FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? [PDF]
Frontiers in Physiology, 2017 Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption.
Guilhem Lignon +10 more
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Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020 [PDF]
Journal of Clinical Medicine, 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 ABCC6, is usually diagnosed around the second decade of life.
Luo, Hongbin +3 more
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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
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HMGB1 Induces Secretion of Matrix Vesicles by Macrophages to Enhance Ectopic Mineralization. [PDF]
PLoS ONE, 2016 Numerous clinical conditions have been linked to ectopic mineralization (EM). This process of pathological biomineralization is complex and not fully elucidated, but thought to be started within matrix vesicles (MVs).
Qiang Chen +8 more
doaj +4 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
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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
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Ectopic Calcification: What Do We Know and What Is the Way Forward? [PDF]
, 2023 Ectopic calcification, or ectopic mineralization, is a pathologic condition in which calcifications develop in soft tissues [...
Mike J. L. Peters +2 more
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Editorial: Ectopic Mineralization of Tissues: Mechanisms, Risk Factors, Diseases, and Prevention [PDF]
Frontiers in Cell and Developmental Biology, 2021 Hervé Kempf +5 more
doaj +4 more sources
Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum [PDF]
Journal of Investigative Dermatology, 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, Qiaoli, Uitto, Jouni
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Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment [PDF]
Journal of Investigative Dermatology Symposium Proceedings, 2018 Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is an autosomal recessive disease characterized by deposition of calcium hydroxyapatite in the skin, eyes, and cardiovascular system, with protean manifestations (Li et al., 2016; Li and Uitto, 2013; Neldner, 1988).
Qiaoli, Li, Jouni, Uitto
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