CNR Institutional Research Information System

NARDO, TIZIANA
 Distribuzione geografica
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Continente #
NA - Nord America 278
AS - Asia 202
EU - Europa 1
Totale 481
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Nazione #
US - Stati Uniti d'America 278
SG - Singapore 196
KR - Corea 4
CN - Cina 2
IT - Italia 1
Totale 481
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Città #
Santa Clara 246
Singapore 147
Ashburn 4
Seoul 4
Forest City 2
Springfield 2
Florence 1
Prineville 1
Totale 407
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Nome #
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 12
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 6
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 5
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 5
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 5
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 5
Fate of the repair/transcription complex TFIIH in human mitotic cells. 5
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 5
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 5
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 5
Investigating the role of p300 and CBP in Nucleotide Excision Repair: interaction with NER factors. 5
PCNA acetylation by CBP/p300 links its degradation to DNA repair synthesis 5
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack 5
CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis 5
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation 5
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 5
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product 5
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 5
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. 5
A damaged DNA binding protein 2 mutation disrupting interaction with proliferating-cell nuclear antigen affects DNA repair and confers proliferation advantage 5
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 5
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 5
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 5
Chromosomal instability and telomere length variations during the life span of human fibroblast clones. 4
Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts from patients with trichothiodystrophy. 4
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity 4
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 4
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 4
Riparazione del DNA e Malattie ereditarie. 4
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 4
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 4
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 4
New patient material. 4
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 4
Expression of TTDN1 in different cell types from patients affected by trichothiodystrophy. 4
Altered collagen VI transcription in primary fibroblasts from patients with trichothiodystrophy reveals a new role of TFIIH in transcription derepression 4
CBP/p300-mediated acetylation of PCNA is required for its chromatin removal and degradation in nucleotide excision repair 4
Riparazione del DNA e Malattie ereditarie 4
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity 4
Profili di espressione genica in pazienti con mutazioni nel gene XPD. 4
The reduced levels of the repair/transcription factor TFIIH in trichothiodystrophy are not due to instability of the mutated XPD transcript. 4
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 4
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 4
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 4
UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients 4
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 4
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia 4
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 4
p8/TTD-A as a repair-specific TFIIH subunit. 4
L approccio dei microarray per lo studio dei difetti trascrizionali nella tricotiodistrofia. 4
Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes. 4
A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma 4
Phenotypic reversion of human keratinocytes from a patient suffering from Cockayne syndrome. 4
Phenotypic reversion of human keratinocytes from a patient suffering from Cockayne syndrome 4
From laboratory tests to functional characterisation of Cockayne syndrome 4
Effects of mutations on the functionality of the CSA protein. 4
CS-B patients with unusual clinical features. 4
New patient material. 4
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 4
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 4
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene 4
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 4
Micro-array analysis in trichothiodystrophy. 4
Genetic, molecular and functional characterization of Cockayne syndrome, a rare transcription/repair defective hereditary disease 4
Relationships between the general transcription factor TFIIE and the transcription/repair complex TFIIH 4
p300/CBP acetyl transferases interact with and acetylate the nucleotide excision repair factor XPG. 4
Deficiencies in DNA repair and transcription in patients affected by trichothiodystrophy 4
Functional alterations in trichothiodystrophy. 4
XPD and cell cycle progression. 4
The acetyltranferases p300/CBP interact with, and acetylate XPG protein in nucleotide excision repair. 4
Insights into the general transcription factor TFIIE. 4
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 4
Functional alterations in trichothiodystrophy: Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts 3
New patient material 3
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 3
Analysis of the functional domains of the CSA protein. 3
Two new patients with the mild form of Cockayne syndrome and mutations in the CSB gene. 3
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 3
Telomeric fusions in cultured human fibroblasts as a source of genomic instability 3
Micro-array analysis in trichothiodystrophy. 3
Analysis of the functional domains of the CSA protein 3
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 3
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 3
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 3
Aspetti clinici e molecolari della tricotiodistrofia 3
Functional alterations in trichothiodystrophy. 3
Analisi delle cause che determinano un ridotto livello cellulare del complesso di riparazione/trascrizione TFIIH nei pazienti con Tricotiodistrofia mutati nel gene XPD. 3
Funzioni difettive nella tricotiodistrofia. 3
Tricotiodistrofia e difetti nel differenziamento epidermico 3
Alterazioni trascrizionali associate a mutazioni in XPD 3
Micro-array analysis in trichothiodystrophy. 3
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 3
Difetti trascrizionali nella tricotiodistrofia 3
Basis of the puzzling variety of the clinical features of NER defective disorders 3
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 3
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 3
Genetic analysis of twenty-two patients with Cockayne syndrome 3
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 3
Micro-array analysis in trichothiodystrophy. 3
Complexity of the clinical outcomes of inborn defects in nucleotide-excision repair 3
Totale 403
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Categoria #
all - tutte 2.639
article - articoli 975
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.614
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20246 0 0 0 0 0 0 0 0 1 0 4 1
2024/2025475 5 5 146 83 236 0 0 0 0 0 0 0
Totale 481