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Page 1
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
Schaeffer C, Cattaneo A, Trudu M, Santambrogio S, Bernascone I, Giachino D, Caridi G, Campo A, Murtas C, Benoni S, Izzi C, De Marchi M, Amoroso A, Ghiggeri GM, Scolari F, Bachi A, Rampoldi L. Schaeffer C, et al. Among authors: trudu m. Kidney Int. 2012 Apr;81(8):769-78. doi: 10.1038/ki.2011.456. Epub 2012 Jan 11. Kidney Int. 2012. PMID: 22237754 Free article.
Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression.
Trudu M, Janas S, Lanzani C, Debaix H, Schaeffer C, Ikehata M, Citterio L, Demaretz S, Trevisani F, Ristagno G, Glaudemans B, Laghmani K, Dell'Antonio G; SKIPOGH team; Loffing J, Rastaldi MP, Manunta P, Devuyst O, Rampoldi L. Trudu M, et al. Nat Med. 2013 Dec;19(12):1655-60. doi: 10.1038/nm.3384. Epub 2013 Nov 3. Nat Med. 2013. PMID: 24185693 Free PMC article.
[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates].
Schaeffer C, Cattaneo A, Trudu M, Santambrogio S, Bernascone I, Giachino D, Caridi G, Campo A, Murtas C, Benoni S, Izzi C, De Marchi M, Amoroso A, Ghiggeri GM, Scolari F, Bachi A, Rampoldi L. Schaeffer C, et al. Among authors: trudu m. G Ital Nefrol. 2012 Mar-Apr;29(2):137-41. G Ital Nefrol. 2012. PMID: 22538938 Italian. No abstract available.
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC; Maestrini E, Seri M, Romeo G. Bonora E, et al. Among authors: trudu m. EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. EMBO Mol Med. 2014. PMID: 24737869 Free PMC article.
A bird's-eye view of Italian genomic variation through whole-genome sequencing.
Cocca M, Barbieri C, Concas MP, Robino A, Brumat M, Gandin I, Trudu M, Sala CF, Vuckovic D, Girotto G, Matullo G, Polasek O, Kolčić I, Gasparini P, Soranzo N, Toniolo D, Mezzavilla M. Cocca M, et al. Among authors: trudu m. Eur J Hum Genet. 2020 Apr;28(4):435-444. doi: 10.1038/s41431-019-0551-x. Epub 2019 Nov 29. Eur J Hum Genet. 2020. PMID: 31784700 Free PMC article.
12 results