The ABCC6 Transporter: A New Player in Biomineralization.

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Annotation Summary

Term Occurence Count Dictionary
calcinosis 3 endocrinologydiseases
hyperparathyroidism 1 endocrinologydiseases
hypophosphatasia 1 endocrinologydiseases
osteoporosis 3 endocrinologydiseases
progeria 1 endocrinologydiseases
secondary hyperparathyroidism 1 endocrinologydiseases
vascular calcification 1 endocrinologydiseases

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calcinosis 6719 designate this pathology in the literature for historical reasons. However, one would suggest elasto- calcinosis as more appropriate [[9]].3. Vascular Lesions of PXEBeside the skin and retinal lesions, the arterial
calcinosis 31643 member 6 (ABCC6)264800Skin, arteriesNoneCraniometaphyseal dysplasia, autosomal dominant (CMDD) or Chondro calcinosis 2 (CCAL2)Inorganic pyrophosphate transport regulator (ANKH)118600 or 123000Cartilage (joints)NoneGeneralized
calcinosis 32222 Disease/Hyperostosis corticalis deformans juvenilisOsteoprotegerin (OPG)239000BoneBisphoshonateTumoral calcinosis , hyperphosphatemicKlotho or fibroblast growth factor 23 (FGF23) or polypeptide N-acetylgalactosaminyl-transferase
hyperparathyroidism 24992 activity is usually high in CKD following increased bone remodeling, which mainly results from secondary hyperparathyroidism . Remarkably, high TNAP activity is related to cardiovascular (CV) mortality in CKD after adjustment
hypophosphatasia 27688 PPi. However, the risk of bone demineralization, which is exemplified by the patients suffering from hypophosphatasia , may be a limitation [[98]]. PPi administration has been considered for the treatment of AC. Daily intraperitoneal
osteoporosis 8886 bone mineralization defect [[16]] in contrast with non-genetic vascular calcifying diseases, namely osteoporosis and/or chronic kidney disease (CKD) [[17]].Although arterial calcifications represent the most visible
osteoporosis 22895 Diseases?Calcifications of the arterial media (also termed mediacalcosis) are common features of CKD and osteoporosis . In contrast to PXE [[16]], mediacalcosis is linked to disturbed bone mineralization or bone turnover
osteoporosis 23221 patients suffering from CKD have an increased rate of fracture [[82],[83]] and patients affected by osteoporosis display more arterial calcifications [[84]] or develop them over time in parallel to loss of their mineral
progeria 32396 or polypeptide N-acetylgalactosaminyl-transferase 3 (GALNT3)211900ArteriesNoneHutchinson–Gilford progeria syndrome (HGPS)Laminin A (LMNA)176670Arteries, aortic valvesNoneFibrodysplasia ossificans progressiva
secondary hyperparathyroidism 24982 TNAP activity is usually high in CKD following increased bone remodeling, which mainly results from secondary hyperparathyroidism . Remarkably, high TNAP activity is related to cardiovascular (CV) mortality in CKD after adjustment
vascular calcification 28531 dystrophic cardiac calcifications [[48],[49]]. Some bisphosphonate, non-hydrolysable analogs of PPi, prevent vascular calcification s induced by excess Vitamin D in rats [[116]] and reduce ectopic calcification in Abcc6−/− mice [[117]].

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