Associated Papers
Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.
Haverkamp M et al.
The Journal of Investigative Dermatology, 2025
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
Biorxiv : the Preprint Server for Biology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.
Kozák E et al.
Journal of Clinical Medicine, 2023
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 F et al.
Human Mutation, 2022
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Verschuere S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
Jin L et al.
The Journal of Investigative Dermatology, 2015
Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
Boraldi F et al.
Molecular Genetics and Metabolism Reports, 2014
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y et al.
American Journal of Human Genetics, 2012
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Vanakker OM et al.
Human Mutation, 2008
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Schulz V et al.
Human Mutation, 2006
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Chassaing N et al.
Journal of Medical Genetics, 2005
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S et al.
Human Mutation, 2005
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
Schulz V et al.
Human Biology, 2005
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Bergen AA et al.
Nederlands Tijdschrift Voor Geneeskunde, 2004
Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
Götting C et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2004
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
Hu X et al.
Genetic Testing, 2004
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003