Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum
G Kauffenstein, A Pizard, Y Le Corre… - … , and vascular biology, 2014 - Am Heart Assoc
Objective—Pseudoxanthoma elasticum is an inherited metabolic disorder resulting from
ABCC6 gene mutations. It is characterized by progressive calcification and fragmentation of …
ABCC6 gene mutations. It is characterized by progressive calcification and fragmentation of …
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
TGMF Gorgels, X Hu, GL Scheffer… - Human molecular …, 2005 - academic.oup.com
Pseudoxanthoma elasticum (PXE) is a heritable disorder of connective tissue, affecting
mainly skin, eye and the cardiovascular system. PXE is characterized by dystrophic …
mainly skin, eye and the cardiovascular system. PXE is characterized by dystrophic …
The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification
Vascular calcification is a complex and dynamic process occurring in various physiological
conditions such as aging and exercise or in acquired metabolic disorders like diabetes or …
conditions such as aging and exercise or in acquired metabolic disorders like diabetes or …
Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6 −/− )
Pseudoxanthoma elasticum (PXE), a multisystem heritable disorder with aberrant
mineralization of arterial blood vessels, is caused by mutations in the ABCC6 gene …
mineralization of arterial blood vessels, is caused by mutations in the ABCC6 gene …
[HTML][HTML] Genotype-phenotype correlation in pseudoxanthoma elasticum
JW Bartstra, S Risseeuw, PA de Jong, B van Os… - Atherosclerosis, 2021 - Elsevier
Background and aims Pseudoxanthoma elasticum (PXE) is caused by variants in the
ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has …
ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has …
Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum
TGMF Gorgels, JH Waarsing, A de Wolf… - Journal of molecular …, 2010 - Springer
Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by ectopic
calcification of connective tissue in skin, Bruch's membrane of the eye, and walls of blood …
calcification of connective tissue in skin, Bruch's membrane of the eye, and walls of blood …
Vitamin D and calcium supplementation accelerate vascular calcification in a model of Pseudoxanthoma Elasticum
E Bouderlique, E Tang, J Zaworski, A Coudert… - International Journal of …, 2022 - mdpi.com
Arterial calcification is a common feature of pseudoxanthoma elasticum (PXE), a disease
characterized by ABCC6 mutations, inducing a deficiency in pyrophosphate, a key inhibitor …
characterized by ABCC6 mutations, inducing a deficiency in pyrophosphate, a key inhibitor …
[HTML][HTML] ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene
M Ratajewski, H De Boussac, I Sachrajda… - Journal of investigative …, 2012 - Elsevier
Pseudoxanthoma elasticum (PXE), a rare recessive genetic disease causing skin, eye, and
cardiovascular lesions, is characterized by the calcification of elastic fibers. The disorder is …
cardiovascular lesions, is characterized by the calcification of elastic fibers. The disorder is …
[HTML][HTML] Analysis of pseudoxanthoma elasticum–causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins
V Pomozi, C Brampton, K Fülöp, LH Chen… - Journal of Investigative …, 2014 - Elsevier
Mutations in the ABCC6 gene cause soft-tissue calcification in pseudoxanthoma elasticum
(PXE) and, in some patients, generalized arterial calcification of infancy (GACI). PXE is …
(PXE) and, in some patients, generalized arterial calcification of infancy (GACI). PXE is …
[HTML][HTML] Changes in dermal fibroblasts from Abcc6−/− mice are present before and after the onset of ectopic tissue mineralization
Pseudoxanthoma elasticum (PXE), a rare genetic disease caused by mutations in the
ABCC6 gene, is characterized by progressive calcification of elastic fibers in the skin, eyes …
ABCC6 gene, is characterized by progressive calcification of elastic fibers in the skin, eyes …
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