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Items: 1 to 50 of 54

1.

Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1).

Tavernier Q, Bennana E, Poindessous V, Schaeffer C, Rampoldi L, Pietrancosta N, Pallet N.

Cell Cycle. 2018;17(15):1901-1916. doi: 10.1080/15384101.2018.1506655. Epub 2018 Sep 5.

PMID:
30109813
2.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.

Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5.

3.

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.

Trudu M, Schaeffer C, Riba M, Ikehata M, Brambilla P, Messa P, Martinelli-Boneschi F, Rastaldi MP, Rampoldi L.

Sci Rep. 2017 Aug 7;7(1):7383. doi: 10.1038/s41598-017-07804-6.

4.

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O, Olinger E, Rampoldi L.

Nat Rev Nephrol. 2017 Sep;13(9):525-544. doi: 10.1038/nrneph.2017.101. Epub 2017 Aug 7. Review.

PMID:
28781372
5.

The Association of Uromodulin Genotype with Renal Cancer Aggressiveness.

Trevisani F, Larcher A, Cinque A, Capitanio U, Ripa F, Vago R, Bettiga A, Benigni F, Carenzi C, Muttin F, Bertini R, Briganti A, Salonia A, Rampoldi L, Montorsi F.

Eur Urol Focus. 2017 May 12. pii: S2405-4569(17)30115-3. doi: 10.1016/j.euf.2017.04.009. [Epub ahead of print]

PMID:
28753889
6.

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

Schaeffer C, Merella S, Pasqualetto E, Lazarevic D, Rampoldi L.

PLoS One. 2017 Apr 24;12(4):e0175970. doi: 10.1371/journal.pone.0175970. eCollection 2017.

7.

The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.

Ghirotto S, Tassi F, Barbujani G, Pattini L, Hayward C, Vollenweider P, Bochud M, Rampoldi L, Devuyst O.

J Am Soc Nephrol. 2016 Oct;27(10):2983-2996. Epub 2016 Mar 10.

8.

A structured interdomain linker directs self-polymerization of human uromodulin.

Bokhove M, Nishimura K, Brunati M, Han L, de Sanctis D, Rampoldi L, Jovine L.

Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):1552-7. doi: 10.1073/pnas.1519803113. Epub 2016 Jan 25.

9.

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.

Elife. 2015 Dec 17;4:e08887. doi: 10.7554/eLife.08887.

10.

[Kidney diseases associated with uromodulin (Tamm-Horsfall protein)].

Brunati M, Rampoldi L.

G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.10. Italian.

PMID:
26479057
11.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
12.

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.

Izzi C, Dallera N, Manenti C, Caridi G, Ghiggeri G, Rampoldi L, Scolari F.

Kidney Int. 2014 Oct;86(4):863-4. doi: 10.1038/ki.2013.445. No abstract available.

13.

Protein trafficking defects in inherited kidney diseases.

Schaeffer C, Creatore A, Rampoldi L.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv33-44. doi: 10.1093/ndt/gfu231. Review.

PMID:
25165184
14.

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.

EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. Erratum in: EMBO Mol Med. 2014 Dec;6(12):1639.

15.

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.

J Am Soc Nephrol. 2014 Aug;25(8):1869-82. doi: 10.1681/ASN.2013070781. Epub 2014 Feb 27.

16.

Chorea-Acanthocytosis.

Velayos Baeza A, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Jun 14 [updated 2014 Jan 30].

17.

A novel truncated form of eNOS associates with altered vascular function.

Galluccio E, Cassina L, Russo I, Gelmini F, Setola E, Rampoldi L, Citterio L, Rossodivita A, Kamami M, Colombo A, Alfieri O, Carini M, Bosi E, Trovati M, Piatti P, Monti LD, Casari G.

Cardiovasc Res. 2014 Mar 1;101(3):492-502. doi: 10.1093/cvr/cvt267. Epub 2013 Dec 3.

PMID:
24302629
18.

