Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes. [PDF]
PLoS ONE, 2014 Pseudoxanthoma elasticum (PXE), a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene. Null mice (Abcc6(-/-) ) recapitulate the genetic, histopathologic and ultrastructural features of PXE, and they demonstrate early and ...
Qiaoli Li +5 more
doaj +7 more sources
Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum [PDF]
Journal of the American College of Cardiology, 2018 In pseudoxanthoma elasticum (PXE), low pyrophosphate levels may cause ectopic mineralization, leading to skin changes, visual impairment, and peripheral arterial disease.The authors hypothesized that etidronate, a pyrophosphate analog, might reduce ectopic mineralization in PXE.In the Treatment of Ectopic Mineralization in Pseudoxanthoma Elasticum ...
Kranenburg, G. +16 more
core +9 more sources
Physiological and pathological/ectopic mineralization: from composition to microstructure
Microstructures, 2023 Biomineralization is a process that leads to the formation of hierarchically arranged structures in mineralized tissues, such as bone and teeth. Extensive research has been conducted on the crystals in bones and teeth, with the aim of understanding the underlying mechanisms of the mineralization process.
Mu, Yuqing +4 more
openaire +5 more sources
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. [PDF]
World J Clin Cases, 2015 Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality. Further, pathologic mineralization is seen in several rare genetic disorders, which often present life-threatening phenotypes ...
De Vilder EY, Vanakker OM.
europepmc +6 more sources
Histomorphometry of ectopic mineralization using undecalcified frozen bone sections [PDF]
Microscopy Research and Technique, 2018 AbstractTo investigate the correlation between mineral formation and enhanced expressions of some proteins using undecalcified frozen bone sections. Histological studies have revealed that some proteins, such as BMP2, BMPR1A, and Connexin 43, are expressed in and around sites of ectopic ossification.
Ryuji Fujihara +9 more
core +4 more sources
Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observations [PDF]
Frontiers in Genetics, 2013 Zebrafish (ZF, Danio rerio) has emerged as an important and popular model species to study different human diseases. Key regulators of skeletal development and calcium metabolism are highly conserved between mammals and zebrafish.
Mohammad Jakir Hosen +6 more
doaj +2 more sources
Inhibition of Ectopic Mineralization with Mineral-Binding Peptide
Ectopic mineralization describes the formation of unwanted and non-physiological mineralization that primarily affects soft tissues and results in pain and dysfunction. Though ectopic mineralization is often one component of a larger disease state (e.g.
McGoldrick, Samantha
openaire +2 more sources
Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020. [PDF]
J Clin Med, 2020 Pseudoxanthoma elasticum (PXE), the prototype of heritable ectopic mineralization disorders, manifests with deposition of calcium hydroxyapatite crystals in the skin, eyes and arterial blood vessels. This autosomal recessive disorder, due to mutations in
Luo H, Li Q, Cao Y, Uitto J.
europepmc +4 more sources
Overexpression of Fetuin-A Counteracts Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum (Abcc6−/−) [PDF]
Journal of Investigative Dermatology, 2010 The pathologic hallmark of pseudoxanthoma elasticum (PXE) is ectopic mineralization of soft connective tissues. Recent studies have suggested that PXE is a metabolic disease, and perturbations in a number of circulatory factors have been postulated.
Jiang, Qiujie +4 more
openaire +6 more sources
The diagnosis and management of ectopic pregnancy [PDF]
, 2006 The increase in the number of women in whom a diagnosis of ectopic pregnancy is made presents challenges to the gynaecologist. It is important to follow diagnostic protocols to ensure that cases are not missed.
Moore, Judith
core +6 more sources