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Medullary sponge kidney: state of the art.
Fabris A, Anglani F, Lupo A, Gambaro G. Fabris A, et al. Nephrol Dial Transplant. 2013 May;28(5):1111-9. doi: 10.1093/ndt/gfs505. Epub 2012 Dec 9. Nephrol Dial Transplant. 2013. PMID: 23229933 Review.
Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease.
Fabris A, Bruschi M, Santucci L, Candiano G, Granata S, Dalla Gassa A, Antonucci N, Petretto A, Ghiggeri GM, Gambaro G, Lupo A, Zaza G. Fabris A, et al. Kidney Int. 2017 Feb;91(2):459-468. doi: 10.1016/j.kint.2016.09.035. Epub 2016 Dec 1. Kidney Int. 2017. PMID: 27914711
New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.
Ria P, Fabris A, Dalla Gassa A, Zaza G, Lupo A, Gambaro G. Ria P, et al. Among authors: fabris a. Urolithiasis. 2017 Aug;45(4):359-362. doi: 10.1007/s00240-016-0913-6. Epub 2016 Aug 29. Urolithiasis. 2017. PMID: 27573101
Spontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation.
Mezzabotta F, Cristofaro R, Ceol M, Del Prete D, Priante G, Familiari A, Fabris A, D'Angelo A, Gambaro G, Anglani F. Mezzabotta F, et al. Among authors: fabris a. J Cell Mol Med. 2015 Apr;19(4):889-902. doi: 10.1111/jcmm.12514. Epub 2015 Feb 18. J Cell Mol Med. 2015. PMID: 25692823 Free PMC article.
Medullary sponge kidney.
Gambaro G, Danza FM, Fabris A. Gambaro G, et al. Among authors: fabris a. Curr Opin Nephrol Hypertens. 2013 Jul;22(4):421-6. doi: 10.1097/MNH.0b013e3283622b86. Curr Opin Nephrol Hypertens. 2013. PMID: 23680648 Review.
[Rare genomic variants and susceptibility to multifactorial diseases. The example of medullary sponge kidney].
Anglani F, Fabris A, Torregrossa R, Cristofaro R, Gambaro G, D'Angelo A. Anglani F, et al. Among authors: fabris a. G Ital Nefrol. 2011 May-Jun;28(3):246-8. G Ital Nefrol. 2011. PMID: 21626485 Italian. No abstract available.
Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity.
Fabris A, Lupo A, Ferraro PM, Anglani F, Pei Y, Danza FM, Gambaro G. Fabris A, et al. Kidney Int. 2013 Feb;83(2):272-7. doi: 10.1038/ki.2012.378. Epub 2012 Dec 5. Kidney Int. 2013. PMID: 23223172
The origin of nephrocalcinosis, Randall's plaque and renal stones: a cell biology viewpoint.
Gambaro G, Abaterusso C, Fabris A, Ruggera L, Zattoni F, Del Prete D, D'Angelo A, Anglani F. Gambaro G, et al. Among authors: fabris a. Arch Ital Urol Androl. 2009 Sep;81(3):166-70. Arch Ital Urol Androl. 2009. PMID: 19911679 Review.
Long-term treatment with potassium citrate and renal stones in medullary sponge kidney.
Fabris A, Lupo A, Bernich P, Abaterusso C, Marchionna N, Nouvenne A, Gambaro G. Fabris A, et al. Clin J Am Soc Nephrol. 2010 Sep;5(9):1663-8. doi: 10.2215/CJN.00220110. Epub 2010 Jun 24. Clin J Am Soc Nephrol. 2010. PMID: 20576821 Free PMC article.
Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis.
Vezzoli G, Terranegra A, Aloia A, Arcidiacono T, Milanesi L, Mosca E, Mingione A, Spotti D, Cusi D, Hou J, Hendy GN, Soldati L; GENIAL network (Genetics and Environment in Nephrolithiasis Italian Alliance), Paloschi V, Dogliotti E, Brasacchio C, Dell'Antonio G, Montorsi F, Bertini R, Bellinzoni P, Guazzoni G, Borghi L, Guerra A, Allegri F, Ticinesi A, Meschi T, Nouvenne A, Lupo A, Fabris A, Gambaro G, Strazzullo P, Rendina D, De Filippo G, Brandi ML, Croppi E, Cianferotti L, Trinchieri A, Caudarella R, Cupisti A, Anglani F, Del Prete D. Vezzoli G, et al. Among authors: fabris a. J Clin Endocrinol Metab. 2013 Sep;98(9):3839-47. doi: 10.1210/jc.2013-1834. Epub 2013 Jul 17. J Clin Endocrinol Metab. 2013. PMID: 23864702 Free PMC article.
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