GIANFRANCESCO, FERNANDO
GIANFRANCESCO, FERNANDO
Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli
A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model
2023 Russo, Sharon; di Carlo, Federica Scotto; Maurizi, Antonio; Fortunato, Giorgio; Teti, Anna; Licastro, Danilo; Settembre, Carmine; Mello, Tommaso; Gianfrancesco, Fernando
Profilin 1 deficiency drives mitotic defects and reduces genome stability
2023 Scotto di Carlo F.; Russo S.; Muyas F.; Mangini M.; Garribba L.; Pazzaglia L.; Genesio R.; Biamonte F.; De Luca A.C.; Santaguida S.; Scotlandi K.; CortesCiriano I.; Gianfrancesco F.
Early Alpine occupation backdates westward human migration in Late Glacial Europe
2021 Bortolini E.; Pagani L.; Oxilia G.; Posth C.; Fontana F.; Badino F.; Saupe T.; Montinaro F.; Margaritora D.; Romandini M.; Lugli F.; Papini A.; Boggioni M.; Perrini N.; Oxilia A.; Cigliano R.A.; Barcelona R.; Visentin D.; Fasser N.; Arrighi S.; Figus C.; Marciani G.; Silvestrini S.; Bernardini F.; Menghi Sartorio J.C.; Fiorenza L.; Cecchi J.M.; Tuniz C.; Kivisild T.; Gianfrancesco F.; Peresani M.; Scheib C.L.; Talamo S.; D'Esposito M.; Benazzi S.
Identification of sixteen novel candidate genes for late onset Parkinson's disease
2021 Gialluisi A.; Reccia M.G.; Modugno N.; Nutile T.; Lombardi A.; Di Giovannantonio L.G.; Pietracupa S.; Ruggiero D.; Scala S.; Gambardella S.; Iacoviello L.; Gianfrancesco F.; Acampora D.; D'Esposito M.; Simeone A.; Ciullo M.; Esposito T.
Modulation of endocannabinoid tone in osteoblastic differentiation of mc3t3-e1 cells and in mouse bone tissue over time
2021 Kostrzewa M.; Mahmoud A.M.; Verde R.; Di Carlo F.S.; Gianfrancesco F.; Piscitelli F.; Ligresti A.
Novel autophagic vacuolar myopathies: Phenotype and genotype features
2021 Napolitano, F; Terracciano, C; Bruno, G; De Blasiis, P; Lombardi, L; Gialluisi, A; Gianfrancesco, F; De Giovanni, D; Tummolo, A; Di Iorio, G; Limongelli, G; Esposito, T; Anna Beatrice Melone, M; Sampaolo, S
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone
2020 Scotto di Carlo F.; Pazzaglia L.; Esposito T.; Gianfrancesco F.
The two faces of giant cell tumor of bone
2020 Scotto di Carlo, F; Whyte, Mp; Gianfrancesco, F
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology
2020 Scotto di Carlo, F; Pazzaglia, L; Mumm, S; Benassi, Ms; De Chiara, A; Franchi, A; Parafioriti, A; Righi, A; Esposito, T; Whyte, Mp; Gianfrancesco, F
Early posterior vitreous detachment is associated with LAMA5 dominant mutation
2019 Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone
Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
2018 Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, M G; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, M A B; Esposito, T; Sampaolo, S
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.
2018 Silva, Iris A L; Conceicao, Natercia; Gagnon, Edith; Caiado, Helena; Brown, Jacques P; Gianfrancesco, Fernando; Michou, Laetitia; Leonor Cancela, M
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.
2018 Alonso, N; Estrada, K; Albagha, Ome; Herrera, L; Reppe, S; Olstad, Ok; Gautvik, Km; Ryan, Nm; Evans, Kl; Nielson, Cm; Hsu, Yh; Kiel, Dp; Markozannes, G; Ntzani, Ee; Evangelou, E; Feenstra, B; Liu, X; Melbye, M; Masi, L; Brandi, Ml; Riches, P; Daroszewska, A; Olmos, Jm; Valero, C; Castillo, J; Riancho, Ja; Husted, Lb; Langdahl, Bl; Brown, Ma; Duncan, El; Kaptoge, S; Khaw, Kt; Usateguimartín, R; Del PinoMontes, J; Gonzálezsarmiento, R; Lewis, Jr; Prince, Rl; D'Amelio, P; Garcíagiralt, N; Nogués, X; Mencejbedrac, S; Marc, J; Wolstein, O; Eisman, Ja; Oei, L; Medinagómez, C; Schraut, Ke; Navarro, P; Wilson, Jf; Davies, G; Starr, J; Deary, I; Tanaka, T; Ferrucci, L; Gianfrancesco, F; Gennari, L; Lucas, G; Elosua, R; Uitterlinden, Ag; Rivadeneira, F; Ralston, Sh
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location
2018 Scotto di Carlo, F; Divisato, G; Iacoangeli, M; Esposito, T; Gianfrancesco, F
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.
