Associated Papers
ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.
Amico G et al.
Genes, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 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
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Bertamino M et al.
Orphanet Journal of Rare Diseases, 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
A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.
Karabinos A et al.
The Journal of Dermatology, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
Dangreau L et al.
Current Issues in Molecular Biology, 2024
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
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
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
Luo H et al.
The Journal of Investigative Dermatology, 2021
Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum.
Murro V et al.
American Journal of Ophthalmology, 2021
Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients.
Boraldi F et al.
Journal of Clinical Medicine, 2021
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticum Dermal Fibroblasts.
Lofaro FD et al.
Frontiers in Cell and Developmental Biology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Legrand A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Campens L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y et al.
American Journal of Human Genetics, 2012
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
Costrop LM et al.
Journal of Human Genetics, 2010
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
Li Q et al.
Experimental Dermatology, 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
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity.
Ringpfeil F et al.
The Journal of Investigative Dermatology, 2006
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
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N et al.
The Journal of Investigative Dermatology, 2004
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
Meloni I et al.
Human Mutation, 2001
Parameters of oxidative stress are present in the circulation of PXE patients.
Garcia-Fernandez MI et al.
Biochimica Et Biophysica Acta, 0
Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy.
Tsui JC et al.
Case Reports in Ophthalmology, 0