CNR Institutional Research Information System

STEFANINI, MIRIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.246
AS - Asia 360
EU - Europa 33
Totale 1.639
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.246
SG - Singapore 352
FI - Finlandia 17
IT - Italia 10
KR - Corea 4
CN - Cina 3
DE - Germania 2
SE - Svezia 2
GB - Regno Unito 1
JP - Giappone 1
NL - Olanda 1
Totale 1.639
Salva come PNG Salva come JPEG
Città #
Santa Clara 1.177
Singapore 255
Helsinki 17
Ashburn 4
Pavia 4
Seoul 4
Forest City 3
Phoenix 3
Falkenstein 2
Fauglia 2
Rome 2
Springfield 2
Florence 1
London 1
Prineville 1
Tokyo 1
Totale 1.479
Salva come PNG Salva come JPEG
Nome #
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 29
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation 15
Malattie genetiche rare che predispongono ai tumori 13
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 12
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 12
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 12
Definizione del duplice ruolo nella riparazione e nella trascrizione di geni la cui alterazione è responsabile di una complessa triade di malattie ereditarie 12
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. 12
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 11
Mitochondrial dysfunction and oxidative stress play a causal role in the metabolic impairment observed in primary fibroblasts from Cockayne syndrome patients 11
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 11
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 11
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 11
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack 11
TTD transcriptional defects are responsible for extracellular matrix alterations 11
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 11
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 11
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin 11
Extracellular matrix defects in trichothiodystrophy 11
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 11
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 11
Multifaceted involvement of the CSA protein in the removal of DNA damage. 11
Multifaceted involvement of the CSA protein in the removal of DNA damage 10
Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network 10
Pathogenomics of hereditary disorders defective in DNA repair and transcription 10
Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts from patients with trichothiodystrophy. 10
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome 10
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity 10
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 10
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 10
Fate of the repair/transcription complex TFIIH in human mitotic cells. 10
Analisi dei domini funzionali di CSA 10
The role of CSA in the response to oxidative DNA damage in human cells. 10
New patient material. 10
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 10
Altered collagen VI transcription in primary fibroblasts from patients with trichothiodystrophy reveals a new role of TFIIH in transcription derepression 10
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. 10
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. 10
Transcriptional alterations in trichotiodystrophy affect different components of the extracellular matrix 10
TFIIH-mutated cells as a model system to dissect the multiple roles of TFIIH in chromatin dynamics 10
CSA protein and oxidative DNA damage repair. 10
Cellular and genetic studies in three UV-sensitive Chinese hamster mutants 10
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia 10
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 10
A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity 10
From laboratory tests to functional characterisation of Cockayne syndrome 10
New patient material. 10
Multifaceted involvement of the CSA protein in the removal of DNA damage. 10
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 10
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 10
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 10
Rac3-induced neuritogenesis requires binding to Neurabin I. 10
Activation-inactivation of ADPRT of mammalian cells exposed to DNA damaging agents. 9
Does CSA play a role in mitochondrial quality control? 9
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 9
Analysis of the functional domains of the CSA protein. 9
Two new patients with the mild form of Cockayne syndrome and mutations in the CSB gene. 9
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 9
From clinical features to molecular defects: lack of clear genotype-phenotype relationships in Cockayne syndrome. 9
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 9
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 9
Xeroderma pigmentosum 9
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 9
Micro-array analysis in trichothiodystrophy. 9
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 9
Analysis of the functional domains of the CSA protein 9
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 9
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 9
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 9
Aspetti clinici e molecolari della tricotiodistrofia 9
Functional alterations in trichothiodystrophy. 9
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 9
Expression of TTDN1 in different cell types from patients affected by trichothiodystrophy. 9
Funzioni difettive nella tricotiodistrofia. 9
Riparazione del DNA e Malattie ereditarie 9
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions 9
Micro-array analysis in trichothiodystrophy. 9
Does CSA play a role in mitochondrial quality control? 9
Difetti trascrizionali nella tricotiodistrofia 9
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 9
Profili di espressione genica in pazienti con mutazioni nel gene XPD. 9
The reduced levels of the repair/transcription factor TFIIH in trichothiodystrophy are not due to instability of the mutated XPD transcript. 9
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 9
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 9
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 9
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 9
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. 9
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 9
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 9
UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients 9
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 9
The role of mitochondrial dysfunction in Cockayne Syndrome 9
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 9
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 9
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 9
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 9
Trichothiodystrophy with normal DNA repair efficiency and mutations in the TTDN1 gene. 9
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 9
Structure-function analysis of the CSA gene. 9
Trichothiodystrophy, a disorder highlighting the crosstalk between DNA repair and transcription. 9
Totale 1.003
Salva come PNG Salva come JPEG
Categoria #
all - tutte 6.850
article - articoli 2.633
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 275
Totale 9.758
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202412 0 0 0 0 0 0 0 0 6 0 4 2
2024/20251.642 8 16 259 163 1.026 170 0 0 0 0 0 0
Totale 1.654