2018 Divisato, G; di Carlo, Fs; Petrillo, N; Esposito, T; Gianfrancesco, F
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation.
2017 Esposito, Teresa; De Stefano, Giovanni; Reccia Mafalda, Giovanna; Di Lorenzo, Ilaria; Napolitano, Filomena; Scalabri, Francesco; Lombardi, Alessia; Saleem Moin, A; Griffiths Lyn, R; Gianfrancesco, Fernando
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
2017 Sampaolo, Simone; Napolitano, Filomena; Tirozzi, Alfonsina; Reccia Mafalda, Giovanna; Lombardi, Luca; Farina, Olimpia; Barra, Adriano; Cirillo, Ferdinando; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Iorio Giuseppe, Di; Esposito, Teresa
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences
2017 Divisato, Giuseppina; Di Carlo, Federica Scotto; Pazzaglia, Laura; Rizzo, Riccardo; Coviello, Domenico A.; Benassi, Maria Serena; Picci, Piero; Esposito, Teresa; Gianfrancesco, Fernando
Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers.
2016 Rendina D; De Filippo G; Gianfrancesco F; Muscariello R; Schiano di Cola M; Strazzullo P; Esposito T.
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
2016 Divisato G; Formicola D; Esposito T; Merlotti D; Pazzaglia L; Del Fattore A; Siris E; Orcel P; Brown JP; Nuti R; Strazzullo P; Benassi MS; Cancela ML; Michou L; Rendina D; Gennari L; Gianfrancesco F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model | 1-gen-2023 | Russo, Sharon; di Carlo, Federica Scotto; Maurizi, Antonio; Fortunato, Giorgio; Teti, Anna; Licastro, Danilo; Settembre, Carmine; Mello, Tommaso; Gianfrancesco, Fernando | |
| Profilin 1 deficiency drives mitotic defects and reduces genome stability | 1-gen-2023 | Scotto di Carlo F.; Russo S.; Muyas F.; Mangini M.; Garribba L.; Pazzaglia L.; Genesio R.; Biamonte F.; De Luca A.C.; Santaguida S.; Scotlandi K.; CortesCiriano I.; Gianfrancesco F. | |
| Early Alpine occupation backdates westward human migration in Late Glacial Europe | 1-gen-2021 | Bortolini E.; Pagani L.; Oxilia G.; Posth C.; Fontana F.; Badino F.; Saupe T.; Montinaro F.; Margaritora D.; Romandini M.; Lugli F.; Papini A.; Boggioni M.; Perrini N.; Oxilia A.; Cigliano R.A.; Barcelona R.; Visentin D.; Fasser N.; Arrighi S.; Figus C.; Marciani G.; Silvestrini S.; Bernardini F.; Menghi Sartorio J.C.; Fiorenza L.; Cecchi J.M.; Tuniz C.; Kivisild T.; Gianfrancesco F.; Peresani M.; Scheib C.L.; Talamo S.; D'Esposito M.; Benazzi S. | |
| Identification of sixteen novel candidate genes for late onset Parkinson's disease | 1-gen-2021 | Gialluisi A.; Reccia M.G.; Modugno N.; Nutile T.; Lombardi A.; Di Giovannantonio L.G.; Pietracupa S.; Ruggiero D.; Scala S.; Gambardella S.; Iacoviello L.; Gianfrancesco F.; Acampora D.; D'Esposito M.; Simeone A.; Ciullo M.; Esposito T. | |
| Modulation of endocannabinoid tone in osteoblastic differentiation of mc3t3-e1 cells and in mouse bone tissue over time | 1-gen-2021 | Kostrzewa M.; Mahmoud A.M.; Verde R.; Di Carlo F.S.; Gianfrancesco F.; Piscitelli F.; Ligresti A. | |
| Novel autophagic vacuolar myopathies: Phenotype and genotype features | 1-gen-2021 | Napolitano, F; Terracciano, C; Bruno, G; De Blasiis, P; Lombardi, L; Gialluisi, A; Gianfrancesco, F; De Giovanni, D; Tummolo, A; Di Iorio, G; Limongelli, G; Esposito, T; Anna Beatrice Melone, M; Sampaolo, S | |
| The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone | 1-gen-2020 | Scotto di Carlo F.; Pazzaglia L.; Esposito T.; Gianfrancesco F. | |
