Special Issue "Ectopic Calcification in Hereditary and Acquired Diseases: From Bench to Bedside"
Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 9415
2. Department of Molecular Biology, Semmelweis University, Budapest, Hungary
Interests: pseudoxanthoma elasticum; arterial calcification of infancy; epigenetics; DNA methylation; incomplete penetrance; conditional knock-out
Interests: pseudoxanthoma elasticum; ectopic mineralization; mutations; mouse model; mutation; phenotype; PXE; calcification; abcc6 gene; intellectual disability; matrix Gla protein; mineralization
Interests: vascular biology; mineralization inhibitor; soft tissue calcification; arteriosclerosis; mineralization disorders; animal models; fetuin-A; alkaline phosphatase; pseudoxanthoma elasticum; arterial calcification; pyrophosphate; extracellular ATP; cardiovascular disease
Ectopic calcification (EC) is an inappropriate biomineralization occurring in soft tissues. Affecting a wide variety of tissues, EC is highly accelerated in aging and directly associated with morbidity and mortality in several rare hereditary conditions (e.g., pseudoxanthoma elasticum and GACI) and common diseases such as diabetes and chronic kidney disease (CKD). Though certain aspects of the pathophysiology between monogenic and acquired EC disorders vary, hereditary diseases provide a unique opportunity to identify the genetic background, pro- and anti-mineralization molecules and metabolic and epigenetic factors that contribute to the development, phenotypic consequences and severity of EC, which are translatable to common disorders and natural aging. However, despite its clinical and pathophysiological importance, the causes of EC are still obscure. This Special Issue will integrate the expertise of clinicians, basic scientists and patient organizations with two different points of view: rare monogenic EC and commonly acquired EC. By expanding the current knowledge of the underlying genetics, molecular mechanisms, risk factors and modulators behind similarities and differences in various forms of EC diseases, this Special Issue aims to contribute to improved risk stratification, prevention and diagnosis based on a deepened understanding of the causes and consequences of EC and will offer a unique collection stimulating future research and innovative therapeutic concepts.
Dr. Tamas Aranyi
Prof. Dr. Olivier M. Vanakker
Dr. Flóra Szeri
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