Search Results - "CARIDI, GIANLUCA"

Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects by Caridi, Gianluca, Lugani, Francesca, Angeletti, Andrea, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo

“…The human albumin gene, the most abundant serum protein, is located in the long arm of chromosome 4, near the centromere, position 4q11-3. It is divided by 14…”
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Low-dose ofatumumab for multidrug-resistant nephrotic syndrome in children: a randomized placebo-controlled trial by Ravani, Pietro, Pisani, Isabella, Bodria, Monica, Caridi, Gianluca, Degl’Innocenti, Maria Ludovica, Ghiggeri, Gian Marco

“…Background Children with multidrug-resistant nephrotic syndrome (MRNS) are exposed to drug toxicity (steroids/calcineurin inhibitors (CNI)/mycophenolate…”
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Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia by Minchiotti, Lorenzo, Caridi, Gianluca, Campagnoli, Monica, Lugani, Francesca, Galliano, Monica, Kragh-Hansen, Ulrich

“…Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly…”
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Microplastics and Kidneys: An Update on the Evidence for Deposition of Plastic Microparticles in Human Organs, Tissues and Fluids and Renal Toxicity Concern by La Porta, Edoardo, Exacoustos, Ottavia, Lugani, Francesca, Angeletti, Andrea, Chiarenza, Decimo Silvio, Bigatti, Carolina, Spinelli, Sonia, Kajana, Xhuliana, Garbarino, Andrea, Bruschi, Maurizio, Candiano, Giovanni, Caridi, Gianluca, Mancianti, Nicoletta, Calatroni, Marta, Verzola, Daniela, Esposito, Pasquale, Viazzi, Francesca, Verrina, Enrico, Ghiggeri, Gian Marco

“…Plastic pollution became a main challenge for human beings as demonstrated by the increasing dispersion of plastic waste into the environment. Microplastics…”
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Biologics in steroid resistant nephrotic syndrome in childhood: review and new hypothesis-driven treatment by Angeletti, Andrea, Bruschi, Maurizio, Kajana, Xhuliana, La Porta, Edoardo, Spinelli, Sonia, Caridi, Gianluca, Lugani, Francesca, Verrina, Enrico Eugenio, Ghiggeri, Gian Marco

“…Nephrotic syndrome affects about 2–7 per 100,000 children yearly and accounts for less than 15% of end stage kidney disease. Steroids still represent the…”
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Randomised controlled trial comparing rituximab to mycophenolate mofetil in children and young adults with steroid-dependent idiopathic nephrotic syndrome: study protocol by Lugani, Francesca, Angeletti, Andrea, Ravani, Pietro, Vivarelli, Marina, Colucci, Manuela, Caridi, Gianluca, Verrina, Enrico, Emma, Francesco, Ghiggeri, Gian Marco

“…IntroductionGlucocorticoids induce remission in 90% of children with idiopathic nephrotic syndrome (INS). Some become steroid-dependent (SD) and require the…”
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Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein by Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca

“…Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a genetically heterogeneous renal disorder leading to progressive loss of renal function…”
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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis by den Hollander, Anneke I, Dallapiccola, Bruno, Ayuso, Carmen, Caridi, Gianluca, Brancati, Francesco, Kispert, Andreas, Gudiseva, Harini V, Louie, Carrie M, Koenekoop, Robert K, Ayyagari, Radha, Leitges, Michael, Lopez, Irma, Vallespin, Elena, Otto, Edgar A, Williams, David S, Lopes, Vanda S, Valente, Enza Maria, Gleeson, Joseph G, Lancaster, Madeline A, Cremers, Frans P M, Hildebrandt, Friedhelm, O'Toole, John F, Gröne, Hermann-Josef, Ghiggeri, Gian Marco, Schlossman, Andrew M

“…Degeneration of photoreceptors is a common feature of ciliopathies, owing to the importance of the specialized ciliary structure of these cells. Mutations in…”
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TRPC6 Mutations in Children with Steroid-Resistant Nephrotic Syndrome and Atypical Phenotype by Gigante, Maddalena, Caridi, Gianluca, Montemurno, Eustacchio, Soccio, Mario, d'Apolito, Maria, Cerullo, Giuseppina, Aucella, Filippo, Schirinzi, Annalisa, Emma, Francesco, Massella, Laura, Messina, Giovanni, De Palo, Tommaso, Ranieri, Elena, Ghiggeri, Gian Marco, Gesualdo, Loreto

“…Mutations in the TRPC6 gene have been recently identified as the cause of late-onset autosomal-dominant focal segmental glomerulosclerosis (FSGS). To extend…”
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Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities? by Gentile, Micaela, Miano, Maurizio, Terranova, Paola, Giardino, Stefano, Faraci, Maura, Pierri, Filomena, Drago, Enrico, Verzola, Daniela, Ghiggeri, Gianmarco, Verrina, Enrico, Angeletti, Andrea, Cafferata, Barbara, Grossi, Alice, Ceccherini, Isabella, Caridi, Gianluca, Lugani, Francesca, Nescis, Lorenzo, Fiaccadori, Enrico, Lanino, Luca, Fenoglio, Daniela, La Porta, Edoardo

“…The Forkhead box protein P3 (FOXP3) is a transcription factor central to the function of regulatory T cells (Treg). Mutations in the gene lead to a systemic…”
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Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype by HURD, Toby W, OTTO, Edgar A, WEIBIN ZHOU, YAMANE, Tsutomo, MURAKAMI, Satoshi, CARIDI, Gianluca, GHIGGERI, Gianmarco, ABE, Takaaki, HILDEBRANDT, Friedhelm, MISHIMA, Eikan, HEON YUNG GEE, INOUE, Hana, INAZU, Masato, YAMADA, Hideomi, HALBRITTER, Jan, SEKI, George, KONISHI, Masato

“…Nephronophthisis (NPHP)-related ciliopathies are recessive, single-gene disorders that collectively make up the most common genetic cause of CKD in the first…”
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Molecular and Cellular Mechanisms for Proteinuria in Minimal Change Disease by Bertelli, Roberta, Bonanni, Alice, Caridi, Gianluca, Canepa, Alberto, Ghiggeri, G M

“…Minimal Change Disease (MCD) is a clinical condition characterized by acute nephrotic syndrome, no evident renal lesions at histology and good response to…”
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Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern by Prato, Giulia, De Grandis, Elisa, Mancardi, Maria Margherita, Cordani, Ramona, Giacomini, Thea, Pisciotta, Livia, Uccella, Sara, Severino, Mariasavina, Tortora, Domenico, Pavanello, Marco, Bertamino, Marta, Verrina, Enrico, Caridi, Gianluca, Di Rocco, Maja, Nobili, Lino

“…Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture…”
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Anti-glutathione S-transferase theta 1 antibodies correlate with graft loss in non-sensitized pediatric kidney recipients by Comoli, Patrizia, Cioni, Michela, Ray, Bryan, Tagliamacco, Augusto, Innocente, Annalisa, Caridi, Gianluca, Bruschi, Maurizio, Hariharan, Jayasree, Fontana, Iris, Trivelli, Antonella, Magnasco, Alberto, Nocco, Angela, Klersy, Catherine, Muscianisi, Stella, Ghiggeri, Gian Marco, Cardillo, Massimo, Verrina, Enrico, Nocera, Arcangelo, Ginevri, Fabrizio

“…Immunity to Human leukocyte antigen (HLA) cannot explain all cases of ABMR, nor the differences observed in the outcome of kidney recipients with circulating…”
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Familial forms of nephrotic syndrome by Caridi, Gianluca, Trivelli, Antonella, Sanna-Cherchi, Simone, Perfumo, Francesco, Ghiggeri, Gian Marco

“…The recent discovery of genes involved in familial forms of nephrotic syndrome represents a break-through in nephrology. To date, 15 genes have been…”
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Recurrent Hypoglycemia in a Case of Congenital Analbuminemia by Minchiotti, Lorenzo, Campagnoli, Monica, Lugani, Francesca, Caridi, Gianluca, Litzel, Martin, Fischli, Stefan

“…In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been…”
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Genetic approaches to human renal agenesis/hypoplasia and dysplasia by Sanna-Cherchi, Simone, Caridi, Gianluca, Weng, Patricia L, Scolari, Francesco, Perfumo, Francesco, Gharavi, Ali G, Ghiggeri, Gian Marco

“…Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality…”
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Uromodulin storage diseases: Clinical aspects and mechanisms by Scolari, Francesco, Caridi, Gianluca, Rampoldi, Luca, Tardanico, Regina, Izzi, Claudia, Pirulli, Doroti, Amoroso, Antonio, Casari, Giorgio, Ghiggeri, Gian Marco

“…The recent discovery of mutations in the uromodulin gene ( UMOD) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile…”
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Urinary secretion and extracellular aggregation of mutant uromodulin isoforms by Schaeffer, Céline, Cattaneo, Angela, Trudu, Matteo, Santambrogio, Sara, Bernascone, Ilenia, Giachino, Daniela, Caridi, Gianluca, Campo, Andrea, Murtas, Corrado, Benoni, Simona, Izzi, Claudia, De Marchi, Mario, Amoroso, Antonio, Ghiggeri, Gian Marco, Scolari, Francesco, Bachi, Angela, Rampoldi, Luca

“…Uromodulin is exclusively expressed in the thick ascending limb and is the most abundant protein secreted in urine where it is found in high-molecular-weight…”
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Albuminuria and Glomerular Damage in Mice Lacking the Metabotropic Glutamate Receptor 1 by Puliti, Aldamaria, Rossi, Pia Irene Anna, Caridi, Gianluca, Corbelli, Alessandro, Ikehata, Masami, Armelloni, Silvia, Li, Min, Zennaro, Cristina, Conti, Valerio, Vaccari, Carlotta Maria, Cassanello, Michela, Calevo, Maria Grazia, Emionite, Laura, Ravazzolo, Roberto, Rastaldi, Maria Pia

“…The metabotropic glutamate (mGlu) receptor 1 (GRM1) has been shown to play an important role in neuronal cells by triggering, through calcium release from…”
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