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.

Nat Med. 2013 Dec;19(12):1655-60. doi: 10.1038/nm.3384. Epub 2013 Nov 3.

19.

The effect of common uromodulin variants on urinary protein level and gene transcription.

Rampoldi L, Köttgen A, Devuyst O.

Kidney Int. 2013 Aug;84(2):410-1. doi: 10.1038/ki.2013.162. No abstract available.

20.

A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing.

Glaudemans B, Terryn S, Gölz N, Brunati M, Cattaneo A, Bachi A, Al-Qusairi L, Ziegler U, Staub O, Rampoldi L, Devuyst O.

Pflugers Arch. 2014 Feb;466(2):343-56. doi: 10.1007/s00424-013-1321-1. Epub 2013 Jul 26.

21.

Different molecular consequences of frameshift mutations in the ANTXR2 gene.

Rampoldi L.

Hum Mutat. 2013 Jul;34(7):v. doi: 10.1002/humu.22190. No abstract available.

PMID:
23780735
22.

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.

PLoS One. 2012;7(5):e38311. doi: 10.1371/journal.pone.0038311. Epub 2012 May 31.

23.

[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.

G Ital Nefrol. 2012 Mar-Apr;29(2):137-41. Italian. No abstract available.

PMID:
22538938
24.

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.

Kidney Int. 2012 Apr;81(8):769-78. doi: 10.1038/ki.2011.456. Epub 2012 Jan 11.

25.

Activation of the bumetanide-sensitive Na+,K+,2Cl- cotransporter (NKCC2) is facilitated by Tamm-Horsfall protein in a chloride-sensitive manner.

Mutig K, Kahl T, Saritas T, Godes M, Persson P, Bates J, Raffi H, Rampoldi L, Uchida S, Hille C, Dosche C, Kumar S, Castañeda-Bueno M, Gamba G, Bachmann S.

J Biol Chem. 2011 Aug 26;286(34):30200-10. doi: 10.1074/jbc.M111.222968. Epub 2011 Jul 7.

26.

The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O.

Kidney Int. 2011 Aug;80(4):338-47. doi: 10.1038/ki.2011.134. Epub 2011 Jun 8. Review.

27.

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Bernascone I, Janas S, Ikehata M, Trudu M, Corbelli A, Schaeffer C, Rastaldi MP, Devuyst O, Rampoldi L.

Hum Mol Genet. 2010 Aug 1;19(15):2998-3010. doi: 10.1093/hmg/ddq205. Epub 2010 May 14.

PMID:
20472742
28.

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT.

Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18.

29.

EUNEFRON, the European Network for the Study of Orphan Nephropathies.

Devuyst O, Meij I, Jeunemaitre X, Ronco P, Antignac C, Christensen EI, Knoers NV, Levtchenko EN, Deen PM, Müller D, Wagner CA, Rampoldi L, van't Hoff WG; EUNEFRON consortium.

Nephrol Dial Transplant. 2009 Jul;24(7):2011-5. doi: 10.1093/ndt/gfp095. Epub 2009 Mar 4. No abstract available.

30.

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

Manfredi I, Zani AD, Rampoldi L, Pegorini S, Bernascone I, Moretti M, Gotti C, Croci L, Consalez GG, Ferini-Strambi L, Sala M, Pattini L, Casari G.

Hum Mol Genet. 2009 Mar 15;18(6):1075-88. doi: 10.1093/hmg/ddp004. Epub 2009 Jan 18.

PMID:
19153075
31.

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly.

Schaeffer C, Santambrogio S, Perucca S, Casari G, Rampoldi L.

Mol Biol Cell. 2009 Jan;20(2):589-99. doi: 10.1091/mbc.E08-08-0876. Epub 2008 Nov 12.

32.

Immature renal structures associated with a novel UMOD sequence variant.

Benetti E, Caridi G, Vella MD, Rampoldi L, Ghiggeri GM, Artifoni L, Murer L.

