Sfoglia per Rivista NATURE GENETICS
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2
2003-01-01 De Fusco, M; Marconi, R; Silvestri, L; Atorino, L; Rampoldi, L; Morgante, L; Ballabio, A; Aridon, P; Casari, GIORGIO NEVIO
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
1998-01-01 Coffey, Aj; Brooksbank, Ra; Brandau, O; Oohashi, T; Howell, Gr; Bye, Jm; Cahn, Ap; Durham, J; Heath, P; Wray, P; Pavitt, R; Wilkinson, J; Leversha, M; Huckle, E; Shaw-Smith, Cj; Dunham, A; Rhodes, S; Schuster, V; Porta, G; Yin, L; Serafini, P; Sylla, B; Zollo, M; Franco, B; Bolino, A; Seri, M; Lanyi, A; Davis, Jr; Webster, D; Harris, A; Lenoir, G; St Basile, Gd; Jones, A; Behloradsky, Bh; Achatz, H; Murken, J; Fassler, R; Sumegi, J; Romeo, G; Vaudin, M; Ross, Mt; Meindl, A; Bentley, Dr
Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes
2019-01-01 Miguel-Escalada, Irene; Bonàs-Guarch, Silvia; Cebola, Inês; Ponsa-Cobas, Joan; Mendieta-Esteban, Julen; Atla, Goutham; Javierre, Biola M; Rolando, Delphine M Y; Farabella, Irene; Morgan, Claire C; García-Hurtado, Javier; Beucher, Anthony; Morán, Ignasi; Pasquali, Lorenzo; Ramos-Rodríguez, Mireia; Appel, Emil V R; Linneberg, Allan; Gjesing, Anette P; Witte, Daniel R; Pedersen, Oluf; Grarup, Niels; Ravassard, Philippe; Torrents, David; Mercader, Josep M; Piemonti, Lorenzo; Berney, Thierry; de Koning, Eelco J P; Kerr-Conte, Julie; Pattou, François; Fedko, Iryna O; Groop, Leif; Prokopenko, Inga; Hansen, Torben; Marti-Renom, Marc A; Fraser, Peter; Ferrer, Jorge
The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes
2019-01-01 Ramos-Rodríguez, Mireia; Raurell-Vila, Helena; Colli, Maikel L; Alvelos, Maria Inês; Subirana-Granés, Marc; Juan-Mateu, Jonàs; Norris, Richard; Turatsinze, Jean-Valery; Nakayasu, Ernesto S; Webb-Robertson, Bobbie-Jo M; Inshaw, Jamie R J; Marchetti, Piero; Piemonti, Lorenzo; Esteller, Manel; Todd, John A; Metz, Thomas O; Eizirik, Décio L; Pasquali, Lorenzo
Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele
1997-01-01 Bennet, St; Wilson, Aj; Esposito, L; Bouzekri, N; Undlien, De; Cucca, F; Nisticò, L; Buzzetti, R; Imdiab, Group; Bosi, Emanuele; Pociot, F; Nerup, J; Cambon Thomsen, A; Pugliese, A; Shield, Jph; Mckinney, Pa; Bain, Sc; Polychronakos, C; Todd, Ja
A map of open chromatin in human pancreatic islets
2010-01-01 Kyle J., Gaulton; Takao, Nammo; Lorenzo, Pasquali; Jeremy M., Simon; Paul G., Giresi; Marie P., Fogarty; Tami M., Panhuis; Piotr, Mieczkowski; Secchi, Antonio; Domenico, Bosco; Thierry, Berney; Eduard, Montanya; Karen L., Mohlke; Jason D., Lieb; Jorge, Ferrer
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome
2020-01-01 Fasciani, A.; D'Annunzio, S.; Poli, V.; Fagnocchi, L.; Beyes, S.; Michelatti, D.; Corazza, F.; Antonelli, L.; Gregoretti, F.; Oliva, G.; Belli, R.; Peroni, D.; Domenici, E.; Zambrano, S.; Intartaglia, D.; Settembre, C.; Conte, I.; Testi, C.; Vergyris, P.; Ruocco, G.; Zippo, A.
