|
Nevus elasticus
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results suggest that adenovirus-mediated ABCC6 gene delivery, when initiated early, is a promising prevention therapy for pseudoxanthoma elasticum and generalized arterial calcification of infancy, diseases that currently lack preventive or therapeutic options.
|
30639429 |
2019 |
|
Nevus elasticus
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pseudoxanthoma elasticum is a heritable disease caused by ABCC6 deficiency.
|
30468740 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCC6 gene cause pseudoxanthoma elasticum, a metabolic disease with progressive soft tissue calcification.
|
30611276 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify genetic modifiers, we performed quantitative trait locus analysis in inbred mouse strains that carry the same hypomorphic allele in Abcc6 yet with highly variable ectopic mineralization phenotypes of pseudoxanthoma elasticum.
|
31207231 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dark adaptation thresholds were significantly higher, and adaptation periods were prolonged in patients with pseudoxanthoma elasticum (n = 35; 33 with 2 ABCC6 mutations) compared with controls (n = 35).
|
31834130 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype.
|
30805891 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum.
|
30328268 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ABCC6 is a member of the C subfamily of ATP-binding cassette transporters whose mutations are correlated to Pseudoxanthoma elasticum, an autosomal recessive, progressive disorder characterized by ectopic mineralization and fragmentation of elastic fibers.
|
30423326 |
2019 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using CRISPR/Cas9 methodology, van Gils et al. generated knockout zebrafish for abcc6a, the orthologue of human ABCC6 that is mutated in pseudoxanthoma elasticum.
|
30348334 |
2018 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
|
29709427 |
2018 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.
|
30154241 |
2018 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pseudoxanthoma elasticum is an ectopic mineralization disease due to biallelic ABCC6 mutations.
|
30030150 |
2018 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pseudoxanthoma elasticum (PXE; OMIM 264800, prevalence 1/25,000 to 1/50,000) is an autosomal recessive multisystem disease due to deficiency in ABCC6, an ATP-binding cassette, sub-family C transporter.
|
28658601 |
2017 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCC6 (ATP binding cassette transporter C6) ABC transporter are associated with pseudoxanthoma elasticum, a disease of altered elastic properties in multiple tissues.
|
27994049 |
2017 |
|
Nevus elasticus
|
0.100 |
Biomarker
|
disease |
BEFREE |
ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
|
28696355 |
2017 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
|
28102862 |
2017 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ABCC6 mutations thus lead to reduced plasma pyrophosphate levels, resulting in the calcification disorder pseudoxanthoma elasticum and some cases of generalized arterial calcification of infancy.
|
27826008 |
2017 |
|
Nevus elasticus
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These observations suggest a critical role of hepatic ABCC6 in contributing to plasma PPi levels, identifying liver as a target of molecular correction to counteract ectopic mineralization in pseudoxanthoma elasticum.
|
28111129 |
2017 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heritable mutations in ABCC6 underlie the incurable calcification disorder pseudoxanthoma elasticum and some cases of generalized arterial calcification of infancy.
|
28416300 |
2017 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.
|
28186352 |
2017 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors describe an uncommon association between pseudoxanthoma elasticum with typical fundus lesions and positive testing for mutation in the ABCC6 gene and the concomitant presence of a large subfoveal vitelliform lesion.
|
25707061 |
2015 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
|
25615550 |
2015 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ABCC6, the gene responsible for pseudoxanthoma elasticum, an autosomal recessive ectopic mineralization disorder, can be considered a paradigm gene with relevance that reaches far beyond this enigmatic orphan disease.
|
26356190 |
2015 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.
|
24352041 |
2014 |
|
Nevus elasticus
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
|
24008425 |
2014 |