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Št. zadetkov: 6
ǂThe ǂmultifaceted complexity of genetic diseases
Daniela Quaglino, Federica Boraldi, Giulia Annovi, Ivonne Pasquali Ronchetti
Samostojni znanstveni sestavek ali poglavje v monografski publikaciji
Oznake: genetic pathology;skin;morphology;PXE;
The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum
Leto: 2011 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Connective tissue and diseases
Daniela Quaglino, Federica Boraldi, Giulia Annovi, Deanna Guerra, Ivonne Pasquali Ronchetti
Pregledni znanstveni članek
Oznake: pathology;proteomics;fibrosis;rheumatology;cancer;
Connective tissue consists of cells separated by the extracellular matrix, whose composition and amount vary according to age, to functional requirements, and to the presence of pathologic conditions. Within this non-random macromolecular assembly, collagens, elastin, proteoglycans and structural ...
Leto: 2009 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Fibroblast involvement in soft connective tissue calcification
Ivonne Pasquali Ronchetti, Federica Boraldi, Giulia Annovi, Paolo Cianciulli, Federica Boraldi, Daniela Quaglino
Pregledni znanstveni članek
Oznake: fibroblasts;PXE;PXE-likedisorders;elastin;extracellularmatrix;ectopiccalcification;mesenchymal stromalcells;
Soft connective tissue calcification is not a passive process, but the consequence of metabolic changes of local mesenchymal cells that, depending on both genetic and environmental factors, alter the balance between pro- and anti-calcifying pathways. While the role of smooth muscle cells and pericyt ...
Leto: 2013 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients
Dealba Gheduzzi, Federica Boraldi, Giulia Annovi, Chiara Paolinelli DeVincenzi, Leon J. Schurgers, Cees Vermeer, Daniela Quaglino, Ivonne Pasquali Ronchetti
Izvirni znanstveni članek
Oznake: calcification;dermal fibroblast;elastic fiber;human skin;MGP;pseudoxanthoma elasticum;
Mature MGP (Matrix g-carboxyglutamic acid protein) is known to inhibit soft connective tissues calcification. We investigated its possible involvement in pseudoxanthoma elasticum (PXE), a genetic disorder whose clinical manifestations are due to mineralization of elastic fibers. PXE patients have ...
Leto: 2007 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Ectopic calcification in [beta]-thalassemia patients is associated with increased oxidative stress and lower MGP carboxylation
Federica Boraldi, Maria Garcia-Fernandez, Chiara Paolinelli DeVincenzi, Giulia Annovi, Leon J. Schurgers, Cees Vermeer, Paolo Cianciulli, Ivonne Pasquali Ronchetti, Daniela Quaglino
Izvirni znanstveni članek
Oznake: elastin;oxidative stress;matrix Gla protein;ectopic calcification;beta-thalassemia;
Ectopic calcification in β-thalassemia patients is associated with increased oxidative stress and lower MGP carboxylation
Leto: 2013 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Fibroblast protein profile analysis highlights the role of oxidative stress and vitamin K recycling in the pathogenesis of pseudoxanthoma elasticum
Federica Boraldi, Giulia Annovi, Deanna Guerra, Chiara Paolinelli DeVincenzi, Maria Inmaculada Garcia-Fernandez, Fulvio Panico, Giorgio De Santis, Roberta Tiozzo, Ivonne Pasquali Ronchetti, Daniela Quaglino
Izvirni znanstveni članek
Oznake: ectopic calcification;elastin;fibroblast proteome;MRP6;PXE;
Pseudoxanthoma elasticum (PXE) is a genetic disorder associated to mutations in the ABCC6 gene; however, the pathogenetic mechanisms leading to elastic fibre calcifications and to clinical manifestations are still unknown. Dermal fibroblasts, directly involved in the production of the extracellular ...
Leto: 2009 Vir: Repozitorij Univerze v Novi Gorici (RUNG)
Št. zadetkov: 6
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