Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro
2020-01-01 Van, Jad; Clotet-Freixas, S; Zhou, J; Batruch, I; Sun, C; Glogauer, M; Rampoldi, L; Elia, Y; Mahmud, Fh; Sochett, E; Diamandis, Ep; Scholey, Jw; Konvalinka, A
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
2003-01-01 Bohlega, S; Al-Jishi, A; Dobson-Stone, C; Rampoldi, L; Saha, P; Murad, H; Kareem, A; Roberts, G; Monaco, Ap
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations
2017-01-01 Trudu, M; Schaeffer, C; Riba, M; Ikehata, M; Brambilla, P; Messa, P; Martinelli-Boneschi, F; Rastaldi, Mp; Rampoldi, L
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
Different molecular consequences of frameshift mutations in the ANTXR2 gene
2013-01-01 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
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy
2004-01-01 Tinschert, S; Ruf, N; Bernascone, I; Sacherer, K; Lamorte, G; Neumayer, Hh; Nurnberg, P; Luft, Fc; Rampoldi, L
Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia HNF1B nephropathy
2014-01-01 Izzi, C; Dallera, N; Manenti, C; Caridi, G; Ghiggeri, G; Rampoldi, L; Scolari, F
Protein trafficking defects in inherited kidney diseases
2014-01-01 Schaeffer, C; Creatore, A; Rampoldi, L
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response
2017-01-01 Schaeffer, C; Merella, S; Pasqualetto, E; Lazarevic, D; Rampoldi, L
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes
2006-01-01 Walker, Rh; Danek, A; Dobson-Stone, C; Guerrini, R; Jung, Hh; Lafontaine, Al; Rampoldi, L; Tison, F; Andermann, E
Fine mapping of five human skeletal muscle genes: Alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-c fast RID E-2182-2011
1997-01-01 Tiso, N; Rampoldi, L; Pallavicini, A; Zimbello, R; Pandolfo, D; Valle, G; Lanfranchi, G; Danieli, Ga
Uromodulin: from physiology to rare and complex kidney disorders
2017-01-01 Devuyst, O; Olinger, E; Rampoldi, L
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
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
2014-01-01 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; Maestrini, E; Seri, M; Romeo, G
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis
2014-01-01 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
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease
2020-01-01 Izzi, C; Dordoni, C; Econimo, L; Delbarba, E; Grati, Fr; Martin, E; Mazza, C; Savoldi, G; Rampoldi, L; Alberici, F; Scolari, F
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
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
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
2002-01-01 Dobson-Stone, C.; Danek, A.; Rampoldi, L.; Hardie, R. J.; Chalmers, R. M.; Wood, N. W.; Bohlega, S.; Dotti, M. T.; Federico, A.; Shizuka, M.; Tanaka, M.; Watanabe, M.; Ikeda, Y.; Brin, M.; Goldfarb, L. G.; Karp, B. I.; Mohiddin, S.; Fananapazir, L.; Storch, A.; Fryer, A. E.; Maddison, P.; Sibon, I.; Trevisol-Bittencourt, P. C.; Singer, C.; Caballero, I. R.; Aasly, J. O.; Schmierer, K.; Dengler, R.; Hiersemenzel, L. -P.; Zeviani, M.; Meiner, V.; Lossos, A.; Johnson, S.; Mercado, F. C.; Sorretino, G.; Dupre, N.; Rouleau, G. A.; Volkmann, J.; Arpa, J.; Lees, A.; Geraud, G.; Chouinard, S.; Nemeth, A.; Monaco, A. P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro | 1-gen-2020 | Van, Jad; Clotet-Freixas, S; Zhou, J; Batruch, I; Sun, C; Glogauer, M; Rampoldi, L; Elia, Y; Mahmud, Fh; Sochett, E; Diamandis, Ep; Scholey, Jw; Konvalinka, A | |
| Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula | 1-gen-2003 | Bohlega, S; Al-Jishi, A; Dobson-Stone, C; Rampoldi, L; Saha, P; Murad, H; Kareem, A; Roberts, G; Monaco, Ap | |
| Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations | 1-gen-2017 | Trudu, M; Schaeffer, C; Riba, M; Ikehata, M; Brambilla, P; Messa, P; Martinelli-Boneschi, F; Rastaldi, Mp; Rampoldi, L | |
| 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 | |
| Different molecular consequences of frameshift mutations in the ANTXR2 gene | 1-gen-2013 | 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 | |
| Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy | 1-gen-2004 | Tinschert, S; Ruf, N; Bernascone, I; Sacherer, K; Lamorte, G; Neumayer, Hh; Nurnberg, P; Luft, Fc; Rampoldi, L | |
| Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia HNF1B nephropathy | 1-gen-2014 | Izzi, C; Dallera, N; Manenti, C; Caridi, G; Ghiggeri, G; Rampoldi, L; Scolari, F | |
| Protein trafficking defects in inherited kidney diseases | 1-gen-2014 | Schaeffer, C; Creatore, A; Rampoldi, L | |
| Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response | 1-gen-2017 | Schaeffer, C; Merella, S; Pasqualetto, E; Lazarevic, D; Rampoldi, L | |
| Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes | 1-gen-2006 | Walker, Rh; Danek, A; Dobson-Stone, C; Guerrini, R; Jung, Hh; Lafontaine, Al; Rampoldi, L; Tison, F; Andermann, E | |
| Fine mapping of five human skeletal muscle genes: Alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-c fast RID E-2182-2011 | 1-gen-1997 | Tiso, N; Rampoldi, L; Pallavicini, A; Zimbello, R; Pandolfo, D; Valle, G; Lanfranchi, G; Danieli, Ga | |
| Uromodulin: from physiology to rare and complex kidney disorders | 1-gen-2017 | Devuyst, O; Olinger, E; Rampoldi, L | |
| 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 | |
| Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients | 1-gen-2014 | 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; Maestrini, E; Seri, M; Romeo, G | |
| Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis | 1-gen-2014 | 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 | |
| Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease | 1-gen-2020 | Izzi, C; Dordoni, C; Econimo, L; Delbarba, E; Grati, Fr; Martin, E; Mazza, C; Savoldi, G; Rampoldi, L; Alberici, F; Scolari, F | |
| 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 | |
| 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 | |
| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis | 1-gen-2002 | Dobson-Stone, C.; Danek, A.; Rampoldi, L.; Hardie, R. J.; Chalmers, R. M.; Wood, N. W.; Bohlega, S.; Dotti, M. T.; Federico, A.; Shizuka, M.; Tanaka, M.; Watanabe, M.; Ikeda, Y.; Brin, M.; Goldfarb, L. G.; Karp, B. I.; Mohiddin, S.; Fananapazir, L.; Storch, A.; Fryer, A. E.; Maddison, P.; Sibon, I.; Trevisol-Bittencourt, P. C.; Singer, C.; Caballero, I. R.; Aasly, J. O.; Schmierer, K.; Dengler, R.; Hiersemenzel, L. -P.; Zeviani, M.; Meiner, V.; Lossos, A.; Johnson, S.; Mercado, F. C.; Sorretino, G.; Dupre, N.; Rouleau, G. A.; Volkmann, J.; Arpa, J.; Lees, A.; Geraud, G.; Chouinard, S.; Nemeth, A.; Monaco, A. P. |
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