Search Results - "Martorana, Davide"

Genetically Distinct Subsets within ANCA-Associated Vasculitis by Lyons, Paul A, Rayner, Tim F, Trivedi, Sapna, Holle, Julia U, Watts, Richard A, Jayne, David R.W, Baslund, Bo, Brenchley, Paul, Bruchfeld, Annette, Chaudhry, Afzal N, Cohen Tervaert, Jan Willem, Deloukas, Panos, Feighery, Conleth, Gross, Wolfgang L, Guillevin, Loic, Gunnarsson, Iva, Harper, Lorraine, Hrušková, Zdenka, Little, Mark A, Martorana, Davide, Neumann, Thomas, Ohlsson, Sophie, Padmanabhan, Sandosh, Pusey, Charles D, Salama, Alan D, Sanders, Jan-Stephan F, Savage, Caroline O, Segelmark, Mårten, Stegeman, Coen A, Tesař, Vladimir, Vaglio, Augusto, Wieczorek, Stefan, Wilde, Benjamin, Zwerina, Jochen, Rees, Andrew J, Clayton, David G, Smith, Kenneth G.C

“…This study confirms the presence of a genetic component of the pathogenesis of antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis and genetic…”
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Genetic and Non-Genetic Contributions to Eosinophilic Granulomatosis with Polyangiitis: Current Knowledge and Future Perspectives by Treccani, Mirko, Veschetti, Laura, Patuzzo, Cristina, Malerba, Giovanni, Vaglio, Augusto, Martorana, Davide

“…In this work, we present a comprehensive overview of the genetic and non-genetic complexity of eosinophilic granulomatosis with polyangiitis (EGPA). EGPA is a…”
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Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1 by Cannizzaro, Ilenia Rita, Treccani, Mirko, Taiani, Antonietta, Ambrosini, Enrico, Busciglio, Sabrina, Cesarini, Sofia, Luberto, Anita, De Sensi, Erika, Moschella, Barbara, Gismondi, Pierpacifico, Azzoni, Cinzia, Bottarelli, Lorena, Giordano, Giovanna, Corradi, Domenico, Silini, Enrico Maria, Zanatta, Valentina, Cennamo, Federica, Bertolini, Patrizia, Caggiati, Patrizia, Martorana, Davide, Uliana, Vera, Percesepe, Antonio, Barili, Valeria

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by the predisposition to develop tumors such as malignant peripheral…”
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Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody–associated vasculitis by Alberici, Federico, MD, Smith, Rona M., MD, Fonseca, Mariana, PhD, Willcocks, Lisa C., PhD, Jones, Rachel B., MD, Holle, Julia U., PhD, Wieczorek, Stefan, MD, Neumann, Thomas, PhD, Martorana, Davide, PhD, Gregorini, Gina, MD, Sinico, Renato A., MD, Bruchfeld, Annette, PhD, Gunnarsson, Iva, PhD, Ohlsson, Sophie, PhD, Baslund, Bo, PhD, Tesar, Vladimir, PhD, Hruskova, Zdenka, PhD, Cid, Maria C., PhD, Vaglio, Augusto, PhD, Lyons, Paul A., PhD, Smith, Kenneth G.C., PhD, Jayne, David R.W., MD

“…To the Editor: Rituximab is effective at inducing and maintaining remission in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV).1,2 The…”
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Genetic Susceptibility to ANCA-Associated Vasculitis: State of the Art by Bonatti, Francesco, Reina, Michele, Neri, Tauro Maria, Martorana, Davide

“…ANCA-associated vasculitis (AAV) is a group of disorders that is caused by inflammation affecting small blood vessels. Both arteries and veins are affected…”
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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I by Bonatti, Francesco, Adorni, Alessia, Matichecchia, Annalisa, Mozzoni, Paola, Uliana, Vera, Pisani, Francesco, Garavelli, Livia, Graziano, Claudio, Gnoli, Maria, Carli, Diana, Bigoni, Stefania, Boschi, Elena, Martorana, Davide, Percesepe, Antonio

“…Neurofibromatosis type I, a genetic disorder due to mutations in the gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but,…”
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Fcγ-receptor 3B ( FCGR3B ) copy number variations in patients with eosinophilic granulomatosis with polyangiitis by Martorana, Davide, PhD, Bonatti, Francesco, PhD, Alberici, Federico, MD, Gioffredi, Andrea, MD, Reina, Michele, PhD, Urban, Maria L., MD, Maritati, Federica, MD, Adorni, Alessia, PhD, Radice, Antonella, PhD, Pizzolato, Silvia, MD, Gregorini, Gina, MD, Jeannin, Guido, MD, Guida, Giuseppe, MD, PhD, Boita, Monica, PhD, Pesci, Alberto, MD, Moroni, Gabriella, MD, Neri, Tauro M., MD, Sinico, Renato A., MD, Vaglio, Augusto, MD, PhD

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FCGR2A single nucleotide polymorphism confers susceptibility to childhood-onset idiopathic nephrotic syndrome by Rossi, Giovanni M., Bonatti, Francesco, Adorni, Alessia, Alberici, Federico, Bodria, Monica, Bonanni, Alice, Ghiggeri, Gian M., Martorana, Davide, Vaglio, Augusto