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
2003-01-01 Roetto, A.; Papanikolaou, G.; Politou, M.; Alberti, F.; Girelli, D.; Christakis, J.; Loukopoulos, D.; Camaschella, Clara
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
1998-01-01 P., D'Adamo; OTHER 10, Authors; Valtorta, Flavia; W., Balch; J., Chelly; D., Toniolo
Ocular Albinism: evidence for a defect in an intracellular signal transduction system
1999-01-01 Schiaffino, Mv; D'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; K., Cortese; Puri, C; Bassi, Mt; Colla, C; DE LUCA, M; Tacchetti, Carlo; Ballabio, A.
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
2014-01-01 Pasquali, Lorenzo; Gaulton, Kyle J.; RodrÃguez SeguÃ, Santiago A.; Mularoni, Loris; Miguel Escalada, Irene; Akerman, Ildem; Tena, Juan J.; Morã¡n, Ignasi; Gómez MarÃn, Carlos; Van De Bunt, Martijn; Ponsa Cobas, Joan; Castro, Natalia; Nammo, Takao; Cebola, Inãªs; GarcÃa Hurtado, Javier; Maestro, Miguel Angel; Pattou, Franã§ois; Piemonti, Lorenzo; Berney, Thierry; Gloyn, Anna L.; Ravassard, Philippe; Skarmeta, José Luis Gómez; Mã¼ller, Ferenc; Mccarthy, Mark I.; Ferrer, Jorge
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
2009-01-01 van Haaften, G; Dalgliesh, Gl; Davies, H; Chen, L; Bignell, G; Greenman, C; Edkins, S; Hardy, C; O'Meara, S; Teague, J; Butler, A; Hinton, J; Latimer, C; Andrews, J; Barthorpe, S; Beare, D; Buck, G; Campbell, Pj; Cole, J; Forbes, S; Jia, M; Jones, D; Kok, Cy; Leroy, C; Lin, Ml; Mcbride, Dj; Maddison, M; Maquire, S; Mclay, K; Menzies, A; Mironenko, T; Mulderrig, L; Mudie, L; Pleasance, E; Shepherd, R; Smith, R; Stebbings, L; Stephens, P; Tang, G; Tarpey, Ps; Turner, R; Turrell, K; Varian, J; West, S; Widaa, S; Wray, P; Collins, Vp; Ichimura, K; Law, S; Wong, J; Yuen, St; Leung, Sy; Tonon, G; Depinho, Ra; Tai, Yt; Anderson, Kc; Kahnoski, Rj; Massie, A; Khoo, Sk; Teh, Bt; Stratton, Mr; Futreal, Pa.
t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway
2003-01-01 Tonon, G; Modi, S; Wu, L; Kubo, A; Coxon, Ab; Komiya, T; O'Neil, K; Stover, K; El-Naggar, A; Griffin, Jd; Kirsch, Ir; Kaye, Fj
The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22
2000-01-01 Camaschella, Clara; Roetto, A; Calì, A.; DE GOBBI, M.; Garozzo, G; Carella, M.; Maiorano, N.; Totaro, A.; Gasparini, P.
The lack of chromosomal protein HMG1 does not disrupt cell growth, but causes lethal hypoglycaemia in newborn mice
1999-01-01 Calogero, S.; Grassi, F.; Aguzzi, A.; Voigtländer, T.; Ferrier, P.; Ferrari, S.; Bianchi, MARCO EMILIO
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
2000-01-01 De Fusco, M; Becchetti, A; Patrignani, A; Annesi, G; Gambardella, A; Quattrone, A; Ballabio, A; Wanke, E; Casari, GIORGIO NEVIO
Transcript imaging of human T helper cell development using oligonucleotide arrays
2000-01-01 Rogge, L.; Bianchi, E.; Biffi, M.; Bono, E.; Chang, S. P.; Alexander, H.; Santini, C.; Ferrari, Giuliana; Sinigaglia, L.; Seiler, M.; Neeb, M.; Mous, J.; Sinigaglia, F. AND CERTA U.
Translating genes into health.
