Associated Papers
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
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
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
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
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
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
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S et al.
Human Mutation, 2005
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D et al.
Human Mutation, 2004
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Pulkkinen L et al.
Human Genetics, 2001