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Page 1
Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.
Köttgen A, Yang Q, Shimmin LC, Tin A, Schaeffer C, Coresh J, Liu X, Rampoldi L, Hwang SJ, Boerwinkle E, Hixson JE, Kao WH, Fox CS. Köttgen A, et al. Among authors: rampoldi l. PLoS One. 2012;7(5):e38311. doi: 10.1371/journal.pone.0038311. Epub 2012 May 31. PLoS One. 2012. PMID: 22693617 Free PMC article.
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: rampoldi l. 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.
[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: rampoldi l. G Ital Nefrol. 2012 Mar-Apr;29(2):137-41. G Ital Nefrol. 2012. PMID: 22538938 Italian. No abstract available.
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. Among authors: rampoldi l. 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.
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
Olden M, Corre T, Hayward C, Toniolo D, Ulivi S, Gasparini P, Pistis G, Hwang SJ, Bergmann S, Campbell H, Cocca M, Gandin I, Girotto G, Glaudemans B, Hastie ND, Loffing J, Polasek O, Rampoldi L, Rudan I, Sala C, Traglia M, Vollenweider P, Vuckovic D, Youhanna S, Weber J, Wright AF, Kutalik Z, Bochud M, Fox CS, Devuyst O. Olden M, et al. Among authors: rampoldi l. J Am Soc Nephrol. 2014 Aug;25(8):1869-82. doi: 10.1681/ASN.2013070781. Epub 2014 Feb 27. J Am Soc Nephrol. 2014. PMID: 24578125 Free PMC article.
Protein trafficking defects in inherited kidney diseases.
Schaeffer C, Creatore A, Rampoldi L. Schaeffer C, et al. Among authors: rampoldi l. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv33-44. doi: 10.1093/ndt/gfu231. Nephrol Dial Transplant. 2014. PMID: 25165184 Review.
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.
Brunati M, Perucca S, Han L, Cattaneo A, Consolato F, Andolfo A, Schaeffer C, Olinger E, Peng J, Santambrogio S, Perrier R, Li S, Bokhove M, Bachi A, Hummler E, Devuyst O, Wu Q, Jovine L, Rampoldi L. Brunati M, et al. Among authors: rampoldi l. Elife. 2015 Dec 17;4:e08887. doi: 10.7554/eLife.08887. Elife. 2015. PMID: 26673890 Free PMC article.
76 results