Mechanistic Interactions of Uromodulin with the Thick Ascending Limb: Perspectives in Physiology and Hypertension
2021-01-01 Boder, P; Mary, S; Mark, Pb; Leiper, J; Dominiczak, Af; Padmanabhan, S; Rampoldi, L; Delles, C
Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1
2020-01-01 Olinger, E; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, Dg; Gale, Dp; Goffin, E; Hodanova, K; Hyunh-Do, U; Kistler, Ad; Morelle, J; Papagregoriou, G; Pirson, Y; Sandford, R; Sayer, Ja; Torra, R; Venzin, C; Venzin, R; Vogt, B; Živná, M; Greka, A; Dahan, K; Rampoldi, L; Kmoch, S; Bleyer Aj, Sr; Devuyst, O
Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer
2020-01-01 Stsiapanava, A; Xu, C; Brunati, M; Schaeffer, C; Zamora-Caballero, S; Algarra, B; Han, L; Carroni, M; Yasumasu, S; Rampoldi, L; Wu, B; Jovine, L
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution
2016-01-01 Ghirotto, S; Tassi, F; Barbujani, G; Pattini, L; Hayward, C; Vollenweider, P; Bochud, M; Rampoldi, L; Devuyst, O
Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1)
2018-01-01 Tavernier, Q; Bennana, E; Poindessous, V; Schaeffer, C; Rampoldi, L; Pietrancosta, N; Pallet, N
Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5 RID G-8211-2011 RID E-2182-2011
1997-01-01 Rampoldi, L; Zimbello, R; Bortoluzzi, S; Tiso, N; Valle, G; Lanfranchi, G; Danieli, Ga
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease
2011-01-01 Rampoldi, L; Scolari, F; Amoroso, A; Ghiggeri, G; Devuyst, O
Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing
2012-01-01 Kottgen, A; Yang, Q; Shimmin, Lc; Tin, A; Schaeffer, C; Coresh, J; Liu, X; Rampoldi, L; Hwang, Sj; Boerwinkle, E; Hixson, Je; Kao, Whl; Fox, Cs
EUNEFRON, the European Network for the Study of Orphan Nephropathies
2009-01-01 Devuyst, O; Meij, I; Jeunemaitre, X; Ronco, P; Antignac, C; Christensen, Ei; Knoers, Nv; Levtchenko, En; Deen, Pm; Muller, D; Wagner, Ca; Rampoldi, L; van't Hoff, Wg
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
2010-01-01 Zaucke, F; Boehnlein, Jm; Steffens, S; Polishchuk, Rs; Rampoldi, L; Fischer, A; Pasch, A; Boehm, Cwa; Baasner, A; Attanasio, M; Hoppe, B; Hopfer, H; Beck, Bb; Sayer, Ja; Hildebrandt, F; Wolf, Mtf
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates
2012-01-01 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
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity
2000-01-01 Mostacciuolo, Ml; Rampoldi, L; Righetti, E; Vazza, G; Schiavon, F; Angelini, C
Autosomal dominant tubulointerstitial kidney disease
2019-01-01 Devuyst, O; Olinger, E; Weber, S; Eckardt, Ku; Kmoch, S; Rampoldi, L; Bleyer, Aj
Identification of genetic factors for alachlor tolerance in maize by molecular markers analysis
1996-01-01 Sarigorla, M; Rampoldi, L; Binelli, G; Frova, C; Pe, Me
Neuroacanthocytosis: new developments in a neglected group of dementing disorders
2005-01-01 Danek, A; Jung, Hh; Melone, Mab; Rampoldi, L; Broccoli, V; Walker, Rh
McLeod neuroacanthocytosis: Genotype and phenotype
