CNR Institutional Research Information System

BOTTA, ELENA
 Distribuzione geografica
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Continente #
AS - Asia 2.103
NA - Nord America 1.523
SA - Sud America 485
EU - Europa 376
AF - Africa 47
OC - Oceania 5
Totale 4.539
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Nazione #
US - Stati Uniti d'America 1.459
SG - Singapore 949
CN - Cina 412
BR - Brasile 396
VN - Vietnam 264
HK - Hong Kong 199
FR - Francia 132
KR - Corea 80
IT - Italia 69
JP - Giappone 53
BD - Bangladesh 39
DE - Germania 34
IN - India 32
AR - Argentina 31
CA - Canada 31
GB - Regno Unito 31
NL - Olanda 28
MX - Messico 15
FI - Finlandia 14
EC - Ecuador 13
ZA - Sudafrica 13
TR - Turchia 12
VE - Venezuela 11
CO - Colombia 10
IE - Irlanda 10
IL - Israele 10
ID - Indonesia 9
EG - Egitto 8
MA - Marocco 8
AT - Austria 7
IQ - Iraq 7
RU - Federazione Russa 7
UA - Ucraina 7
UZ - Uzbekistan 7
CL - Cile 6
PE - Perù 6
SE - Svezia 6
JM - Giamaica 5
PL - Polonia 5
PY - Paraguay 5
UY - Uruguay 5
AU - Australia 4
CR - Costa Rica 4
ES - Italia 4
KE - Kenya 4
NP - Nepal 4
CH - Svizzera 3
GR - Grecia 3
MY - Malesia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BE - Belgio 2
BJ - Benin 2
BO - Bolivia 2
CI - Costa d'Avorio 2
CY - Cipro 2
DZ - Algeria 2
ET - Etiopia 2
GT - Guatemala 2
HN - Honduras 2
JO - Giordania 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
NG - Nigeria 2
OM - Oman 2
PK - Pakistan 2
PT - Portogallo 2
SA - Arabia Saudita 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
CU - Cuba 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
EE - Estonia 1
HR - Croazia 1
KG - Kirghizistan 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LY - Libia 1
MD - Moldavia 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
PH - Filippine 1
RO - Romania 1
TT - Trinidad e Tobago 1
Totale 4.539
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Città #
Santa Clara 756
Singapore 551
Hong Kong 197
Hefei 187
Lauterbourg 116
San Jose 108
Ho Chi Minh City 101
Seoul 79
Ashburn 76
Dallas 71
Hanoi 69
Beijing 55
Los Angeles 51
Tokyo 38
New York 32
São Paulo 29
Pavia 27
Frankfurt am Main 17
Rio de Janeiro 17
Haiphong 15
Toronto 15
Buffalo 11
Minamishinagawa 10
Council Bluffs 9
Dublin 9
Helsinki 9
Phoenix 9
Brooklyn 8
Curitiba 8
London 8
Johannesburg 7
Milan 7
Tashkent 7
Bengaluru 6
Chennai 6
Da Nang 6
Montreal 6
Vienna 6
Biên Hòa 5
Brasília 5
Campina Grande 5
Cape Town 5
Chicago 5
Montevideo 5
Newark 5
Orem 5
Stockholm 5
Campinas 4
Caracas 4
Düsseldorf 4
Fortaleza 4
Guarulhos 4
Guayaquil 4
Hyderabad 4
Hải Dương 4
Lappeenranta 4
Lima 4
Mumbai 4
Ottawa 4
Ramona 4
Rome 4
Sorocaba 4
São Luís 4
The Dalles 4
Ankara 3
Aomori 3
Asunción 3
Athens 3
Bagé 3
Bogotá 3
Cairo 3
Canoas 3
Catanduva 3
Charlotte 3
Franca 3
Goiânia 3
Houston 3
Hoàng Mai 3
Kingston 3
Las Vegas 3
Lincoln 3
Londrina 3
Manaus 3
Manchester 3
Maracaibo 3
Medellín 3
Nha Trang 3
Osasco 3
Piracicaba 3
Piscataway 3
Quận Bình Thạnh 3
Rabat 3
Recife 3
Salvador 3
San José 3
Sydney 3
Taiyuan 3
Tianjin 3
Turin 3
Uberlândia 3
Totale 2.960
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Nome #
From laboratory tests to functional characterisation of Cockayne syndrome 115
Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy 101
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 94
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 93
Multifaceted involvement of the CSA protein in the removal of DNA damage 90
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 89
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 88
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 81
Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy 68
Heterogeneity and overlaps in nucleotide excision repair disorders 68
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 67
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype 67
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 66
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene 64
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 59
Analisi dei domini funzionali di CSA 58
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 58
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 58
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 58
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 55
Riparazione del DNA e Malattie ereditarie 55
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 54
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 53
Multifaceted involvement of the CSA protein in the removal of DNA damage. 50
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 47
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 47
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 45
Multifaceted involvement of the CSA protein in the removal of DNA damage. 45
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 44
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 44
Structure-function analysis of the CSA gene. 44
xeroderma pigmentosum 44
New patient material 43
CSA protein and oxidative DNA damage repair. 40