2013-01-01 Kricka, L; DI RESTA, Chiara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 | 1-gen-2003 | De Fusco, M; Marconi, R; Silvestri, L; Atorino, L; Rampoldi, L; Morgante, L; Ballabio, A; Aridon, P; Casari, GIORGIO NEVIO | |
| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene | 1-gen-1998 | Coffey, Aj; Brooksbank, Ra; Brandau, O; Oohashi, T; Howell, Gr; Bye, Jm; Cahn, Ap; Durham, J; Heath, P; Wray, P; Pavitt, R; Wilkinson, J; Leversha, M; Huckle, E; Shaw-Smith, Cj; Dunham, A; Rhodes, S; Schuster, V; Porta, G; Yin, L; Serafini, P; Sylla, B; Zollo, M; Franco, B; Bolino, A; Seri, M; Lanyi, A; Davis, Jr; Webster, D; Harris, A; Lenoir, G; St Basile, Gd; Jones, A; Behloradsky, Bh; Achatz, H; Murken, J; Fassler, R; Sumegi, J; Romeo, G; Vaudin, M; Ross, Mt; Meindl, A; Bentley, Dr | |
| Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes | 1-gen-2019 | Miguel-Escalada, Irene; Bonàs-Guarch, Silvia; Cebola, Inês; Ponsa-Cobas, Joan; Mendieta-Esteban, Julen; Atla, Goutham; Javierre, Biola M; Rolando, Delphine M Y; Farabella, Irene; Morgan, Claire C; García-Hurtado, Javier; Beucher, Anthony; Morán, Ignasi; Pasquali, Lorenzo; Ramos-Rodríguez, Mireia; Appel, Emil V R; Linneberg, Allan; Gjesing, Anette P; Witte, Daniel R; Pedersen, Oluf; Grarup, Niels; Ravassard, Philippe; Torrents, David; Mercader, Josep M; Piemonti, Lorenzo; Berney, Thierry; de Koning, Eelco J P; Kerr-Conte, Julie; Pattou, François; Fedko, Iryna O; Groop, Leif; Prokopenko, Inga; Hansen, Torben; Marti-Renom, Marc A; Fraser, Peter; Ferrer, Jorge | |
| The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes | 1-gen-2019 | Ramos-Rodríguez, Mireia; Raurell-Vila, Helena; Colli, Maikel L; Alvelos, Maria Inês; Subirana-Granés, Marc; Juan-Mateu, Jonàs; Norris, Richard; Turatsinze, Jean-Valery; Nakayasu, Ernesto S; Webb-Robertson, Bobbie-Jo M; Inshaw, Jamie R J; Marchetti, Piero; Piemonti, Lorenzo; Esteller, Manel; Todd, John A; Metz, Thomas O; Eizirik, Décio L; Pasquali, Lorenzo | |
| Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele | 1-gen-1997 | Bennet, St; Wilson, Aj; Esposito, L; Bouzekri, N; Undlien, De; Cucca, F; Nisticò, L; Buzzetti, R; Imdiab, Group; Bosi, Emanuele; Pociot, F; Nerup, J; Cambon Thomsen, A; Pugliese, A; Shield, Jph; Mckinney, Pa; Bain, Sc; Polychronakos, C; Todd, Ja | |
| A map of open chromatin in human pancreatic islets | 1-gen-2010 | Kyle J., Gaulton; Takao, Nammo; Lorenzo, Pasquali; Jeremy M., Simon; Paul G., Giresi; Marie P., Fogarty; Tami M., Panhuis; Piotr, Mieczkowski; Secchi, Antonio; Domenico, Bosco; Thierry, Berney; Eduard, Montanya; Karen L., Mohlke; Jason D., Lieb; Jorge, Ferrer | |
| MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome | 1-gen-2020 | Fasciani, A.; D'Annunzio, S.; Poli, V.; Fagnocchi, L.; Beyes, S.; Michelatti, D.; Corazza, F.; Antonelli, L.; Gregoretti, F.; Oliva, G.; Belli, R.; Peroni, D.; Domenici, E.; Zambrano, S.; Intartaglia, D.; Settembre, C.; Conte, I.; Testi, C.; Vergyris, P.; Ruocco, G.; Zippo, A. | |
| Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis | 1-gen-2003 | Roetto, A.; Papanikolaou, G.; Politou, M.; Alberti, F.; Girelli, D.; Christakis, J.; Loukopoulos, D.; Camaschella, Clara | |
