S
Sara Gamba
Researcher at Mario Negri Institute for Pharmacological Research
Publications - 41
Citations - 3081
Sara Gamba is an academic researcher from Mario Negri Institute for Pharmacological Research. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 11, co-authored 27 publications receiving 2708 citations. Previous affiliations of Sara Gamba include Washington University in St. Louis.
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Journal ArticleDOI
Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype
Marina Noris,Jessica Caprioli,Elena Bresin,Chiara Mossali,Gaia Pianetti,Sara Gamba,Erica Daina,Chiara Fenili,Federica Castelletti,Annalisa Sorosina,Rossella Piras,Roberta Donadelli,Ramona Maranta,Irene van der Meer,Edward M. Conway,Peter F. Zipfel,Timothy H.J. Goodship,Giuseppe Remuzzi +17 more
TL;DR: Results underline the need of genetic screening for all susceptibility factors as part of clinical management of aHUS and for identification of patients who could safely benefit from kidney transplant.
Journal ArticleDOI
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Jessica Caprioli,Marina Noris,Simona Brioschi,Gaia Pianetti,Federica Castelletti,Paola Bettinaglio,Caterina Mele,Elena Bresin,Linda Cassis,Sara Gamba,Francesca Porrati,Sara Bucchioni,Giuseppe Monteferrante,Celia J. Fang,M K Liszewski,David J. Kavanagh,John P. Atkinson,Giuseppe Remuzzi +17 more
TL;DR: The presentation, the response to therapy, and the outcome of the disease are influenced by the genotype, which will translate into improved management and therapy of patients and will provide the way to design tailored treatments.
Journal ArticleDOI
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
Jessica Caprioli,Federica Castelletti,Sara Bucchioni,Paola Bettinaglio,Elena Bresin,Gaia Pianetti,Sara Gamba,Simona Brioschi,Erica Daina,Giuseppe Remuzzi,Marina Noris +10 more
TL;DR: HF1 mutations are frequent in patients with HUS (24%) and common polymorphisms of HF1 may contribute to D-HUS manifestation in subjects with and without HF1 mutations.
Journal ArticleDOI
The Molecular Basis of Familial Hemolytic Uremic Syndrome: Mutation Analysis of Factor H Gene Reveals a Hot Spot in Short Consensus Repeat 20
Jessica Caprioli,Paola Bettinaglio,Peter F. Zipfel,Barbara Amadei,Erica Daina,Sara Gamba,Christine Skerka,Nicola Marziliano,Giuseppe Remuzzi,Marina Noris +9 more
TL;DR: Analysis of linkage and mutation studies in a large number of patients from those referred to the Italian Registry for Recurrent and Familial HUS/TTP provides compelling molecular evidence that genetically determined deficiencies in factor H are involved in both autosomal-dominant and autosome-recessive hemolytic uremic syndrome.
Journal ArticleDOI
Familial haemolytic uraemic syndrome and an MCP mutation.
Marina Noris,Simona Brioschi,Jessica Caprioli,Marta Todeschini,Elena Bresin,Francesca Porrati,Sara Gamba,Giuseppe Remuzzi +7 more
TL;DR: It is proposed that reduced expression of MCP in response to complement-activating stimuli could prevent restriction of complement deposition on glomerular endothelial cells, leading to microvascular cell damage and tissue injury.