RAMPOLDI, LUCA
RAMPOLDI, LUCA
Facoltà di Medicina e Chirurgia
A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011
1998-01-01 Bortoluzzi, S; Rampoldi, L; Simionati, B; Zimbello, R; Barbon, A; D'Alessi, F; Tiso, N; Pallavicini, A; Toppo, S; Cannata, N; Valle, G; Lanfranchi, C; Danieli, Ga
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010
2001-01-01 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; Carre, S; Alonso, E; Manfredi, M; Nemeth, Ah; Monaco, Ap
A novel truncated form of eNOS associates with altered vascular function
2014-01-01 Galluccio, E; Cassina, L; Russo, I; Gelmini, F; Setola, E; Rampoldi, L; Citterio, L; Rossodivita, A; Kamami, M; Colombo, A; Alfieri, Ottavio; Carini, M; Bosi, Emanuele; Trovati, M; Piatti, P; Monti, Ld; Casari, GIORGIO NEVIO
A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing
2014-01-01 Glaudemans, B; Terryn, S; Golz, N; Brunati, M; Cattaneo, A; Bachi, A; Al-Qusairi, L; Ziegler, U; Staub, O; Rampoldi, L; Devuyst, O
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine
2003-01-01 Casari, G; De Fusco, M; Aridon, P; Silvestri, L; Atorino, L; Rampoldi, L; Ballabio, A; Marconi, R
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
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure
2010-01-01 Bernascone, I; Janas, S; Ikehata, M; Trudu, M; Corbelli, A; Schaeffer, C; Rastaldi, Mp; Devuyst, O; Rampoldi, L
Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner
2011-01-01 Mutig, K; Kahl, T; Saritas, T; Godes, M; Persson, P; Bates, J; Raffi, H; Rampoldi, L; Uchida, S; Hille, C; Dosche, C; Kumar, S; Castaneda-Bueno, M; Gamba, G; Bachmann, S
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease
2023-01-01 Schiano, G.; Lake, J.; Mariniello, M.; Schaeffer, C.; Harvent, M.; Rampoldi, L.; Olinger, E.; Devuyst, O.
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics
2003-01-01 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, GIORGIO NEVIO
Allelism of medullary cystic disease, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease caused by delayed uromodulin trafficking to plasma membrane and endoplasmic reticulum retention
2006-01-01 Rampoldi, L; Lamorte, G; Bernascone, I; Caridi, G; Santon, D; Boaretto, F; Tardanico, R; Dagnino, M; Colussi, G; Scolari, F; Ghiggeri, Gm; Amoroso, A; Casari, GIORGIO NEVIO; Mazza, Davide
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease
2022-01-01 Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A E; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G; Kistler, Andreas D; Wilson, Ian J; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J; Köttgen, Anna; Conlon, Peter J; Wiesener, Michael; Sayer, John A; Rampoldi, Luca; Devuyst, Olivier
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
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly
2009-01-01 Schaeffer, C; Santambrogio, S; Perucca, S; Casari, GIORGIO NEVIO; Rampoldi, L.
