Mutation of the Mg(2+) Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype

Por Hurd, Toby W., Otto, Edgar A., Mishima, Eikan, Gee, Heon Yung, Inoue, Hana, Inazu, Masato, Yamada, Hideomi, Halbritter, Jan, Seki, George, Konishi, Masato, Zhou, Weibin, Yamane, Tsutomo, Murakami, Satoshi, Caridi, Gianluca, Ghiggeri, Gianmarco, Abe, Takaaki, Hildebrandt, Friedhelm
Publicado em 2013

A prospective observational study of associated anomalies in Hirschsprung’s disease

Por Pini Prato, Alessio, Rossi, Valentina, Mosconi, Manuela, Holm, Catarina, Lantieri, Francesca, Griseri, Paola, Ceccherini, Isabella, Mavilio, Domenico, Jasonni, Vincenzo, Tuo, Giulia, Derchi, Maria, Marasini, Maurizio, Magnano, Gianmichele, Granata, Claudio, Ghiggeri, Gianmarco, Priolo, Enrico, Sposetti, Lorenza, Porcu, Adelina, Buffa, Piero, Mattioli, Girolamo
Publicado no Orphanet J Rare Dis (2013)

Local TNF causes NFATc1-dependent cholesterol-mediated podocyte injury

Por Pedigo, Christopher E., Ducasa, Gloria Michelle, Leclercq, Farah, Sloan, Alexis, Mitrofanova, Alla, Hashmi, Tahreem, Molina-David, Judith, Ge, Mengyuan, Lassenius, Mariann I., Forsblom, Carol, Lehto, Markku, Groop, Per-Henrik, Kretzler, Matthias, Eddy, Sean, Martini, Sebastian, Reich, Heather, Wahl, Patricia, Ghiggeri, GianMarco, Faul, Christian, Burke, George W., Kretz, Oliver, Huber, Tobias B., Mendez, Armando J., Merscher, Sandra, Fornoni, Alessia
Publicado no J Clin Invest (2016)