Associated Papers
ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.
Kitahara S et al.
Scientific Reports, 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
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Uemura M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
A Novel Idiopathic Atrial Calcification: Pathologic Manifestations and Potential Mechanism.
Li B et al.
Frontiers in Cardiovascular Medicine, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 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
From membrane to mineralization: the curious case of the ABCC6 transporter.
Verschuere S et al.
Febs Letters, 2020
Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum.
Kiss N et al.
Lasers in Medical Science, 2020
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
Classic pseudoxanthoma elasticum in a girl with sickle cell disease.
Mitre V et al.
Pediatric Dermatology, 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
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
ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.
Katagiri S et al.
Journal of Ophthalmology, 2017
Pseudoxanthoma elasticum with peculiar acne scar of the neck: Dermoscopic features of tissue bridges as intact skin between crater-like acne scars.
Oiso N et al.
The Journal of Dermatology, 2016
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
Giovannoni I et al.
European Journal of Pediatrics, 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
Co-existence of mutations in the FBN1 gene and the ABCC6 gene in a patient with Marfan syndrome associated with pseudoxanthoma elasticum.
Hayashi S et al.
Journal of Dermatological Science, 2013
Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
Campens L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
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
Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.
Larusso J et al.
Clinical and Translational Science, 2010
Intravitreal avastin for choroidal neovascularization associated with stargardt-like retinal abnormalities in pseudoxanthoma elasticum.
Querques G et al.
Middle East African Journal of Ophthalmology, 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: genetic variations in antioxidant genes are risk factors for early disease onset.
Zarbock R et al.
Clinical Chemistry, 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
Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
Schulz V et al.
Human Biology, 2005
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D et al.
Human Mutation, 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
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Cai L et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Pulkkinen L et al.
Human Genetics, 2001