Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment
نویسندگان
چکیده
منابع مشابه
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders
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 infancy and arterial calcification due to CD73...
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Background and objective:FAM20A gene mutations result in enamel renal syndrome (ERS) associated with amelogenesis imperfecta (AI), nephrocalcinosis, gingival fibromatosis, and impaired tooth eruption. FAM20A would control the phosphorylation of enamel peptides and thus enamel mineralization. Here, we characterized the structure and chemical composition of unerupted tooth enamel from ERS patient...
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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 ZF. The corresponding orthologs share significant sequence similarities and an overlap in expression patterns when compared to mammals, making ZF a potential model for the study...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology Symposium Proceedings
سال: 2018
ISSN: 1087-0024
DOI: 10.1016/j.jisp.2018.10.007