“…•Idiopathic nephrotic syndrome is a rare disease with indirect evidence of an immune-mediated pathogenesis.•103 children affected by idiopathic nephrotic…”
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PTPN22 R620W polymorphism in the ANCA-associated vasculitides by MARTORANA, Davide, MARITATI, Federica, FRATICELLI, Paolo, GUIDA, Giuseppe, GREGORINI, Gina, POSSENTI, Stefano, MORONI, Gabriella, LEONI, Antonio, PAVONE, Laura, PESCI, Alberto, SINICO, Renato A, TOMA, Lucafrancesco Di, MALERBA, Giovanni, D'AMICO, Marco, TUMIATI, Bruno, D'IPPOLITO, Raffaele, BUZIO, Carlo, NERI, Tauro M, VAGLIO, Augusto, BONATTI, Francesco, ALBERICI, Federico, OLIVA, Elena, SEBASTIO, Paola, MANENTI, Lucio, BRUGNANO, Rachele, CATANOSO, Maria G

“…PTPN22 is involved in T-cell activation and its R620W single-nucleotide polymorphism (SNP) has been shown to predispose to different autoimmune diseases. The…”
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TLR-4 and VEGF polymorphisms in chronic periaortitis by Atzeni, Fabiola, Boiardi, Luigi, Vaglio, Augusto, Nicoli, Davide, Farnetti, Enrico, Palmisano, Alessandra, Pipitone, Nicolò, Martorana, Davide, Moroni, Gabriella, Longhi, Selena, Bonatti, Francesco, Buzio, Carlo, Salvarani, Carlo

“…Chronic periaortitis (CP) is a rare disease that is characterised by fibro-inflammatory tissue surrounding the abdominal aorta and has both non-aneurysmal…”
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Neurofibromatosis type I and multiple myeloma coexistence: A possible link? by Accardi, Fabrizio, Marchica, Valentina, Mancini, Cristina, Maredi, Elena, Racano, Costantina, Notarfranchi, Laura, Martorana, Davide, Storti, Paola, Martella, Eugenia, Palma, Benedetta Dalla, Craviotto, Luisa, Filippo, Massimo De, Percesepe, Antonio, Aversa, Franco, Giuliani, Nicola

“…The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the…”
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Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV by Rocci, Anna, Paganelli, Enrico, Rossetti, Angelo, Marcato, Carla, Martorana, Davide, Tassoni, Maria Ilaria, Quintavalla, Roberto

“…We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and…”
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Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas by Ponti, Giovanni, Losi, Lorena, Martorana, Davide, Priola, Manuela, Boni, Elisa, Pollio, Annamaria, Neri, Tauro Maria, Seidenari, Stefania

“…Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibromatosis type 1 (NF1), a common autosomal dominant disorder affecting 1…”
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Genetics of ANCA-associated vasculitis: role in pathogenesis, classification and management by Trivioli, Giorgio, Marquez, Ana, Martorana, Davide, Tesi, Michelangelo, Kronbichler, Andreas, Lyons, Paul A., Vaglio, Augusto

“…Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and…”
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Giant cell arteritis: when genomics drives precision medicine by Martorana, Davide, Bajema, Ingeborg M

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Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status by Lyons, Paul A, Peters, James E, Alberici, Federico, Liley, James, Coulson, Richard M. R., Astle, William, Baldini, Chiara, Bonatti, Francesco, Cid, Maria C, Elding, Heather, Emmi, Giacomo, Epplen, Jörg, Guillevin, Loïc, Jayne, David R. W., Jiang, Tao, Gunnarsson, Iva, Lamprecht, Peter, Leslie, Stephen, Little, Mark A., Martorana, Davide, Moosig, Frank, Neumann, Thomas, Ohlsson, Sophie, Quickert, Stefanie, Ramirez, Giuseppe A., Rewerska, Barbara, Schett, Georg, Sinico, Renato A., Szczeklik, Wojciech, Tesar, Vladimir, Vukcevic, Damjan, Terrier, Benjamin, Watts, Richard A, Vaglio, Augusto, Holle, Julia U, Wallace, Chris, Smith, Kenneth G. C.

“…Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic…”
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F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study by Quintavalle, Gabriele, Riccardi, Federica, Rivolta, Gianna Franca, Martorana, Davide, Di Perna, Caterina, Percesepe, Antonio, Tagliaferri, Annarita

“…Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical…”
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Genetic aspects of anti-neutrophil cytoplasmic antibody-associated vasculitis by Alberici, Federico, Martorana, Davide, Vaglio, Augusto

“…The genetics of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a complex area of investigation because of the low frequency of…”
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2684 DIAGNOSTIC YIELD OF A TARGETED GENE PANEL FOR MONOGENIC KIDNEY DISEASES: A EUROPEAN STUDY by Giovanella, Silvia, Poyatos Andújar, Antonio M, Avila-Fernandez, Almudena, Bustamante-Aragones, Ana, Percesepe, Antonio, Martorana, Davide, Terracciano, Alessandra, Massella, Laura, Ligabue, Giulia, Testa, Francesca, Ferri, Camilla, Marino, Marco, Tagliafico, Enrico, Calabrese, Olga, Donati, Gabriele, Magistroni, Riccardo

“…Abstract Background and Aims Despite advances in understanding the underlying causes of CKD, 20% of cases remain unexplained (1). A genomic approach has the…”
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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations by Martorana, Davide, Bonatti, Francesco, Mozzoni, Paola, Vaglio, Augusto, Percesepe, Antonio

“…Autoinflammatory diseases (AIDs) are a genetically heterogeneous group of diseases caused by mutations of genes encoding proteins, which play a pivotal role in…”
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