Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Nicolò Borsa"'
Autor:
Gianluigi Ardissino, Selena Longhi, Luigi Porcaro, Giulia Pintarelli, Bice Strumbo, Valentina Capone, Donata Cresseri, Giulia Loffredo, Francesca Tel, Stefania Salardi, Martina Sgarbanti, Laura Martelli, Evangeline Millicent Rodrigues, Nicolò Borsa-Ghiringhelli, Giovanni Montini, Manuela Seia, Massimo Cugno, Fabio Carfagna, Dario Consonni, Silvana Tedeschi
Publikováno v:
Kidney International Reports, Vol 6, Iss 6, Pp 1614-1621 (2021)
Introduction: Atypical hemolytic uremic syndrome (aHUS) is mainly due to complement regulatory gene abnormalities with a dominant pattern but incomplete penetrance. Thus, healthy carriers can be identified in any family of aHUS patients, but it is un
Externí odkaz:
https://doaj.org/article/9c4a411b84e947be84e68998d1311488
Autor:
Kammi J. Henriksen, Mari Mori, Carla M. Nester, C. John Sperati, Ronald P. Taylor, Gabriella R. Pitcher, Yuzhou Zhang, Cindy Benson, Nicolò Borsa, Robin Kremsdorf, Renee X. Goodfellow, Richard J.H. Smith
Publikováno v:
Kidney Int
Atypical hemolytic uremic syndrome is an ultra-rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. Its pathogenesis is driven most frequently by dysregulated cell-surface control of the alternati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096147393d7382572286a160bb2f0f5d
https://doi.org/10.1016/j.kint.2020.05.028
https://doi.org/10.1016/j.kint.2020.05.028
Autor:
Selena Longhi, Massimo Cugno, Giulia Pintarelli, Donata Cresseri, Martina Sgarbanti, Francesca Tel, Fabio Carfagna, Manuela Seia, Stefania Salardi, Valentina Capone, Gianluigi Ardissino, Bice Strumbo, Dario Consonni, Giulia Loffredo, Laura Martelli, Giovanni Montini, Evangeline Millicent Rodrigues, Nicolò Borsa-Ghiringhelli, Luigi Porcaro, Silvana Tedeschi
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 6, Iss 6, Pp 1614-1621 (2021)
Kidney International Reports, Vol 6, Iss 6, Pp 1614-1621 (2021)
Introduction Atypical hemolytic uremic syndrome (aHUS) is mainly due to complement regulatory gene abnormalities with a dominant pattern but incomplete penetrance. Thus, healthy carriers can be identified in any family of aHUS patients, but it is unp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db243806807f4002f98deacdd342ffb
https://pubmed.ncbi.nlm.nih.gov/34169201
https://pubmed.ncbi.nlm.nih.gov/34169201
Autor:
Christoph Q. Schmidt, Dingwu Shao, Arthur Dopler, Richard J.H. Smith, Carla M. Nester, Gabriella R. Pitcher, Nicole C. Meyer, Nicolò Borsa, Amanda Taylor, Yuzhou Zhang, Michael N. Jones
Publikováno v:
Frontiers in Immunology
Frontiers in Immunology, Vol 11 (2020)
Frontiers in Immunology, Vol 11 (2020)
Factor H (FH), a member of the regulators-of-complement-activation (RCA) family of proteins, circulates in human plasma at concentrations of 180–420 mg/L where it controls the alternative pathway (AP) of complement in the fluid phase and on cell su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e141e05bd3dc2b2de19d61f8843c672b
Autor:
Richard J.H. Smith, Yuzhou Zhang, Michael N. Jones, Kai Wang, Nicolò Borsa, Carla M. Nester, Erika Takanami, Fengxiao Bu, Amanda Taylor, Kathy L. Frees, Christie P. Thomas, Nicole C. Meyer
Publikováno v:
Journal of the American Society of Nephrology. 29:2809-2819
BACKGROUND: Genetic variation in complement genes is a predisposing factor for atypical hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however interpreting the effects of genetic variants is challenging and often amb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a5e5c4c3bcfea04bafe9ed08636d1c
https://doi.org/10.1681/asn.2018070759
https://doi.org/10.1681/asn.2018070759
Autor:
