Journal
CURRENT OPINION IN PHARMACOLOGY
Volume 28, Issue -, Pages 14-23Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.coph.2016.02.002
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Funding
- Institute Strategic Programme Grant from the Biotechnology and Biological Sciences Research Council (BBSRC) [BB/J004316/1]
- French Society of Vascular Medicine
- PXE-France french patients' association
- PXE-International
- Universite de Lorraine
- Centre National de la Recherche Scientifique (CNRS)
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Deutsche Forschungsgemeinschaft (DFG)
- Hungarian Scientific Research Fund (OTKA)
- BBSRC [BBS/E/D/20221657] Funding Source: UKRI
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Connective tissue calcifying diseases (CTCs) are characterized by abnormal calcium deposition in connective tissues. CTCs are caused by multiple factors including chronic diseases (Type II diabetes mellitus, chronic kidney disease), the use of pharmaceuticals (e.g. warfarin, glucocorticoids) and inherited rare genetic diseases such as pseudoxanthoma elasticum (PXE), generalized arterial calcification in infancy (GACI) and Keutel syndrome (KTLS). This review explores our current knowledge of these rare inherited CTCs, and highlights the most promising avenues for pharmaceutical intervention. Advancing our understanding of rare inherited forms of CTC is not only essential for the development of therapeutic strategies for patients suffering from these diseases, but also fundamental to delineating the mechanisms underpinning acquired chronic forms of CTC.
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