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
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
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
New insights into the pathogenicity of non-synonymous variants through multi-level analysis.
Sun H et al.
Scientific Reports, 2019
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 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
Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.
Pomozi V et al.
The Journal of Investigative Dermatology, 2014
Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations.
Arányi T et al.
Frontiers in Genetics, 2013
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver.
Le Saux O et al.
Plos One, 2011
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
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
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