Am J Kidney Dis. 2009 Feb;53(2):327-31. doi: 10.1053/j.ajkd.2008.08.020. Epub 2008 Oct 31.

PMID:
18950917
33.

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage.

Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A, Rampoldi L.

Biochem Biophys Res Commun. 2008 Jun 6;370(3):410-3. doi: 10.1016/j.bbrc.2008.03.099. Epub 2008 Mar 28.

PMID:
18375198
34.

Neurologic phenotypes associated with acanthocytosis.

Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A.

Neurology. 2007 Jan 9;68(2):92-8. Review.

PMID:
17210889
35.

Defective intracellular trafficking of uromodulin mutant isoforms.

Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L.

Traffic. 2006 Nov;7(11):1567-79. Epub 2006 Sep 30.

36.

Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.

Walker RH, Danek A, Dobson-Stone C, Guerrini R, Jung HH, Lafontaine AL, Rampoldi L, Tison F, Andermann E.

Mov Disord. 2006 Nov;21(11):1794-805. Review.

PMID:
16958034
37.

Neuroacanthocytosis: new developments in a neglected group of dementing disorders.

Danek A, Jung HH, Melone MA, Rampoldi L, Broccoli V, Walker RH.

J Neurol Sci. 2005 Mar 15;229-230:171-86. Epub 2005 Jan 7. Review.

PMID:
15760637
38.

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

Tinschert S, Ruf N, Bernascone I, Sacherer K, Lamorte G, Neumayer HH, Nürnberg P, Luft FC, Rampoldi L.

Nephrol Dial Transplant. 2004 Dec;19(12):3150-4.

PMID:
15575003
39.

Uromodulin storage diseases: clinical aspects and mechanisms.

Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM.

Am J Kidney Dis. 2004 Dec;44(6):987-99. Review.

PMID:
15558519
40.

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

Gambaro G, Vezzoli G, Casari G, Rampoldi L, D'Angelo A, Borghi L.

Am J Kidney Dis. 2004 Dec;44(6):963-86. Review.

PMID:
15558518
41.

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G.

Hum Mol Genet. 2003 Dec 15;12(24):3369-84. Epub 2003 Oct 21.

PMID:
14570709
42.

Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.

Scolari F, Viola BF, Ghiggeri GM, Caridi G, Amoroso A, Rampoldi L, Casari G.

J Nephrol. 2003 May-Jun;16(3):321-8. Review.

PMID:
12832729
43.

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.

Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP.

Mov Disord. 2003 Apr;18(4):403-7.

PMID:
12671946
44.

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G.

Nat Genet. 2003 Feb;33(2):192-6. Epub 2003 Jan 21.

PMID:
12539047
45.

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP.

Eur J Hum Genet. 2002 Nov;10(11):773-81.

46.

Clinical features and molecular bases of neuroacanthocytosis.

Rampoldi L, Danek A, Monaco AP.

J Mol Med (Berl). 2002 Aug;80(8):475-91. Epub 2002 Jun 18. Review.

PMID:
12185448
47.

McLeod neuroacanthocytosis: genotype and phenotype.

Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker RH, Daniels G, Monaco AP.

Ann Neurol. 2001 Dec;50(6):755-64.

PMID:
11761473
48.

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP.

Nat Genet. 2001 Jun;28(2):119-20.

PMID:
11381253
49.

Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity.

Mostacciuolo ML, Rampoldi L, Righetti E, Vazza G, Schiavon F, Angelini C.

Neuromuscul Disord. 2000 Oct;10(7):497-502.

PMID:
10996781
50.

A comprehensive, high-resolution genomic transcript map of human skeletal muscle.

Bortoluzzi S, Rampoldi L, Simionati B, Zimbello R, Barbon A, d'Alessi F, Tiso N, Pallavicini A, Toppo S, Cannata N, Valle G, Lanfranchi G, Danieli GA.

Genome Res. 1998 Aug;8(8):817-25.

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