Associated Papers
Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
International Journal of Molecular Sciences, 2026
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
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders.
De Vilder EY et al.
Biomed Research International, 2015
Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
Li Q et al.
The Journal of Investigative Dermatology, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6.
Fülöp K et al.
Biochemical and Biophysical Research Communications, 2009
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG et al.
Journal of Medical Genetics, 2007
Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.
Shi Y et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Chassaing N et al.
Journal of Medical Genetics, 2005
Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.
Conseil G et al.
Pharmacogenetics and Genomics, 2005
[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Bergen AA et al.
Nederlands Tijdschrift Voor Geneeskunde, 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
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
Iliás A et al.
The Journal of Biological Chemistry, 2002
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001