STEFANINI, MIRIA
STEFANINI, MIRIA
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy
2022 Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence.
2019 Cordisco, S; Tinaburri, L; Teson, M; Orioli, D; Cardin, R; Degan, P; Stefanini, M; Zambruno, G; Guerra, L; Dellambra, E
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence.
2018 Cordisco, S; Tinaburri, L; Teson, M; Orioli, D; Cardin, R; Degan, P; Stefanini, M; Zambruno, G; Guerra, L; Dellambra, E
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
2018 Calmels, N; Botta, E; Jia, N; Fawcett, H; Nardo, T; Nakazawa, Y; Lanzafame, M; Moriwaki, S; Sugita, K; Kubota, M; Obringer, C; Spitz, Ma; Stefanini, M; Laugel, V; Orioli, D; Ogi, T; Lehmann, Ar
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features
2018 Ricotti R.; Nardo T.; Striano P.; Stefanini M.; Orioli D.; Botta E.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
2016 Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Anam. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
2016 Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.; Stefanini M.
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells.
2016 Pascucci B.; D'Errico M.; Romagnoli A.; De Nuccio C.; Savino M.; Pietraforte D.; Lanzafame M.; Calcagnile A.S.; Fortini P.; Baccarini S.; Orioli D.; Degan P.; Visentin S.; Stefanini M.; Isidoro C.; Fimia G.M.; Dogliotti E.
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes
2015 Lanzafame, M; Botta, E; Teson, M; Fortugno, P; Zambruno, G; Stefanini, M; Orioli, D
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin
2015 Arseni, L; Lanzafame, M; Compe, E; Fortugno, P; Afonsobarroso, A; Peverali, Fa; Lehmann, Ar; Zambruno, G; Egly, Jm; Stefanini, M; Orioli, D
The role of mitochondrial dysfunction in Cockayne Syndrome
2015 Mariarosaria D'Errico; Barbara Pascucci; Alessandra Romagnoli; Chiara De Nuccio; Miriam Savino; Donatella Pietraforte; Manuela Lanzafame; Angelo Salvatore Calcagnile; Paola Fortini; Sara Baccarini; Donata Orioli; Paolo Degan; Sergio Visentin; Miria Stefanini; Ciro Isidoro; Gian Maria Fimia; Eugenia Dogliotti
Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network
2014 Lombardi, A; Carriero, R; Arseni, L; Biamonti, G; Stefanini, M; Bione, S; Orioli, D
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations
2014 Arseni L; Lanzafame M; Compe E; Fortugno P; AfonsoBarroso A; Peverali FA; Zambruno G; Egly JM; Stefanini M; Orioli D
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations
2014 Orioli, D; Arseni, L; Lanzafame, M; Nardo, T; Botta, E; Peverali, Fa; Compe, E; Egly, Jm; Stefanini, M
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV
2013 Lanzafame M; Botta E; Nardo T; Garbelli M; Ricotti R; Orioli D; Stefanini M
Does CSA play a role in mitochondrial quality control?
2013 Pascucci, B; Lanzafame, M; Orioli, D; Stefanini, M; Fimia, G; Romagnoli, A; Visentin, S; De Nuccio, C; Calcagnile, A; Vaz, B; Degan, P; Dogliotti, E; D'Errico, M
Does CSA play a role in mitochondrial quality control?
2013 Pascucci B.; Lanzafame M.; Orioli D.; Stefanini M.; Fimia G.; Romagnoli A.; Visentin S.; De Nuccio C.; Calcagnile A.; Vaz B.; Degan P.; Dogliotti E.; D'Errico M.
