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
ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.
Amico G et al.
Genes, 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
ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.
Zedde M et al.
Genes, 2025
ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.
Rosales-Padron J et al.
Ophthalmic Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
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
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical Genetics, 2021
Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum.
Murro V et al.
American Journal of Ophthalmology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
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
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
From membrane to mineralization: the curious case of the ABCC6 transporter.
Verschuere S et al.
Febs Letters, 2020
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human 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
ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
Moitra K et al.
International Journal of Molecular Sciences, 2017
Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
Iwanaga A et al.
The Journal of Dermatology, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Hosen MJ 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
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
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
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
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
Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.
Larusso J et al.
Clinical and Translational Science, 2010
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
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
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
Schulz V et al.
Human Biology, 2005
Pseudoxanthoma elasticum and nephrolithiasis.
Fabre B et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2005
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D et al.
Human Mutation, 2004
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N et al.
The Journal of Investigative Dermatology, 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
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