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
REACT-PXE: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE).
Martin L et al.
Annales De Dermatologie Et De Venereologie, 2026
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Van Vooren E et al.
Investigative Ophthalmology & Visual Science, 2025
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 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
Expanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway.
Setia P et al.
British Journal of Haematology, 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 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS et al.
Cold Spring Harbor Molecular Case Studies, 2019
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
Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6 transporter.
Ran Y et al.
The Journal of Biological Chemistry, 2018
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
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