Search Results - "CAPRIOLI, Jessica"

Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype by BRESIN, Elena, RURALI, Erica, VALOTI, Elisabetta, REMUZZI, Giuseppe, NORIS, Marina, CAPRIOLI, Jessica, SANCHEZ-CORRAL, Pilar, FREMEAUX-BACCHI, Veronique, DE CORDOBA, Santiago Rodriguez, PINTO, Sheila, GOODSHIP, Timothy H. J, ALBERTI, Marta, RIBES, David

“…Several abnormalities in complement genes reportedly contribute to atypical hemolytic uremic syndrome (aHUS), but incomplete penetrance suggests that…”
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Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype by Noris, Marina, Caprioli, Jessica, Bresin, Elena, Mossali, Chiara, Pianetti, Gaia, Gamba, Sara, Daina, Erica, Fenili, Chiara, Castelletti, Federica, Sorosina, Annalisa, Piras, Rossella, Donadelli, Roberta, Maranta, Ramona, van der Meer, Irene, Conway, Edward M, Zipfel, Peter F, Goodship, Timothy H, Remuzzi, Giuseppe

“…Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Most childhood cases are caused…”
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Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome by Caprioli, Jessica, Noris, Marina, Brioschi, Simona, Pianetti, Gaia, Castelletti, Federica, Bettinaglio, Paola, Mele, Caterina, Bresin, Elena, Cassis, Linda, Gamba, Sara, Porrati, Francesca, Bucchioni, Sara, Monteferrante, Giuseppe, Fang, Celia J., Liszewski, M.K., Kavanagh, David, Atkinson, John P., Remuzzi, Giuseppe

“…Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic…”
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Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome by Manuelian, Tamara, Hellwage, Jens, Meri, Seppo, Caprioli, Jessica, Noris, Marina, Heinen, Stefan, Jozsi, Mihaly, Neumann, Hartmut P H, Remuzzi, Giuseppe, Zipfel, Peter F

“…Hemolytic uremic syndrome (HUS) is a disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Recent studies have…”
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Familial haemolytic uraemic syndrome and an MCP mutation by Noris, Marina, Brioschi, Simona, Caprioli, Jessica, Todeschini, Marta, Bresin, Elena, Porrati, Francesca, Gamba, Sara, Remuzzi, Giuseppe

“…Mutations in factor H (HF1) have been reported in a consistent number of diarrhoea-negative, non-Shiga toxin-associated cases of haemolytic uraemic syndrome…”
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Mutations in FN1 cause glomerulopathy with fibronectin deposits by Castelletti, Federica, Donadelli, Roberta, Banterla, Federica, Hildebrandt, Friedhelm, Zipfel, Peter F, Bresin, Elena, Otto, Edgar, Skerka, Christine, Renieri, Alessandra, Todeschini, Marta, Caprioli, Jessica, Caruso, Rosa Maria, Artuso, Rosangela, Remuzzi, Giuseppe, Noris, Marina

“…Glomerulopathy with fibronectin (FN) deposits (GFND) is an autosomal dominant disease with age-related penetrance, characterized by proteinuria, microscopic…”
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von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome by Remuzzi, Giuseppe, Galbusera, Miriam, Noris, Marina, Canciani, Maria Teresa, Daina, Erica, Bresin, Elena, Contaretti, Silvia, Caprioli, Jessica, Gamba, Sara, Ruggenenti, Piero, Perico, Norberto, Mannucci, Pier Mannuccio

“…Whether measurement of ADAMTS13 activity may enable physicians to distinguish thrombotic thrombocytopenic purpura (TTP) from hemolytic uremic syndrome (HUS) is…”
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Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease by Caprioli, Jessica, Castelletti, Federica, Bucchioni, Sara, Bettinaglio, Paola, Bresin, Elena, Pianetti, Gaia, Gamba, Sara, Brioschi, Simona, Daina, Erica, Remuzzi, Giuseppe, Noris, Marina

