Zobrazeno 1 - 10
of 67
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
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
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
Autor:
Simona Viglio, Nicoletta Zoppi, Antonella Sangalli, Angelo Gallanti, Sergio Barlati, Monica Mottes, Marina Colombi, Maurizia Valli
Publikováno v:
The Scientific World Journal, Vol 8, Pp 956-958 (2008)
Externí odkaz:
https://doaj.org/article/98b44addd7ac44e685ae52bec3c970a3
Autor:
Paola Fortugno, Rosanna Monetta, Valeria Cinquina, Chiara Rigon, Francesca Boaretto, Chiara De Luca, Nicoletta Zoppi, Luana Di Leandro, Emanuela De Domenico, Arianna Di Daniele, Rodolfo Ippoliti, Francesco Angelucci, Ernesto Di Cesare, Ruggero De Paulis, Leonardo Salviati, Marina Colombi, Francesco Brancati, Marco Ritelli
Pathogenic variants in TGFBR1 are a common cause of Loeys-Dietz syndrome (LDS) characterized by life-threatening aortic and arterial disease. Generally, these are missense changes in highly conserved amino acids in the serine-threonine kinase domain.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bec70ccd70c2800c09ed3cc7c1a0d8d
https://hdl.handle.net/11697/205221
https://hdl.handle.net/11697/205221
Autor:
Antonio Novelli, Anthony Vandersteen, Paola Grammatico, Erina Sasaki, Fransiska Malfait, Maja Di Rocco, Cecilia Giunta, Nicoletta Zoppi, Silvia Morlino, Dario Cocciadiferro, Alessandro Ferraris, Tommaso Mazza, Annalisa Madeo, Marianne Rohrbach, Emanuele Agolini, Marco Ritelli, Marina Colombi, Lucia Micale, Alan Hakim, Marco Castori, Willie Reardon, Sara Mackay
Publikováno v:
Clinical Genetics. 97:396-406
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described with variable features of bot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a7d623f49339c311450887a1e477b6
https://doi.org/10.1111/cge.13683
https://doi.org/10.1111/cge.13683
Autor:
Nicoletta Zoppi, Cecilia Gelfi, Marina Colombi, Marina Venturini, Marco Ritelli, Daniele Capitanio, Nicola Chiarelli
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease. 1867(4)
Hypermobile Ehlers-Danlos syndrome (hEDS), mainly characterized by generalized joint hypermobility and its complications, minor skin changes, and apparently segregating with an autosomal dominant pattern, is still without a known molecular basis. Hen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eeac94f66034ab7e7845d5354ebfac5
https://pubmed.ncbi.nlm.nih.gov/33383104
https://pubmed.ncbi.nlm.nih.gov/33383104