| Mutations in GDI1 are responsible for X-linked non-specific mental retardation | 1-gen-1998 | P., D'Adamo; OTHER 10, Authors; Valtorta, Flavia; W., Balch; J., Chelly; D., Toniolo | |
| Ocular Albinism: evidence for a defect in an intracellular signal transduction system | 1-gen-1999 | Schiaffino, Mv; D'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; K., Cortese; Puri, C; Bassi, Mt; Colla, C; DE LUCA, M; Tacchetti, Carlo; Ballabio, A. | |
| Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants | 1-gen-2014 | Pasquali, Lorenzo; Gaulton, Kyle J.; RodrÃguez SeguÃ, Santiago A.; Mularoni, Loris; Miguel Escalada, Irene; Akerman, Ildem; Tena, Juan J.; Morã¡n, Ignasi; Gómez MarÃn, Carlos; Van De Bunt, Martijn; Ponsa Cobas, Joan; Castro, Natalia; Nammo, Takao; Cebola, Inãªs; GarcÃa Hurtado, Javier; Maestro, Miguel Angel; Pattou, Franã§ois; Piemonti, Lorenzo; Berney, Thierry; Gloyn, Anna L.; Ravassard, Philippe; Skarmeta, José Luis Gómez; Mã¼ller, Ferenc; Mccarthy, Mark I.; Ferrer, Jorge | |
| Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. | 1-gen-2009 | van Haaften, G; Dalgliesh, Gl; Davies, H; Chen, L; Bignell, G; Greenman, C; Edkins, S; Hardy, C; O'Meara, S; Teague, J; Butler, A; Hinton, J; Latimer, C; Andrews, J; Barthorpe, S; Beare, D; Buck, G; Campbell, Pj; Cole, J; Forbes, S; Jia, M; Jones, D; Kok, Cy; Leroy, C; Lin, Ml; Mcbride, Dj; Maddison, M; Maquire, S; Mclay, K; Menzies, A; Mironenko, T; Mulderrig, L; Mudie, L; Pleasance, E; Shepherd, R; Smith, R; Stebbings, L; Stephens, P; Tang, G; Tarpey, Ps; Turner, R; Turrell, K; Varian, J; West, S; Widaa, S; Wray, P; Collins, Vp; Ichimura, K; Law, S; Wong, J; Yuen, St; Leung, Sy; Tonon, G; Depinho, Ra; Tai, Yt; Anderson, Kc; Kahnoski, Rj; Massie, A; Khoo, Sk; Teh, Bt; Stratton, Mr; Futreal, Pa. | |
| t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway | 1-gen-2003 | Tonon, G; Modi, S; Wu, L; Kubo, A; Coxon, Ab; Komiya, T; O'Neil, K; Stover, K; El-Naggar, A; Griffin, Jd; Kirsch, Ir; Kaye, Fj | |
| The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22 | 1-gen-2000 | Camaschella, Clara; Roetto, A; Calì, A.; DE GOBBI, M.; Garozzo, G; Carella, M.; Maiorano, N.; Totaro, A.; Gasparini, P. | |
| The lack of chromosomal protein HMG1 does not disrupt cell growth, but causes lethal hypoglycaemia in newborn mice | 1-gen-1999 | Calogero, S.; Grassi, F.; Aguzzi, A.; Voigtländer, T.; Ferrier, P.; Ferrari, S.; Bianchi, MARCO EMILIO | |
| The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy | 1-gen-2000 | De Fusco, M; Becchetti, A; Patrignani, A; Annesi, G; Gambardella, A; Quattrone, A; Ballabio, A; Wanke, E; Casari, GIORGIO NEVIO | |
| Transcript imaging of human T helper cell development using oligonucleotide arrays | 1-gen-2000 | Rogge, L.; Bianchi, E.; Biffi, M.; Bono, E.; Chang, S. P.; Alexander, H.; Santini, C.; Ferrari, Giuliana; Sinigaglia, L.; Seiler, M.; Neeb, M.; Mous, J.; Sinigaglia, F. AND CERTA U. | |
| Translating genes into health. | 1-gen-2013 | Kricka, L; DI RESTA, Chiara |
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