BOTTA, ELENA
BOTTA, ELENA
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
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene
2021 Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A.
Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy
2021 Botta E; Theil AF; Raams A; Caligiuri G; Giachetti S; Bione S; Accadia M; Lombardi A; Smith DEC; Mendes MI; Swagemakers SMA; van der Spek PJ; Salomons GS; Hoeijmakers JHJ; Yesodharan D; Nampoothiri S; Ogi T; Lehmann AR; Orioli D; Vermeulen W.
Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy
2021 Lombardi, A; Arseni, L; Carriero, R; Compe, E; Botta, E; Ferri, D; Ugge', M; Biamonti, G; Peverali, Fa; Bione, S; Orioli, D
Heterogeneity and overlaps in nucleotide excision repair disorders
2020 Ferri D; Orioli D; Botta E.
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
2019 Theil, Af; Botta, E; Raams, A; Smith, Dec; Mendes, Mi; Caligiuri, G; Giachetti, S; Bione, S; Carriero, R; Liberi, G; Zardoni, L; Swagemakers, Sma; Salomons, Gs; Sarasin, A; Lehmann, A; van der Spek, Pj; Ogi, T; Hoeijmakers, Jhj; Vermeulen, W; Orioli, D
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.
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
2015 Corbett, Ma; Duddingbyth, T; Crock, Pa; Botta, E; Christie, Lm; Nardo, T; Caligiuri, G; Hobson, L; Boyle, J; Mansour, A; Friend, Kl; Crawford, J; Jackson, G; Vandeleur, L; Hackett, A; Tarpey, P; Stratton, Mr; Turner, G; Gécz, J; Field, M
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
From laboratory tests to functional characterisation of Cockayne syndrome
2013 Lanzafame, M; Vaz, B; Nardo, T; Botta, E; Orioli, D; Stefanini, M
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
Trichothiodystrophy: From basic mechanisms to clinical implications.
2010 Stefanini, M; Botta, E; Lanzafame, M; Orioli, D
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene.
2009 Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M.
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
2007 Botta E; Offman J; Nardo T; Ricotti R; Zambruno G; Sansone D; Balestri P; Raams A; Kleijer WJ; Jaspers NG; Sarasin A; Lehmann AR; Stefanini M.
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne Syndrome.
2005 Theron T.; Fousteri M.I.; Volker M.; Harries L.W.; Botta E.; Stefanini M.; Fujimoto M.; Andressoo J.; Mitchell J.; Jaspers N.G.J.; McDaniel L.D.; Mullenders L.;Lehmann A.R.
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features.
2005 Fujimoto, M; Leech, Sn; Theron, T; Mori, M; Fawcett, H; Botta, E; Nozaki, Y; Yamagata, T; Moriwaki, S; Stefanini, M; Momoi, My; Nakagawa, H; Shuster, S; Moss, C; Lehmann, Ar
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
2004 Gigliamari, G; Coin, F; Ranish, Aj; Hoogstraten, D; Theil, A; Wijgers, N; Jaspers, Ngj; Raams, A; Argentini, M; van der Spek, Pj; Botta, E; Stefanini, M; Egly, Jm; Aebersold, R; Hoeijmakers, Jhj; Vermeulen, W
| 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 | |
| Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene | 1-gen-2021 | Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A. | |
| Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy | 1-gen-2021 | Botta E; Theil AF; Raams A; Caligiuri G; Giachetti S; Bione S; Accadia M; Lombardi A; Smith DEC; Mendes MI; Swagemakers SMA; van der Spek PJ; Salomons GS; Hoeijmakers JHJ; Yesodharan D; Nampoothiri S; Ogi T; Lehmann AR; Orioli D; Vermeulen W. | |
| Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy | 1-gen-2021 | Lombardi, A; Arseni, L; Carriero, R; Compe, E; Botta, E; Ferri, D; Ugge', M; Biamonti, G; Peverali, Fa; Bione, S; Orioli, D | |
| Heterogeneity and overlaps in nucleotide excision repair disorders | 1-gen-2020 | Ferri D; Orioli D; Botta E. | |
| Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype | 1-gen-2019 | Theil, Af; Botta, E; Raams, A; Smith, Dec; Mendes, Mi; Caligiuri, G; Giachetti, S; Bione, S; Carriero, R; Liberi, G; Zardoni, L; Swagemakers, Sma; Salomons, Gs; Sarasin, A; Lehmann, A; van der Spek, Pj; Ogi, T; Hoeijmakers, Jhj; Vermeulen, W; Orioli, D | |
| 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. | |
| A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A | 1-gen-2015 | Corbett, Ma; Duddingbyth, T; Crock, Pa; Botta, E; Christie, Lm; Nardo, T; Caligiuri, G; Hobson, L; Boyle, J; Mansour, A; Friend, Kl; Crawford, J; Jackson, G; Vandeleur, L; Hackett, A; Tarpey, P; Stratton, Mr; Turner, G; Gécz, J; Field, M | |
| 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 | |
| From laboratory tests to functional characterisation of Cockayne syndrome | 1-gen-2013 | Lanzafame, M; Vaz, B; Nardo, T; Botta, E; Orioli, D; Stefanini, M | |
| 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 | |
| Trichothiodystrophy: From basic mechanisms to clinical implications. | 1-gen-2010 | Stefanini, M; Botta, E; Lanzafame, M; Orioli, D | |
| Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. | 1-gen-2009 | Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M. | |
| Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. | 1-gen-2007 | Botta E; Offman J; Nardo T; Ricotti R; Zambruno G; Sansone D; Balestri P; Raams A; Kleijer WJ; Jaspers NG; Sarasin A; Lehmann AR; Stefanini M. | |
| Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne Syndrome. | 1-gen-2005 | Theron T.; Fousteri M.I.; Volker M.; Harries L.W.; Botta E.; Stefanini M.; Fujimoto M.; Andressoo J.; Mitchell J.; Jaspers N.G.J.; McDaniel L.D.; Mullenders L.;Lehmann A.R. | |
| Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. | 1-gen-2005 | Fujimoto, M; Leech, Sn; Theron, T; Mori, M; Fawcett, H; Botta, E; Nozaki, Y; Yamagata, T; Moriwaki, S; Stefanini, M; Momoi, My; Nakagawa, H; Shuster, S; Moss, C; Lehmann, Ar | |
| A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A | 1-gen-2004 | Gigliamari, G; Coin, F; Ranish, Aj; Hoogstraten, D; Theil, A; Wijgers, N; Jaspers, Ngj; Raams, A; Argentini, M; van der Spek, Pj; Botta, E; Stefanini, M; Egly, Jm; Aebersold, R; Hoeijmakers, Jhj; Vermeulen, W |