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
Autosomal dominant tubulointerstitial kidney disease
2019-01-01 Devuyst, O; Olinger, E; Weber, S; Eckardt, Ku; Kmoch, S; Rampoldi, L; Bleyer, Aj
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein
2019-01-01 Schaeffer, C; Izzi, C; Vettori, A; Pasqualetto, E; Cittaro, D; Lazarevic, D; Caridi, G; Gnutti, B; Mazza, C; Jovine, L; Scolari, F; Rampoldi, L
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD
2022-01-01 Econimo, Laura; Schaeffer, Celine; Zeni, Letizia; Cortinovis, Roberta; Alberici, Federico; Rampoldi, Luca; Scolari, Francesco; Izzi, Claudia
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report
2015-01-01 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
Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein
2009-01-01 Saritas, T; Mutig, K; Godes, M; Kahl, T; Persson, P; Boehlick, A; Bates, J; Rampoldi, L; Uchida, S; Takahashi, N; Kumar, S; Bachmann, S
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011 | 1-gen-1998 | Bortoluzzi, S; Rampoldi, L; Simionati, B; Zimbello, R; Barbon, A; D'Alessi, F; Tiso, N; Pallavicini, A; Toppo, S; Cannata, N; Valle, G; Lanfranchi, C; Danieli, Ga | |
| A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010 | 1-gen-2001 | 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; Carre, S; Alonso, E; Manfredi, M; Nemeth, Ah; Monaco, Ap | |
| A novel truncated form of eNOS associates with altered vascular function | 1-gen-2014 | Galluccio, E; Cassina, L; Russo, I; Gelmini, F; Setola, E; Rampoldi, L; Citterio, L; Rossodivita, A; Kamami, M; Colombo, A; Alfieri, Ottavio; Carini, M; Bosi, Emanuele; Trovati, M; Piatti, P; Monti, Ld; Casari, GIORGIO NEVIO | |
| A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing | 1-gen-2014 | Glaudemans, B; Terryn, S; Golz, N; Brunati, M; Cattaneo, A; Bachi, A; Al-Qusairi, L; Ziegler, U; Staub, O; Rampoldi, L; Devuyst, O | |
| A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine | 1-gen-2003 | Casari, G; De Fusco, M; Aridon, P; Silvestri, L; Atorino, L; Rampoldi, L; Ballabio, A; Marconi, R | |
| 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 | |
| A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure | 1-gen-2010 | Bernascone, I; Janas, S; Ikehata, M; Trudu, M; Corbelli, A; Schaeffer, C; Rastaldi, Mp; Devuyst, O; Rampoldi, L | |
| Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner | 1-gen-2011 | Mutig, K; Kahl, T; Saritas, T; Godes, M; Persson, P; Bates, J; Raffi, H; Rampoldi, L; Uchida, S; Hille, C; Dosche, C; Kumar, S; Castaneda-Bueno, M; Gamba, G; Bachmann, S | |
| Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease | 1-gen-2023 | Schiano, G.; Lake, J.; Mariniello, M.; Schaeffer, C.; Harvent, M.; Rampoldi, L.; Olinger, E.; Devuyst, O. | |
| Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics | 1-gen-2003 | 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, GIORGIO NEVIO | |
| Allelism of medullary cystic disease, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease caused by delayed uromodulin trafficking to plasma membrane and endoplasmic reticulum retention | 1-gen-2006 | Rampoldi, L; Lamorte, G; Bernascone, I; Caridi, G; Santon, D; Boaretto, F; Tardanico, R; Dagnino, M; Colussi, G; Scolari, F; Ghiggeri, Gm; Amoroso, A; Casari, GIORGIO NEVIO; Mazza, Davide | |
| An intermediate-effect size variant in UMOD confers risk for chronic kidney disease | 1-gen-2022 | Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A E; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G; Kistler, Andreas D; Wilson, Ian J; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J; Köttgen, Anna; Conlon, Peter J; Wiesener, Michael; Sayer, John A; Rampoldi, Luca; Devuyst, Olivier | |
| 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 | |
| Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly | 1-gen-2009 | Schaeffer, C; Santambrogio, S; Perucca, S; Casari, GIORGIO NEVIO; Rampoldi, L. | |
| 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 | |
| Autosomal dominant tubulointerstitial kidney disease | 1-gen-2019 | Devuyst, O; Olinger, E; Weber, S; Eckardt, Ku; Kmoch, S; Rampoldi, L; Bleyer, Aj | |
| Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein | 1-gen-2019 | Schaeffer, C; Izzi, C; Vettori, A; Pasqualetto, E; Cittaro, D; Lazarevic, D; Caridi, G; Gnutti, B; Mazza, C; Jovine, L; Scolari, F; Rampoldi, L | |
| Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD | 1-gen-2022 | Econimo, Laura; Schaeffer, Celine; Zeni, Letizia; Cortinovis, Roberta; Alberici, Federico; Rampoldi, Luca; Scolari, Francesco; Izzi, Claudia | |
| Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report | 1-gen-2015 | 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 | |
| Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein | 1-gen-2009 | Saritas, T; Mutig, K; Godes, M; Kahl, T; Persson, P; Boehlick, A; Bates, J; Rampoldi, L; Uchida, S; Takahashi, N; Kumar, S; Bachmann, S |