Research Explorer

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Researcher

Shana Verschuere

16 Results

2022

Plasma inorganic pyrophosphate levels correlate to specific phenotypes and variant archetypes of ABCC6 in pseudoxanthoma elasticum patients

Matthias Van GilsJustin DepauwShana VerschuereLukas NolletOlivier Vanakker

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 SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereBeatrix MolnarQiaoli LiSharon F. TerryFederica BoraldiJouni Uitto et al.

A1 Journal Article in HUMAN MUTATION

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

Saku PelttariSuvi VaaramakiOlivier VanakkerShana VerschuereHannu UusitaloHeini HuhtalaTero HinkkaIlkka PorstiI Nevalainen, Pasi

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2021

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

Wouter SteyaertShana VerschuerePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF GENETICS AND GENOMICS

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

Wouter SteyaertShana VerschuerePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF GENETICS AND GENOMICS

Genotype-phenotype correlation in pseudoxanthoma elasticum

Jonas W. BartstraSara RisseeuwPim A. de JongBram van OsLianne KalsbeekChris MolAnnette F. BaasShana VerschuereOlivier VanakkerRalph J. Florijn et al.

A1 Journal Article in ATHEROSCLEROSIS

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype

Matthias Van GilsJustin DepauwPaul CouckeShana VerschuereLukas NolletOlivier Vanakker

Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the cardio(vascular) phenotype

Matthias Van GilsJustin DepauwShana VerschuereLukas NolletOlivier Vanakker

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

Shana VerschuereNastassia NavassiolavaLudovic MartinPasi I. NevalainenPaul CouckeOlivier Vanakker

A1 Journal Article in GENETICS IN MEDICINE

2020

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

Shana VerschuereMatthias Van GilsLukas NolletOlivier Vanakker

A1 Journal Article in FEBS LETTERS

Pseudoxanthoma elasticum (PXE) patients and heterozygous carriers have decreased plasma PPi levels which correlate with the (cardio)vascular phenotype.

Matthias Van GilsJustin DepauwShana VerschuereLukas NolletOlivier Vanakker

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. OmarjeeY. NitschkeShana VerschuereE. BourratM. D. VignonN NavasiolavaG. LeftheriotisG. KauffensteinF. RutschOlivier Vanakker et al.

A1 Journal Article in BRITISH JOURNAL OF DERMATOLOGY

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

Flora SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereQiaoli LiSharon F. TerryFederica BoraldiJouni UittoKoen van de Wetering et al.

2019

Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

Shana VerschuerePaul CouckeOlivier Vanakker

Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

Shana VerschuerePaul CouckeOlivier Vanakker

The role of vitamin K and its related compounds in Mendelian and acquired ectopic mineralization disorders

Lukas NolletMatthias Van GilsShana VerschuereOlivier Vanakker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES