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Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies 1-gen-2020 Zacchia, M.; Marchese, E.; Trani, E. M.; Caterino, M.; Capolongo, G.; Perna, A.; Ruoppolo, M.; Capasso, G.
COVID-19, Low-Molecular-Weight Heparin, and Hemodialysis 1-gen-2020 Perna, A.; Capolongo, G.; Trepiccione, F.; Simeoni, M.; Zacchia, M.; Ingrosso, D.
Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet–Biedl Syndrome 1-gen-2020 Marchese, E.; Ruoppolo, M.; Perna, A.; Capasso, G.; Zacchia, M.
Urinary proteomics reveals key markers of salt sensitivity in hypertensive patients during saline infusion 1-gen-2021 Matafora, V.; Lanzani, C.; Zagato, L.; Manunta, P.; Zacchia, M.; Trepiccione, F.; Simonini, M.; Capasso, G.; Bachi, A.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria 1-gen-2021 Savige, J.; Storey, H.; Watson, E.; Hertz, J. M.; Deltas, C.; Renieri, A.; Mari, F.; Hilbert, P.; Plevova, P.; Byers, P.; Cerkauskaite, A.; Gregory, M.; Cerkauskiene, R.; Ljubanovic, D. G.; Becherucci, F.; Errichiello, C.; Massella, L.; Aiello, V.; Lennon, R.; Hopkinson, L.; Koziell, A.; Lungu, A.; Rothe, H. M.; Hoefele, J.; Zacchia, M.; Martic, T. N.; Gupta, A.; van Eerde, A.; Gear, S.; Landini, S.; Palazzo, V.; al-Rabadi, L.; Claes, K.; Corveleyn, A.; Van Hoof, E.; van Geel, M.; Williams, M.; Ashton, E.; Belge, H.; Ars, E.; Bierzynska, A.; Gangemi, C.; Lipska-Zietkiewicz, B. S.
Brain dysfunction in tubular and tubulointerstitial kidney diseases 1-gen-2021 Viggiano, D; Bruchfeld, A; Carriazo, S; de Donato, A; Endlich, N; Ferreira, Ac; Figurek, A; Fouque, D; Franssen, Cfm; Giannakou, K; Goumenos, D; Hoorn, Ej; Nitsch, D; Arduan, Ao; Pešić, V; Rastenyté, D; Soler, Mj; Rroji, M; Trepiccione, F; Unwin, Rj; Wagner, Ca; Wiecek, A; Zacchia, M; Zoccali, C; Capasso, G; CONNECT Action (Cognitive Decline in Nephro-Neurology European Cooperative, Target).
A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations 1-gen-2021 Suzumoto, Yoko; Columbano, Valeria; Gervasi, Luciano; Giunta, Rosa; Mattina, Teresa; Trimarchi, Gabriele; Capolongo, Giovanna; Simeoni, Mariadelina; Perna, Alessandra F; Zacchia, Miriam; Toriello, Gianpiero; Pollastro, Rosa M; Rapisarda, Francesco; Capasso, Giovambattista; Trepiccione, Francesco
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation 1-gen-2021 Zacchia, Miriam; Blanco, Francesca Del Vecchio; Trepiccione, Francesco; Blasio, Giancarlo; Torella, Annalaura; Melluso, Andrea; Capolongo, Giovanna; Pollastro, Rosa Maria; Piluso, Giulio; Di Iorio, Valentina; Simonelli, Francesca; Viggiano, Davide; Perna, Alessandra; Nigro, Vincenzo; Capasso, Giovambattista
Guidelines for Genetic Testing and Management of Alport Syndrome 1-gen-2021 Savige, J; Lipska-Zietkiewicz, Bs; Watson, E; Hertz, Jm; Deltas, C; Mari, F; Hilbert, P; Plevova, P; Byers, P; Cerkauskaite, A; Gregory, M; Cerkauskiene, R; Ljubanovic, Dg; Becherucci, F; Errichiello, C; Massella, L; Aiello, V; Lennon, R; Hopkinson, L; Koziell, A; Lungu, A; Rothe, Hm; Hoefele, J; Zacchia, M; Martic, Tn; Gupta, A; van Eerde, A; Gear, S; Landini, S; Palazzo, V; Al-Rabadi, L; Claes, K; Corveleyn, A; Van Hoof, E; van Geel, M; Williams, M; Ashton, E; Belge, H; Ars, E; Bierzynska, A; Gangemi, C; Renieri, A; Storey, H; Flinter, F.
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients 1-gen-2021 Zacchia, Miriam; Blanco, Francesca Del Vecchio; Torella, Annalaura; Raucci, Raffaele; Blasio, Giancarlo; Onore, Maria Elena; Marchese, Emanuela; Trepiccione, Francesco; Vitagliano, Caterina; Iorio, Valentina Di; Perna, Alessandra; Simonelli, Francesca; Nigro, Vincenzo; Capasso, Giovambattista; Viggiano, Davide
Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome 1-gen-2021 Borrelli, P.; Zacchia, M.; Cavaliere, C.; Basso, L.; Salvatore, M.; Capasso, G.; Aiello, M.
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry 1-gen-2022 Limongelli, G; Iucolano, S; Monda, E; Elefante, P; De Stasio, C; Lubrano, I; Caiazza, M; Mazzella, M; Fimiani, F; Galdo, M; De Marchi, G; Esposito, M; Rubino, M; Cirillo, A; Fusco, A; Esposito, A; Trama, U; Esposito, S; Scarano, G; Sepe, J; Andria, G; Orlando, V; Menditto, E; Chiodini, P; Campania Rare, Disease; Iolascon, A; Franzese, A; Sanduzzi Zamparelli, A; Tessitore, A; Romano, A; Venosa, A; Nunzia Olivieri, A; Bianco, A; La Manna, A; Cerbone, Am; Spasiano, A; Agnese Stanziola, A; Colao, A; De Bellis, A; Gambale, A; Toriello, A; Tufano, A; Ciampa, A; Maria Risitano, A; Pisani, A; Russo, A; Volpe, A; De Martino, B; Amato, B; De Fusco, C; Piscopo, C; Selleri, C; Tucci, C; Pignata, C; Cioffi, D; Melis, D; Pasquali, D; De Brasi, D; Spitaleri, D; De Brasi, D; Russo, D; Martellotta, D; De Michele, E; Varricchio, E; Miraglia Del Giudice, E; Coscioni, E; Cimino, E; Pane, F; Tranfa, F; Pollio, F; Lonardo, F; Nuzzi, F; Simonelli, F; Trojsi, F; Habetswallner, F; Valentini, G; Cerbone, G; Parenti, G; Tedeschi, G; Capasso, G; Battista Rossi, G; Gaglione, G; Sarnelli, G; Argenziano, G; Bellastella, G; De Michele, G; Fiorentino, G; Spadaro, G; Scala, I; Santoro, L; Zeppa, L; Auricchio, L; Elio Adinolfi, L; Alessio, M; Amitrano, M; Savanelli, Mc; Russo, Mg; Ferrucci, Mg; Carbone, Mt; Pellecchia, Mt; Salerno, M; Melone, M; Del Donno, M; Vitale, M; Triggiani, M; Della Monica, M; Lo Presti, M; Tenuta, M; Mignogna, Md; Schiavulli, M; Zacchia, M; Brunetti-Pierri, N; Iovino, P; Moscato, P; Iandoli, R; Scarpa, R; Russo, R; Troisi, S; Sbordone, S; Perrotta, S; Fecarotta, S; Sampaolo, S; Cicalese, V.
Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet–Biedl Syndrome 1-gen-2022 Zacchia, M; Perna, A; Ingrosso, Diego
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells. 1-gen-2022 Marchese, Emanuela; Caterino, Marianna; Viggiano, Davide; Cevenini, Armando; Tolone, Salvatore; Docimo, Ludovico; DI IORIO, Valentina; Del VecchioBlanco, Francesca; Fedele, Roberta; Simonelli, Francesca; Perna, Alessandra; Nigro, Vincenzo; Capasso, Giovambattista; Ruoppolo, Margherita; Zacchia, Miriam
Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10) 1-gen-2022 Gupta, Neha; Mudassar Ali Khan, ⊥; Capasso, Giovambattista; Zacchia, Miriam
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins 1-gen-2022 Gupta, N.; D'Acierno, M.; Zona, E.; Capasso, G.; Zacchia, M.
Cyclosporin-induced hypertension is associated with the up-regulation of Na+-K+-2Cl- cotransporter (NKCC2) 1-gen-2023 Capolongo, Giovanna; Damiano, Sara; Suzumoto, Yoko; Zacchia, Miriam; Rizzo, Maria; Zona, Enrica; Pollastro, Rosa Maria; Simeoni, Mariadelina; Ciarcia, Roberto; Trepiccione, Francesco; Capasso, Giovambattista
Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook 1-gen-2023 Melluso, A; Secondulfo, F; Capolongo, G; Capasso, G; Zacchia, M
Treatment and long-term outcome in primary nephrogenic diabetes insipidus 1-gen-2023 Lopez-Garcia, Sergio C; Downie, Mallory L; Kim, Ji Soo; Boyer, Olivia; Walsh, Stephen B; Nijenhuis, Tom; Papizh, Svetlana; Yadav, Pallavi; Reynolds, Ben C; Decramer, Stéphane; Besouw, Martine; Perelló Carrascosa, Manel; La Scola, Claudio; Trepiccione, Francesco; Ariceta, Gema; Hummel, Aurélie; Dossier, Claire; Sayer, John A; Konrad, Martin; Keijzer-Veen, Mandy G; Awan, Atif; Basu, Biswanath; Chauveau, Dominique; Madariaga, Leire; Koster-Kamphuis, Linda; Furlano, Mónica; Zacchia, Miriam; Marzuillo, Pierluigi; Tse, Yincent; Dursun, Ismail; Pinarbasi, Ayse Seda; Tramma, Despoina; Hoorn, Ewout J; Gokce, Ibrahim; Nicholls, Kathleen; Eid, Loai A; Sartz, Lisa; Riordan, Michael; Hooman, Nakysa; Printza, Nikoleta; Bonny, Olivier; Arango Sancho, Pedro; Schild, Raphael; Sinha, Rajiv; Guarino, Stefano; Martinez Jimenez, Victor; Rodríguez Peña, Lidia; Belge, Hendrica; Devuyst, Olivier; Wlodkowski, Tanja; Emma, Francesco; Levtchenko, Elena; Knoers, Nine V A M; Bichet, Daniel G; Schaefer, Franz; Kleta, Robert; Bockenhauer, Detlef
miRNA-23a modulates sodium-hydrogen exchanger 1 expression: studies in medullary thick ascending limb of salt induced hypertensive rats 1-gen-2023 Lombari, Patrizia; Mallardo, Massimo; Petrazzuolo, Oriana; Nagoth, Joseph Amruthraj; Fiume, Giuseppe; Scanni, Roberto; Iervolino, Anna; Damiano, Sara; Coppola, Annapaola; Borriello, Margherita; Ingrosso, Diego; Perna, Alessandra; Zacchia, Miriam; Trepiccione, Francesco; Capasso, Giovambattista
Mostrati risultati da 61 a 80 di 82
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