Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Nicoletta Zoppi"'
Autor:
Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi
Publikováno v:
Cells, Vol 11, Iss 24, p 4040 (2022)
Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are clinically overlapping connective tissue disorders of unknown etiology and without any validated diagnostic biomarker and specific therapies. Herein, we in-dep
Externí odkaz:
https://doaj.org/article/776e0726d2694c8a88b7e19cda2e0056
Autor:
Nicola Chiarelli, Nicoletta Zoppi, Marina Venturini, Daniele Capitanio, Cecilia Gelfi, Marco Ritelli, Marina Colombi
Publikováno v:
Cells, Vol 10, Iss 11, p 3236 (2021)
Hypermobile Ehlers-Danlos syndrome (hEDS) is the most frequent type of EDS and is characterized by generalized joint hypermobility and musculoskeletal manifestations which are associated with chronic pain, and mild skin involvement along with the pre
Externí odkaz:
https://doaj.org/article/e39ecb1dab794008b454895f1de81445
Publikováno v:
PLoS ONE, Vol 14, Iss 2, p e0211647 (2019)
Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connec
Externí odkaz:
https://doaj.org/article/ff137b09caf5400c93e05ef8944f0a6a
Autor:
Daisy Rymen, Marco Ritelli, Nicoletta Zoppi, Valeria Cinquina, Cecilia Giunta, Marianne Rohrbach, Marina Colombi
Publikováno v:
Genes, Vol 10, Iss 11, p 843 (2019)
The Ehlers-Danlos syndromes (EDS) constitute a clinically and genetically heterogeneous group of connective tissue disorders. Tenascin X (TNX) deficiency is a rare type of EDS, defined as classical-like EDS (clEDS), since it phenotypically resembles
Externí odkaz:
https://doaj.org/article/00a5161e875741eaabd2f68aa0cb773c
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191220 (2018)
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The
Externí odkaz:
https://doaj.org/article/12196f0f8cc64d85857cd1c1602faf3c
Autor:
Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 1-15 (2015)
Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, includ
Externí odkaz:
https://doaj.org/article/deb12e062b814acfa188203b3ebd2c4f
Publikováno v:
Genes, Vol 10, Iss 8, p 609 (2019)
The Ehlers‒Danlos syndromes (EDS) constitute a heterogenous group of connective tissue disorders characterized by joint hypermobility, skin abnormalities, and vascular fragility. The latest nosology recognizes 13 types caused by pathogenic variants
Externí odkaz:
https://doaj.org/article/aa26d5c583d344108bee48f9f39ada2d
Autor:
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Chiara Dordoni, Marco Ritelli, Marina Venturini, Marco Castori, Marina Colombi
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0161347 (2016)
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications
Externí odkaz:
https://doaj.org/article/ba4cb0414d814516aa7b8789d925e862
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 4, p 982 (2018)
The αvβ3 integrin, an endothelial cells’ receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved
Externí odkaz:
https://doaj.org/article/91c735b63f8c45b5bf319336915da73d
Autor:
Alessandra Gamberucci, Paola Marcolongo, Csilla E. Németh, Nicoletta Zoppi, András Szarka, Nicola Chiarelli, Tamás Hegedűs, Marco Ritelli, Giulia Carini, Andy Willaert, Bert L. Callewaert, Paul J. Coucke, Angiolo Benedetti, Éva Margittai, Rosella Fulceri, Gábor Bánhegyi, Marina Colombi
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 8, p 1820 (2017)
GLUT10 belongs to a family of transporters that catalyze the uptake of sugars/polyols by facilitated diffusion. Loss-of-function mutations in the SLC2A10 gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS). Since subcellular d
Externí odkaz:
https://doaj.org/article/d101c6e0e46f48b48933b1e9872c2faf