From laboratory tests to functional characterisation of Cockayne syndrome
2013 Lanzafame, M; Vaz, B; Nardo, T; Botta, E; Orioli, D; Stefanini, M
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack
2013 Oksenych V; Zhovmer A; Ziani S; Mari PO; Eberova J; Nardo T; Stefanini M; GigliaMari G; Egly JM; Coin F.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
2013 Kashiyama, K; Nakazawa, Y; Pilz, Dt; Guo, C; Shimada, M; Sasaki, K; Fawcett, H; Wing, Jf; Lewin, So; Carr, L; Li, Ts; Yoshiura, Ki; Utani, A; Hirano, A; Yamashita, S; Greenblatt, D; Nardo, T; Stefanini, M; Mcgibbon, D; Sarkany, R; Fassihi, H; Takahashi, Y; Nagayama, Y; Mitsutake, N; Lehmann, Ar; Ogi, T
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy | 1-gen-2022 | Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E | |
| Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. | 1-gen-2019 | Cordisco, S; Tinaburri, L; Teson, M; Orioli, D; Cardin, R; Degan, P; Stefanini, M; Zambruno, G; Guerra, L; Dellambra, E | |
| Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. | 1-gen-2018 | Cordisco, S; Tinaburri, L; Teson, M; Orioli, D; Cardin, R; Degan, P; Stefanini, M; Zambruno, G; Guerra, L; Dellambra, E | |
| Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. | 1-gen-2018 | Calmels, N; Botta, E; Jia, N; Fawcett, H; Nardo, T; Nakazawa, Y; Lanzafame, M; Moriwaki, S; Sugita, K; Kubota, M; Obringer, C; Spitz, Ma; Stefanini, M; Laugel, V; Orioli, D; Ogi, T; Lehmann, Ar | |
| Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features | 1-gen-2018 | Ricotti R.; Nardo T.; Striano P.; Stefanini M.; Orioli D.; Botta E. | |
| Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect | 1-gen-2016 | Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Anam. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R. | |
| GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy | 1-gen-2016 | Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.; Stefanini M. | |
| Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. | 1-gen-2016 | Pascucci B.; D'Errico M.; Romagnoli A.; De Nuccio C.; Savino M.; Pietraforte D.; Lanzafame M.; Calcagnile A.S.; Fortini P.; Baccarini S.; Orioli D.; Degan P.; Visentin S.; Stefanini M.; Isidoro C.; Fimia G.M.; Dogliotti E. | |
| Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes | 1-gen-2015 | Lanzafame, M; Botta, E; Teson, M; Fortugno, P; Zambruno, G; Stefanini, M; Orioli, D | |
| TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin | 1-gen-2015 | Arseni, L; Lanzafame, M; Compe, E; Fortugno, P; Afonsobarroso, A; Peverali, Fa; Lehmann, Ar; Zambruno, G; Egly, Jm; Stefanini, M; Orioli, D | |
| The role of mitochondrial dysfunction in Cockayne Syndrome | 1-gen-2015 | Mariarosaria D'Errico; Barbara Pascucci; Alessandra Romagnoli; Chiara De Nuccio; Miriam Savino; Donatella Pietraforte; Manuela Lanzafame; Angelo Salvatore Calcagnile; Paola Fortini; Sara Baccarini; Donata Orioli; Paolo Degan; Sergio Visentin; Miria Stefanini; Ciro Isidoro; Gian Maria Fimia; Eugenia Dogliotti | |
| Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network | 1-gen-2014 | Lombardi, A; Carriero, R; Arseni, L; Biamonti, G; Stefanini, M; Bione, S; Orioli, D | |
| TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations | 1-gen-2014 | Arseni L; Lanzafame M; Compe E; Fortugno P; AfonsoBarroso A; Peverali FA; Zambruno G; Egly JM; Stefanini M; Orioli D | |
| TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations | 1-gen-2014 | Orioli, D; Arseni, L; Lanzafame, M; Nardo, T; Botta, E; Peverali, Fa; Compe, E; Egly, Jm; Stefanini, M | |
| Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV | 1-gen-2013 | Lanzafame M; Botta E; Nardo T; Garbelli M; Ricotti R; Orioli D; Stefanini M | |
| Does CSA play a role in mitochondrial quality control? | 1-gen-2013 | Pascucci, B; Lanzafame, M; Orioli, D; Stefanini, M; Fimia, G; Romagnoli, A; Visentin, S; De Nuccio, C; Calcagnile, A; Vaz, B; Degan, P; Dogliotti, E; D'Errico, M | |
| Does CSA play a role in mitochondrial quality control? | 1-gen-2013 | Pascucci B.; Lanzafame M.; Orioli D.; Stefanini M.; Fimia G.; Romagnoli A.; Visentin S.; De Nuccio C.; Calcagnile A.; Vaz B.; Degan P.; Dogliotti E.; D'Errico M. | |
| From laboratory tests to functional characterisation of Cockayne syndrome | 1-gen-2013 | Lanzafame, M; Vaz, B; Nardo, T; Botta, E; Orioli, D; Stefanini, M | |
| Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack | 1-gen-2013 | Oksenych V; Zhovmer A; Ziani S; Mari PO; Eberova J; Nardo T; Stefanini M; GigliaMari G; Egly JM; Coin F. | |
| Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia | 1-gen-2013 | Kashiyama, K; Nakazawa, Y; Pilz, Dt; Guo, C; Shimada, M; Sasaki, K; Fawcett, H; Wing, Jf; Lewin, So; Carr, L; Li, Ts; Yoshiura, Ki; Utani, A; Hirano, A; Yamashita, S; Greenblatt, D; Nardo, T; Stefanini, M; Mcgibbon, D; Sarkany, R; Fassihi, H; Takahashi, Y; Nagayama, Y; Mitsutake, N; Lehmann, Ar; Ogi, T |