2001-01-01 Danek, A; Rubio, Jp; Rampoldi, L; Ho, Mf; Dobson-Stone, C; Tison, F; Symmans, Wa; Oechsner, M; Kalckreuth, W; Watt, Jm; Corbett, Aj; Hamdalla, Hhm; Marshall, Ag; Sutton, I; Dotti, Mt; Malandrini, A; Walker, Rh; Daniels, G; Monaco, Ap
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes
2020-01-01 Živná, M; Kidd, K; Zaidan, M; Vyleťal, P; Barešová, V; Hodaňová, K; Sovová, J; Hartmannová, H; Votruba, M; Trešlová, H; Jedličková, I; Sikora, J; Hůlková, H; Robins, V; Hnízda, A; Živný, J; Papagregoriou, G; Mesnard, L; Beck, Bb; Wenzel, A; Tory, K; Häeffner, K; Wolf, Mtf; Bleyer, Me; Sayer, Ja; Ong, Acm; Balogh, L; Jakubowska, A; Łaszkiewicz, A; Clissold, R; Shaw-Smith, C; Munshi, R; Haws, Rm; Izzi, C; Capelli, I; Santostefano, M; Graziano, C; Scolari, F; Sussman, A; Trachtman, H; Decramer, S; Matignon, M; Grimbert, P; Shoemaker, Lr; Stavrou, C; Abdelwahed, M; Belghith, N; Sinclair, M; Claes, K; Kopel, T; Moe, S; Deltas, C; Knebelmann, B; Rampoldi, L; Kmoch, S; Bleyer, Aj
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage
2008-01-01 Santambrogio, S; Cattaneo, A; Bernascone, I; Schwend, T; Jovine, L; Bachi, A; Rampoldi, L
A structured interdomain linker directs self-polymerization of human uromodulin
2016-01-01 Bokhove, M; Nishimura, K; Brunati, M; Han, L; de Sanctis, D; Rampoldi, L; Jovine, L
Clinical features and molecular bases of neuroacanthocytosis
2002-01-01 Rampoldi, L; Danek, A; Monaco, Ap
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mechanistic Interactions of Uromodulin with the Thick Ascending Limb: Perspectives in Physiology and Hypertension | 1-gen-2021 | Boder, P; Mary, S; Mark, Pb; Leiper, J; Dominiczak, Af; Padmanabhan, S; Rampoldi, L; Delles, C | |
| Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1 | 1-gen-2020 | Olinger, E; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, Dg; Gale, Dp; Goffin, E; Hodanova, K; Hyunh-Do, U; Kistler, Ad; Morelle, J; Papagregoriou, G; Pirson, Y; Sandford, R; Sayer, Ja; Torra, R; Venzin, C; Venzin, R; Vogt, B; Živná, M; Greka, A; Dahan, K; Rampoldi, L; Kmoch, S; Bleyer Aj, Sr; Devuyst, O | |
| Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer | 1-gen-2020 | Stsiapanava, A; Xu, C; Brunati, M; Schaeffer, C; Zamora-Caballero, S; Algarra, B; Han, L; Carroni, M; Yasumasu, S; Rampoldi, L; Wu, B; Jovine, L | |
| The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution | 1-gen-2016 | Ghirotto, S; Tassi, F; Barbujani, G; Pattini, L; Hayward, C; Vollenweider, P; Bochud, M; Rampoldi, L; Devuyst, O | |
| Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1) | 1-gen-2018 | Tavernier, Q; Bennana, E; Poindessous, V; Schaeffer, C; Rampoldi, L; Pietrancosta, N; Pallet, N | |
| Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5 RID G-8211-2011 RID E-2182-2011 | 1-gen-1997 | Rampoldi, L; Zimbello, R; Bortoluzzi, S; Tiso, N; Valle, G; Lanfranchi, G; Danieli, Ga | |
| The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease | 1-gen-2011 | Rampoldi, L; Scolari, F; Amoroso, A; Ghiggeri, G; Devuyst, O | |
| Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing | 1-gen-2012 | Kottgen, A; Yang, Q; Shimmin, Lc; Tin, A; Schaeffer, C; Coresh, J; Liu, X; Rampoldi, L; Hwang, Sj; Boerwinkle, E; Hixson, Je; Kao, Whl; Fox, Cs | |
| EUNEFRON, the European Network for the Study of Orphan Nephropathies | 1-gen-2009 | Devuyst, O; Meij, I; Jeunemaitre, X; Ronco, P; Antignac, C; Christensen, Ei; Knoers, Nv; Levtchenko, En; Deen, Pm; Muller, D; Wagner, Ca; Rampoldi, L; van't Hoff, Wg | |
| Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression | 1-gen-2010 | Zaucke, F; Boehnlein, Jm; Steffens, S; Polishchuk, Rs; Rampoldi, L; Fischer, A; Pasch, A; Boehm, Cwa; Baasner, A; Attanasio, M; Hoppe, B; Hopfer, H; Beck, Bb; Sayer, Ja; Hildebrandt, F; Wolf, Mtf | |
| Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates | 1-gen-2012 | 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 | |
| Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity | 1-gen-2000 | Mostacciuolo, Ml; Rampoldi, L; Righetti, E; Vazza, G; Schiavon, F; Angelini, C | |
| Autosomal dominant tubulointerstitial kidney disease | 1-gen-2019 | Devuyst, O; Olinger, E; Weber, S; Eckardt, Ku; Kmoch, S; Rampoldi, L; Bleyer, Aj | |
| Identification of genetic factors for alachlor tolerance in maize by molecular markers analysis | 1-gen-1996 | Sarigorla, M; Rampoldi, L; Binelli, G; Frova, C; Pe, Me | |
| Neuroacanthocytosis: new developments in a neglected group of dementing disorders | 1-gen-2005 | Danek, A; Jung, Hh; Melone, Mab; Rampoldi, L; Broccoli, V; Walker, Rh | |
| McLeod neuroacanthocytosis: Genotype and phenotype | 1-gen-2001 | Danek, A; Rubio, Jp; Rampoldi, L; Ho, Mf; Dobson-Stone, C; Tison, F; Symmans, Wa; Oechsner, M; Kalckreuth, W; Watt, Jm; Corbett, Aj; Hamdalla, Hhm; Marshall, Ag; Sutton, I; Dotti, Mt; Malandrini, A; Walker, Rh; Daniels, G; Monaco, Ap | |
| An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes | 1-gen-2020 | Živná, M; Kidd, K; Zaidan, M; Vyleťal, P; Barešová, V; Hodaňová, K; Sovová, J; Hartmannová, H; Votruba, M; Trešlová, H; Jedličková, I; Sikora, J; Hůlková, H; Robins, V; Hnízda, A; Živný, J; Papagregoriou, G; Mesnard, L; Beck, Bb; Wenzel, A; Tory, K; Häeffner, K; Wolf, Mtf; Bleyer, Me; Sayer, Ja; Ong, Acm; Balogh, L; Jakubowska, A; Łaszkiewicz, A; Clissold, R; Shaw-Smith, C; Munshi, R; Haws, Rm; Izzi, C; Capelli, I; Santostefano, M; Graziano, C; Scolari, F; Sussman, A; Trachtman, H; Decramer, S; Matignon, M; Grimbert, P; Shoemaker, Lr; Stavrou, C; Abdelwahed, M; Belghith, N; Sinclair, M; Claes, K; Kopel, T; Moe, S; Deltas, C; Knebelmann, B; Rampoldi, L; Kmoch, S; Bleyer, Aj | |
| Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage | 1-gen-2008 | Santambrogio, S; Cattaneo, A; Bernascone, I; Schwend, T; Jovine, L; Bachi, A; Rampoldi, L | |
| A structured interdomain linker directs self-polymerization of human uromodulin | 1-gen-2016 | Bokhove, M; Nishimura, K; Brunati, M; Han, L; de Sanctis, D; Rampoldi, L; Jovine, L | |
| Clinical features and molecular bases of neuroacanthocytosis | 1-gen-2002 | Rampoldi, L; Danek, A; Monaco, Ap |
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