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 39
Trichothiodystrophy: From basic mechanisms to clinical implications. 38
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 38
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 38
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 37
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 37
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 37
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 36
From clinical features to molecular defects: lack of clear genotype-phenotype relationships in Cockayne syndrome. 36
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 36
NOVEL CHINESE-HAMSTER ULTRAVIOLET-SENSITIVE MUTANTS FOR EXCISION REPAIR FORM COMPLEMENTATION GROUP-9 AND GROUP-10 36
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 35
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 35
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 34
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 34
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 34
GENETIC-HETEROGENEITY OF THE EXCISION REPAIR DEFECT ASSOCIATED WITH TRICHOTHIODYSTROPHY 34
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 34
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 32
Micro-array analysis in trichothiodystrophy. 31
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene 31
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. 31
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 31
L approccio dei microarray per lo studio dei difetti trascrizionali nella tricotiodistrofia. 31
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 30
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 30
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 30
Two new patients with the mild form of Cockayne syndrome and mutations in the CSB gene. 29
Analysis of the functional domains of the CSA protein 29
Aspetti clinici e molecolari della tricotiodistrofia 29
Functional alterations in trichothiodystrophy. 29
Funzioni difettive nella tricotiodistrofia. 29
The reduced levels of the repair/transcription factor TFIIH in trichothiodystrophy are not due to instability of the mutated XPD transcript. 29
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 29
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 29
Apoptosis and efficient repair of DNA damage protect human keratinocytes against UVB. 29
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 29
Basis of the puzzling variety of the clinical features of NER defective disorders 28
Involvement of the TTDN1 gene in the non-photosensitive form of trichothiodystrophy. 28
New patient material. 28
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 28
Expression of TTDN1 in different cell types from patients affected by trichothiodystrophy. 27
Micro-array analysis in trichothiodystrophy. 27
Genetic and Epigenetic Control of Genome Stability 27
New patient material. 27
Two novel mutations in XPD associated with trichothiodystrophy result in temperature-dependent dysfunction of the transcription/repair complex TFIIH 27
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A 27
Alterazioni trascrizionali associate a mutazioni in XPD 26
Profili di espressione genica in pazienti con mutazioni nel gene XPD. 26
Cellular and genetic studies in three UV-sensitive Chinese hamster mutants 26
XPD and cell cycle progression. 26
A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity 26
New patient material. 25
Altered collagen VI transcription in primary fibroblasts from patients with trichothiodystrophy reveals a new role of TFIIH in transcription derepression 25
IDENTIFICATION OF THE 11TH COMPLEMENTATION GROUP OF UV-SENSITIVE EXCISION REPAIR-DEFECTIVE RODENT MUTANTS 25
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells 25
Micro-array analysis in trichothiodystrophy. 25
Genetic, molecular and functional characterization of Cockayne syndrome, a rare transcription/repair defective hereditary disease 25
Analysis of the functional domains of the CSA protein. 24
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 24
Genetic analysis of twenty-two patients with Cockayne syndrome 24
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 24
Alterations in skin cell/tissue differentiation in trichothiodystrophy 24
CS-B patients with unusual clinical features. 24
Analisi delle cause che determinano un ridotto livello cellulare del complesso di riparazione/trascrizione TFIIH nei pazienti con Tricotiodistrofia mutati nel gene XPD. 23
Complexity of the clinical outcomes of inborn defects in nucleotide-excision repair 23
Totale 4.111
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Categoria #
all - tutte 15.324
article - articoli 5.391
book - libri 153
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.868
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202411 0 0 0 0 0 0 0 0 1 1 6 3
2024/20252.000 6 6 130 68 661 145 4 103 72 48 396 361
2025/20262.446 100 365 242 398 469 74 296 135 132 113 68 54
2026/2027109 109 0 0 0 0 0 0 0 0 0 0 0
Totale 4.566