| The two faces of giant cell tumor of bone | 1-gen-2020 | Scotto di Carlo, F; Whyte, Mp; Gianfrancesco, F | |
| ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology | 1-gen-2020 | Scotto di Carlo, F; Pazzaglia, L; Mumm, S; Benassi, Ms; De Chiara, A; Franchi, A; Parafioriti, A; Righi, A; Esposito, T; Whyte, Mp; Gianfrancesco, F | |
| Early posterior vitreous detachment is associated with LAMA5 dominant mutation | 1-gen-2019 | Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone | |
| Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. | 1-gen-2018 | Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, M G; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, M A B; Esposito, T; Sampaolo, S | |
| Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. | 1-gen-2018 | Silva, Iris A L; Conceicao, Natercia; Gagnon, Edith; Caiado, Helena; Brown, Jacques P; Gianfrancesco, Fernando; Michou, Laetitia; Leonor Cancela, M | |
| Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. | 1-gen-2018 | Alonso, N; Estrada, K; Albagha, Ome; Herrera, L; Reppe, S; Olstad, Ok; Gautvik, Km; Ryan, Nm; Evans, Kl; Nielson, Cm; Hsu, Yh; Kiel, Dp; Markozannes, G; Ntzani, Ee; Evangelou, E; Feenstra, B; Liu, X; Melbye, M; Masi, L; Brandi, Ml; Riches, P; Daroszewska, A; Olmos, Jm; Valero, C; Castillo, J; Riancho, Ja; Husted, Lb; Langdahl, Bl; Brown, Ma; Duncan, El; Kaptoge, S; Khaw, Kt; Usateguimartín, R; Del PinoMontes, J; Gonzálezsarmiento, R; Lewis, Jr; Prince, Rl; D'Amelio, P; Garcíagiralt, N; Nogués, X; Mencejbedrac, S; Marc, J; Wolstein, O; Eisman, Ja; Oei, L; Medinagómez, C; Schraut, Ke; Navarro, P; Wilson, Jf; Davies, G; Starr, J; Deary, I; Tanaka, T; Ferrucci, L; Gianfrancesco, F; Gennari, L; Lucas, G; Elosua, R; Uitterlinden, Ag; Rivadeneira, F; Ralston, Sh | |
| The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location | 1-gen-2018 | Scotto di Carlo, F; Divisato, G; Iacoangeli, M; Esposito, T; Gianfrancesco, F | |
| ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. | 1-gen-2018 | Divisato, G; di Carlo, Fs; Petrillo, N; Esposito, T; Gianfrancesco, F | |
| Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. | 1-gen-2017 | Esposito, Teresa; De Stefano, Giovanni; Reccia Mafalda, Giovanna; Di Lorenzo, Ilaria; Napolitano, Filomena; Scalabri, Francesco; Lombardi, Alessia; Saleem Moin, A; Griffiths Lyn, R; Gianfrancesco, Fernando | |
| Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. | 1-gen-2017 | Sampaolo, Simone; Napolitano, Filomena; Tirozzi, Alfonsina; Reccia Mafalda, Giovanna; Lombardi, Luca; Farina, Olimpia; Barra, Adriano; Cirillo, Ferdinando; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Iorio Giuseppe, Di; Esposito, Teresa | |
| The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences | 1-gen-2017 | Divisato, Giuseppina; Di Carlo, Federica Scotto; Pazzaglia, Laura; Rizzo, Riccardo; Coviello, Domenico A.; Benassi, Maria Serena; Picci, Piero; Esposito, Teresa; Gianfrancesco, Fernando | |
| Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers. | 1-gen-2016 | Rendina D; De Filippo G; Gianfrancesco F; Muscariello R; Schiano di Cola M; Strazzullo P; Esposito T. | |
| ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. | 1-gen-2016 | Divisato G; Formicola D; Esposito T; Merlotti D; Pazzaglia L; Del Fattore A; Siris E; Orcel P; Brown JP; Nuti R; Strazzullo P; Benassi MS; Cancela ML; Michou L; Rendina D; Gennari L; Gianfrancesco F. |