Isaac E. Stillman, Neetika Garg, Richard J.H. Smith, Martha Pavlakis, Yuzhou Zhang, Nicole C. Meyer, Nicolò Borsa, Helmut G. Rennke, Anne Nicholson-Weller, Susan McDermott, Eliyahu V. Khankin
Publikováno v:
Nephrology Dialysis Transplantation. 33:2260-2265
Background C3 glomerulonephritis (C3GN) is caused by alternate complement pathway over-activation. It frequently progresses to end-stage renal disease, recurs in two-thirds of transplants and in half of these cases progresses to allograft loss. There
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939a851819538414ec6ac056a25daaa3
https://doi.org/10.1093/ndt/gfx369
https://doi.org/10.1093/ndt/gfx369
Autor:
Michael J. Schnieders, Jill Hauer, Fengxiao Bu, Hela Azaiez, Nicole C. Meyer, Erika Takanami, Elizabeth A. Black-Ziegelbein, Nicolò Borsa, Christie P. Thomas, Kathy L. Frees, Michael N. Jones, Diana L. Kolbe, Yingyue Li, Carla Nishimura, Carla M. Nester, Richard J.H. Smith
Publikováno v:
Journal of the American Society of Nephrology. 27:1245-1253
The thrombotic microangiopathies (TMAs) and C3 glomerulopathies (C3Gs) include a spectrum of rare diseases such as atypical hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, C3GN, and dense deposit disease, which share phenotypic simila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f499bfe47815def588c640bf60923a
https://doi.org/10.1681/asn.2015040385
https://doi.org/10.1681/asn.2015040385
Autor:
Timothy H.J. Goodship, Paula Vieira-Martins, Marina Noris, Richard J.H. Smith, Nicolò Borsa, Angela Ruiz, Fengxiao Bu, Véronique Frémeaux-Bacchi, Santiago Rodríguez de Córdoba, Stephen J. Perkins, Lambertus P. van den Heuvel, David J. Kavanagh, Amy J. Osborne, Daniel P. Gale, Valerie Wilson, Elena B. Volokhina, Sheila Pinto, Matteo Breno, Giuseppe Remuzzi, Pavithra M. Rallapalli
Publikováno v:
Journal of Immunology, 200, 2464-2478
Journal of Immunology, 200, 7, pp. 2464-2478
Journal of Immunology, 200, 7, pp. 2464-2478
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are associated with dysregulation and overactivation of the complement alternative pathway. Typically, gene analysis for aHUS and C3G is undertaken in small patient numbers, yet it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b89f9c9f57942bcd45402010cd77809
https://doi.org/10.4049/jimmunol.1701695
https://doi.org/10.4049/jimmunol.1701695
Autor:
Elena, Puricelli, Alberto, Bettinelli, Nicolò, Borsa, Francesca, Sironi, Camilla, Mattiello, Fabiana, Tammaro, Silvana, Tedeschi, Mario G, Bianchetti, Aurora, Rossodivita
Publikováno v:
Puricelli, Elena; Bettinelli, Alberto; Borsa, Nicolò; Sironi, Francesca; Mattiello, Camilla; Tammaro, Fabiana; Tedeschi, Silvana; Bianchetti, Mario G (2010). Long-term follow-up of patients with Bartter syndrome type I and II. Nephrology, dialysis, transplantation, 25(9), pp. 2976-2981. Oxford: Oxford University Press 10.1093/ndt/gfq119
BACKGROUND: Little information is available on a long-term follow-up in Bartter syndrome type I and II. METHODS: Clinical presentation, treatment and long-term follow-up (5.0-21, median 11 years) were evaluated in 15 Italian patients with homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::045f15b85a05ccf177a5349411c8c44d
http://doc.rero.ch/record/303001/files/gfq119.pdf
http://doc.rero.ch/record/303001/files/gfq119.pdf
Autor:
Richard Smith, Nicolò Borsa, Yuzhou Zhang, Jeffrey M. Saland, Corinne Benchimol, Gabriella R. Pitcher, Carla M. Nester, Adam Keenan, Sarah Roberts, Amanda Taylor, Kristofer May
Publikováno v:
Molecular Immunology. 102:232-233
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cab581ef7007ebad265f3885f555104f
https://doi.org/10.1016/j.molimm.2018.06.256
https://doi.org/10.1016/j.molimm.2018.06.256