“…Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-associated and diarrhoea-negative haemolytic uraemic syndrome (D−HUS). We…”
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Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome by Manuelian, T, Hellwage, J, Meri, S, Caprioli, J, Noris, M, Heinen, S, Jozsi, M, Neumann, HPH, Remuzzi, G, Zipfel, P F

“…Hemolytic uremic syndrome (HUS) is a disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Recent studies have…”
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Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement by NORIS, Marina, BUCCHIONI, Sara, GALBUSERA, Miriam, DONADELLI, Roberta, BRESIN, Elena, CASTELLETTI, Federica, CAPRIOLI, Jessica, BRIOSCHI, Simona, SCHEIFLINGER, Friedrich, REMUZZI, Giuseppe

“…Thrombotic thrombocytopenic purpura is a rare disorder of small vessels that is associated with deficiency of the von Willebrand factor-cleaving protease…”
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Combined kidney and liver transplantation for familial haemolytic uraemic syndrome by Remuzzi, Giuseppe, Ruggenenti, Piero, Codazzi, Daniela, Noris, Marina, Caprioli, Jessica, Locatelli, Giuseppe, Gridelli, Bruno

“…Recurrent haemolytic uraemic syndrome (HUS) is a genetic form of thrombotic microangiopathy that is mostly associated with low activity of complement factor H…”
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The molecular basis of Familial hemolytic uremic syndrome : Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20 by CAPRIOLI, Jessica, BETTINAGLIO, Paola, ZIPFEL, Peter F, AMADEI, Barbara, DAINA, Erica, GAMBA, Sara, SKERKA, Christine, MARZILIANO, Nicola, REMUZZI, Giuseppe, NORIS, Marina

“…The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing…”
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Polymorphisms of EDNRB, ATG, and ACE genes in salt-sensitive hypertension by Caprioli, Jessica, Mele, Caterina, Mossali, Chiara, Gallizioli, Laura, Giacchetti, Gilberta, Noris, Marina, Remuzzi, Giuseppe, Benigni, Ariela

“…Almost 50% of hypertensive individuals manifest blood pressure changes in response to salt depletion or repletion and are termed "salt sensitive" (SS). Blunted…”
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Complement hyperactivation may cause atypical haemolytic uraemic syndrome— gain-of-function mutations in factor B by Caprioli, Jessica, Remuzzi, Giuseppe

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A mouse model of non-Shiga toxin-associated haemolytic uraemic syndrome by Caprioli, Jessica, Remuzzi, Giuseppe

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The hemolytic uremic syndromes by Caprioli, Jessica, Peng, Li, Remuzzi, Giuseppe

“…Recent studies have provided a better understanding of the molecular mechanisms responsible for hemolytic uremic syndromes. In this review, we summarize…”
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Results for C3 and CFB genetic screening in atypical-HUS by Mossali, Chiara, Fenili, Chiara, Castelletti, Federica, Caprioli, Jessica, Pianetti, Gaia, Bresin, Elena, Remuzzi, Giuseppe, Noris, Marina

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Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura : Role of factor H abnormalities by NORIS, M, RUGGENENTI, P, PERNA, A, ORISIO, S, CAPRIOLI, J, SKERKA, C, VASILE, B, ZIPFEL, P. F, REMUZZI, G

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A retrospective analysis on disease onset, number of episodes and final outcome in CFH mutated non-Stx-HUS patients by Noris, Marina, Mossali, Chiara, Bresin, Elena, Castelletti, Federica, Pianetti, Gaia, Remuzzi, Giuseppe, Caprioli, Jessica

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Thrombotic microangiopathies: from animal models to human disease and cure by Caprioli, Jessica, Remuzzi, Giuseppe, Noris, Marina

“…Thrombotic microangiopathies are a group of microvascular disorders, with reduced organ perfusion and hemolytic anemia. The two most relevant conditions…”
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