Étude ultrastructurale des calcifications et de la matrice extracellulaire dermique au cours du pseudoxanthome élastique (PXE)
Sign Up to like & getrecommendations! Published in 2019 at "Annales De Dermatologie Et De Venereologie"
DOI: 10.1016/j.annder.2019.09.297
Abstract: Introduction Le PXE est caracterise par la fragmentation et calcification des fibres elastiques. En depit de progres physiopathologiques recents, les mecanismes fins de la mineralisation ectopique restent mal connus. L’objectif de cette etude est de… read more here.
Keywords: extracellulaire dermique; des fibres; pxe; fibres elastiques ... See more keywords
Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Dermatology"
DOI: 10.1111/bjd.18632
Abstract: Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations… read more here.
Keywords: thiosulfate; early onset; pxe; severe early ... See more keywords
VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13751
Abstract: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive ectopic mineralization disorder, characterized by skin, eye and cardiovascular symptoms. The most devastating ocular complication is choroidal neovascularization, which is thought to be mediated by vascular endothelial… read more here.
Keywords: pxe; vegfa variants; pseudoxanthoma elasticum;
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
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DOI: 10.1371/journal.pgen.1010192
Abstract: Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent endogenous inhibitor of calcification. Variants… read more here.
Keywords: calcification; enpp1 variants; genetic heterogeneity; ectopic calcification ... See more keywords
Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticum Dermal Fibroblasts
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2020.610266
Abstract: Pseudoxanthoma elasticum (PXE) is a genetic disease considered as a paradigm of ectopic mineralization disorders, being characterized by multisystem clinical manifestations due to progressive calcification of skin, eyes, and the cardiovascular system, resembling an age-related… read more here.
Keywords: pxe; pseudoxanthoma elasticum; calcification; pxe fibroblasts ... See more keywords
Abcc6 Null Mice—a Model for Mineralization Disorder PXE Shows Vertebral Osteopenia Without Enhanced Intervertebral Disc Calcification With Aging
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.823249
Abstract: Chronic low back pain is a highly prevalent health condition intricately linked to intervertebral disc degeneration. One of the prominent features of disc degeneration that is commonly observed with aging is dystrophic calcification. ATP-binding cassette… read more here.
Keywords: abcc6; bone; intervertebral disc; pxe ... See more keywords
ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions
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DOI: 10.3390/ijms22094555
Abstract: Pathological (ectopic) mineralization of soft tissues occurs during aging, in several common conditions such as diabetes, hypercholesterolemia, and renal failure and in certain genetic disorders. Pseudoxanthoma elasticum (PXE), a multi-organ disease affecting dermal, ocular, and… read more here.
Keywords: ectopic calcification; pyrophosphate ectopic; pxe; abcc6 pyrophosphate ... See more keywords
Cutaneous Elastorrhexis; A Heralding Sign of Gronblad-Strandberg Syndrome: A Case Report
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DOI: 10.5812/jssc.105455
Abstract: Introduction: Pseudoxanthoma Elasticum (PXE), also called Gronblad-Strandberg syndrome, is an autosomal recessive disorder due to mutation in the ABCC6 allele on chromosome 16p. It is characterized by the progressive fragmentation and calcification of elastin fibers… read more here.
Keywords: pxe; strandberg syndrome; case; gronblad strandberg ... See more keywords