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
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Functional Rescue of ABCC6 Deficiency by 4-Phenylbutyrate Therapy Reduces Dystrophic Calcification in Abcc6-/- Mice.
Pomozi V et al.
The Journal of Investigative Dermatology, 2017
Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.
Marconi B et al.
Intractable & Rare Diseases Research, 2015
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
Jin L et al.
The Journal of Investigative Dermatology, 2015
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
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Audo I et al.
Investigative Ophthalmology & Visual Science, 2007
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Chassaing N et al.
Journal of Medical Genetics, 2005
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
Schulz V et al.
Human Biology, 2005
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
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6).
Cai J et al.
Biochemistry, 2002
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
Molecular genetics of pseudoxanthoma elasticum.
Ringpfeil F et al.
Experimental Dermatology, 2001
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O et al.
Nature Genetics, 2000