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
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
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress.
2013 Soltys, Dt; Rocha, Cr; Lerner, Lk; de Souza, Ta; Munford, V; Cabral, F; Nardo, T; Stefanini, M; Sarasin, A; Cabralneto, Jb; Menck, Cf
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions
2013 Sethi, M; Lehmann, Ar; Fawcett, H; Stefanini, M; Jaspers, N; Mullard, K; Turner, S; Robson, A; Mcgibbon, D; Sarkany, R; Fassihi, H
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
2013 Orioli, D; Compe, E; Nardo, T; Mura, M; Giraudon, C; Botta, E; Arrigoni, L; Peverali, Fa; Egly, Jm; Stefanini, M
An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress
2012 Pascucci, B; Lemma, T; Iorio, E; Giovannini, S; Vaz, B; Iavarone, I; Calcagnile, A; Narciso, L; Degan, P; Podo, F; Roginskya, V; Janjic, Bm; Van Houten, B; Stefanini, M; Dogliotti, E; D'Errico, M
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
2012 Nakazawa, Y; Sasaki, K; Mitsutake, N; Matsuse, M; Shimada, M; Nardo, T; Takahashi, Y; Ohyama, K; Ito, K; Mishima, H; Nomura, M; Kinoshita, A; Ono, S; Takenaka, K; Masuyama, R; Kudo, T; Slor, H; Utani, A; Tateishi, S; Yamashita, S; Stefanini, M; Lehmann, Ar; Yoshiura, K; Ogi, T
CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination.
2011 Latini P; Frontini M; Caputo M; Gregan J; Cipak L; Filippi S; Kumar V; VelezCruz R; Stefanini M;ProiettiDeSantis L.
Xeroderma pigmentosum
2011 Lehmann, Ar; Mcgibbon, D; Stefanini, M
| 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 | |
| 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 | |
| Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. | 1-gen-2013 | Soltys, Dt; Rocha, Cr; Lerner, Lk; de Souza, Ta; Munford, V; Cabral, F; Nardo, T; Stefanini, M; Sarasin, A; Cabralneto, Jb; Menck, Cf | |
| Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions | 1-gen-2013 | Sethi, M; Lehmann, Ar; Fawcett, H; Stefanini, M; Jaspers, N; Mullard, K; Turner, S; Robson, A; Mcgibbon, D; Sarkany, R; Fassihi, H | |
| XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. | 1-gen-2013 | Orioli, D; Compe, E; Nardo, T; Mura, M; Giraudon, C; Botta, E; Arrigoni, L; Peverali, Fa; Egly, Jm; Stefanini, M | |
| An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress | 1-gen-2012 | Pascucci, B; Lemma, T; Iorio, E; Giovannini, S; Vaz, B; Iavarone, I; Calcagnile, A; Narciso, L; Degan, P; Podo, F; Roginskya, V; Janjic, Bm; Van Houten, B; Stefanini, M; Dogliotti, E; D'Errico, M | |
| Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. | 1-gen-2012 | Nakazawa, Y; Sasaki, K; Mitsutake, N; Matsuse, M; Shimada, M; Nardo, T; Takahashi, Y; Ohyama, K; Ito, K; Mishima, H; Nomura, M; Kinoshita, A; Ono, S; Takenaka, K; Masuyama, R; Kudo, T; Slor, H; Utani, A; Tateishi, S; Yamashita, S; Stefanini, M; Lehmann, Ar; Yoshiura, K; Ogi, T | |
| CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination. | 1-gen-2011 | Latini P; Frontini M; Caputo M; Gregan J; Cipak L; Filippi S; Kumar V; VelezCruz R; Stefanini M;ProiettiDeSantis L. | |
| Xeroderma pigmentosum | 1-gen-2011 | Lehmann, Ar; Mcgibbon, D; Stefanini, M |