CNR Institutional Research Information System

ORIOLI, DONATA

ORIOLI, DONATA  

Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"  

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Titolo Data di pubblicazione Autore(i) File
Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy 1-gen-2023 Zhu, G; Khalid, F; Zhang, D; Cao, Z; Maity, P; Kestler, Ha; Orioli, D; Scharffetterkochanek, K; Iben, S
TFIIH mutations can impact on translational fidelity of the ribosome 1-gen-2023 Khalid F; Phan T; Qiang M; Maity P; Lasser T; Wiese S; Penzo M; Alupei M; Orioli D; ScharffetterKochanek K; Iben S.
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 group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation 1-gen-2021 Lanzafame M; Branca G; Landi C; Qiang M; Vaz B; Nardo T; Ferri D; Mura M; Iben S; Stefanini M; Peverali FA; Bini L; Orioli D.
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
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
Epigenetic Regulation of Skin Cells in Natural Aging and Premature Aging Diseases 1-gen-2018 Orioli, D; Dellambra, E
From Structure to Phenotype: Impact of Collagen Alterations on Human Health 1-gen-2018 Arseni L; Lombardi A; 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.
Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer 1-gen-2017 Khouzam, Ra; Molinari, C; Salvi, S; Marabelli, M; Molinaro, V; Orioli, D; Saragoni, L; Morgagni, P; Calistri, D; Ranzani, Gn
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
Studies on the ATP Binding Site of Fyn Kinase for the Identification of New Inhibitors and Their Evaluation as Potential Agents against Tauopathies and Tumors 1-gen-2015 Tintori C; La Sala G; Vignaroli G; Botta L; Fallacara AL; Falchi F; Radi M; Zamperini C; Dreassi E; Dello Iacono L; Orioli D; Biamonti G; Garbelli M; Lossani A; Gasparrini F; Tuccinardi T; Laurenzana I; Angelucci A; Maga G; Schenone S; Brullo C; Musumeci F; Desogus A; Crespan E; Botta M.