Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. [PDF]
J Invest Dermatol, 2022 Pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder, is caused by inactivating mutations in the ABCC6 gene. The encoded protein, ABCC6, a transmembrane transporter, has a specialized efflux function in hepatocytes by ...
Kowal L +6 more
europepmc +3 more sources
Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ). [PDF]
Oncotarget, 2018 Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are heritable disorders manifesting with ectopic tissue mineralization.
Li Q +4 more
europepmc +2 more sources
Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. [PDF]
J Invest Dermatol, 2019 Pseudoxanthoma elasticum, a prototype of heritable multisystem ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative efflux transporter, ABCC6.
Li Q +10 more
europepmc +2 more sources
Mineral-Binding Peptide Inhibits Ectopic Mineralization Secondary to Bone Morphogenetic Protein Stimulation. [PDF]
J Biomed Mater Res B Appl BiomaterABSTRACTBone morphogenetic proteins (BMPs) are widely recognized for their therapeutic efficacy in bone regeneration, but one side effect of these therapies is ectopic mineralization. Previous work identified a mineral‐binding peptide (pVTK, VTKHNLQI(pS)Q(pS)Y; where pS denotes a phosphoserine) with the ability to inhibit mineralization in osteoblasts.
McGoldrick SJ, Woo B, Kohn DH.
europepmc +3 more sources
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders. [PDF]
J Invest Dermatol, 2016 Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditions with overlapping clinical features include generalized arterial calcification of ...
Li Q +4 more
europepmc +4 more sources
The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum
Frontiers in Pharmacology, 2022 Pseudoxanthoma elasticum (PXE) is a multisystem ectopic mineralization disorder caused by pathogenic variants in the ABCC6 gene. Though complications of the disease can be treated, PXE itself remains currently intractable.
M. Van Gils +7 more
doaj +1 more source
Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders. [PDF]
J Invest Dermatol, 2019 Loss-of-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum and type 2 generalized arterial calcification of infancy, heritable ectopic mineralization disorders without effective treatment. ABCC6 encodes the putative efflux transporter ABCC6, which is predominantly expressed in the liver. Although the substrate of ABCC6 remains unknown,
Huang J, Snook AE, Uitto J, Li Q.
europepmc +4 more sources
Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder. [PDF]
Int J Dermatol Venereol, 2020 Abstract Objective: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiovascular system, kidney stones were reported in some ...
Ralph D +5 more
europepmc +4 more sources
Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum. [PDF]
J Invest Dermatol, 2012 Skin diseases characterized by aberrant accumulation of mineral deposits comprise a heterogeneous group of disorders, often associated with inflammation (Sprecher, 2010). Examples of such conditions are systemic autoimmune disorders, for example, dermatomyositis, lupus erythematosus, and systemic sclerosis. Localized inflammatory lesions, such as those
Li Q, Uitto J.
europepmc +6 more sources
Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice. [PDF]
Cell Cycle, 2015 Ectopic mineralization disorders inflicting the connective tissues display a spectrum of severity, some developing in utero and being diagnosed by prenatal ultrasound. This study was designed to test the hypothesis that the mineral content of maternal diet can influence the mineralization in the offspring.
Li Q, Kingman J, Uitto J.
europepmc +4 more sources