C3
Conferentie
2019
Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum
Shana Verschuere
Paul Coucke
Olivier Vanakker
C3
Conferentie
2019
The role of vitamin K and its related compounds in Mendelian and acquired ectopic mineralization disorders
Lukas Nollet
Matthias Van Gils
Shana Verschuere
Olivier Vanakker
A1
Artikel in een tijdschrift
in
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2019