CNR Institutional Research Information System

BOTTA, ELENA
 Distribuzione geografica
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Continente #
AS - Asia 2.131
NA - Nord America 1.856
SA - Sud America 512
EU - Europa 402
AF - Africa 51
Continente sconosciuto - Info sul continente non disponibili 27
OC - Oceania 5
Totale 4.984
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Nazione #
US - Stati Uniti d'America 1.772
SG - Singapore 951
CN - Cina 413
BR - Brasile 405
VN - Vietnam 268
HK - Hong Kong 199
FR - Francia 135
IT - Italia 85
KR - Corea 80
JP - Giappone 53
BD - Bangladesh 44
CA - Canada 43
DE - Germania 34
GB - Regno Unito 33
IN - India 32
AR - Argentina 31
NL - Olanda 28
CO - Colombia 20
EC - Ecuador 16
VE - Venezuela 16
MX - Messico 15
FI - Finlandia 14
TR - Turchia 13
ZA - Sudafrica 13
ID - Indonesia 12
IE - Irlanda 10
IL - Israele 10
EG - Egitto 8
MA - Marocco 8
UA - Ucraina 8
AT - Austria 7
IQ - Iraq 7
RU - Federazione Russa 7
UZ - Uzbekistan 7
CL - Cile 6
CR - Costa Rica 6
ES - Italia 6
JM - Giamaica 6
PE - Perù 6
SE - Svezia 6
CH - Svizzera 5
KE - Kenya 5
MY - Malesia 5
NP - Nepal 5
PL - Polonia 5
PY - Paraguay 5
UY - Uruguay 5
AU - Australia 4
HN - Honduras 4
PH - Filippine 4
CI - Costa d'Avorio 3
GR - Grecia 3
JO - Giordania 3
TH - Thailandia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BE - Belgio 2
BJ - Benin 2
BO - Bolivia 2
CY - Cipro 2
DZ - Algeria 2
ET - Etiopia 2
GT - Guatemala 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
LY - Libia 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
MD - Moldavia 1
MM - Myanmar 1
MQ - Martinica 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
PA - Panama 1
QA - Qatar 1
RO - Romania 1
SC - Seychelles 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 4.957
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Città #
Santa Clara 757
Singapore 552
Hong Kong 197
Hefei 187
San Jose 142
Lauterbourg 116
Ho Chi Minh City 103
Ashburn 92
Seoul 79
Dallas 72
Hanoi 70
Beijing 55
Los Angeles 54
Tokyo 38
New York 37
São Paulo 30
Pavia 27
Phoenix 19
Frankfurt am Main 17
Rio de Janeiro 17
Haiphong 15
Toronto 15
Council Bluffs 14
Buffalo 12
Milan 10
Minamishinagawa 10
Brooklyn 9
Dublin 9
Helsinki 9
Houston 9
Chicago 8
Curitiba 8
London 8
The Dalles 8
Johannesburg 7
Montreal 7
Tashkent 7
Bengaluru 6
Charlotte 6
Chennai 6
Da Nang 6
Newark 6
Philadelphia 6
Vienna 6
Biên Hòa 5
Bogotá 5
Brasília 5
Campina Grande 5
Cape Town 5
Denver 5
Guayaquil 5
Montevideo 5
Orem 5
Rome 5
Stockholm 5
Campinas 4
Caracas 4
Düsseldorf 4
Fortaleza 4
Guarulhos 4
Hyderabad 4
Hải Dương 4
Kingston 4
Knoxville 4
Lappeenranta 4
Las Vegas 4
Lima 4
Mumbai 4
Ottawa 4
Queens 4
Ramona 4
Sacramento 4
Sorocaba 4
São Luís 4
Washington 4
Abidjan 3
Ankara 3
Aomori 3
Asunción 3
Athens 3
Austin 3
Bagé 3
Cairo 3
Canoas 3
Catanduva 3
Dhaka 3
Franca 3
Goiânia 3
Hoàng Mai 3
Hyattsville 3
Indianapolis 3
Kuala Lumpur 3
Lincoln 3
Londrina 3
Manaus 3
Manchester 3
Maracaibo 3
Medellín 3
Nairobi 3
Naples 3
Totale 3.078
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Nome #
From laboratory tests to functional characterisation of Cockayne syndrome 118
Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy 106
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 100
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 99
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 97
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 94
Multifaceted involvement of the CSA protein in the removal of DNA damage 93
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 91
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype 75
Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy 73
Heterogeneity and overlaps in nucleotide excision repair disorders 71
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 70
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene 70
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 69
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 69
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 64
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 64
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 62
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 62
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 61
Analisi dei domini funzionali di CSA 60
Riparazione del DNA e Malattie ereditarie 57
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 57
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 56
Multifaceted involvement of the CSA protein in the removal of DNA damage. 54
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 49
xeroderma pigmentosum 49
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 48
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 48
Structure-function analysis of the CSA gene. 48
Multifaceted involvement of the CSA protein in the removal of DNA damage. 47
New patient material 46
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 46
Trichothiodystrophy: From basic mechanisms to clinical implications. 45
CSA protein and oxidative DNA damage repair. 43
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 43
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 42
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 40
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 39
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 39
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 39
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 39
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 38
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 38
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 38
From clinical features to molecular defects: lack of clear genotype-phenotype relationships in Cockayne syndrome. 37
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 37
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 37
NOVEL CHINESE-HAMSTER ULTRAVIOLET-SENSITIVE MUTANTS FOR EXCISION REPAIR FORM COMPLEMENTATION GROUP-9 AND GROUP-10 37
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 37
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 37
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 36
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. 35
GENETIC-HETEROGENEITY OF THE EXCISION REPAIR DEFECT ASSOCIATED WITH TRICHOTHIODYSTROPHY 35
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 34
Micro-array analysis in trichothiodystrophy. 33
Funzioni difettive nella tricotiodistrofia. 33
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene 33
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 33
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 33
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 33
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 33
Aspetti clinici e molecolari della tricotiodistrofia 32
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 32
L approccio dei microarray per lo studio dei difetti trascrizionali nella tricotiodistrofia. 32
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne Syndrome. 32
New patient material. 32
Two novel mutations in XPD associated with trichothiodystrophy result in temperature-dependent dysfunction of the transcription/repair complex TFIIH 32
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A 32
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 31
Functional alterations in trichothiodystrophy. 31
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 31
Apoptosis and efficient repair of DNA damage protect human keratinocytes against UVB. 31
New patient material. 31
Two new patients with the mild form of Cockayne syndrome and mutations in the CSB gene. 30
Analysis of the functional domains of the CSA protein 30
Expression of TTDN1 in different cell types from patients affected by trichothiodystrophy. 30
Genetic and Epigenetic Control of Genome Stability 30
The reduced levels of the repair/transcription factor TFIIH in trichothiodystrophy are not due to instability of the mutated XPD transcript. 30
Basis of the puzzling variety of the clinical features of NER defective disorders 30
Involvement of the TTDN1 gene in the non-photosensitive form of trichothiodystrophy. 30
Genetic, molecular and functional characterization of Cockayne syndrome, a rare transcription/repair defective hereditary disease 30
Alterazioni trascrizionali associate a mutazioni in XPD 29
Micro-array analysis in trichothiodystrophy. 29
Profili di espressione genica in pazienti con mutazioni nel gene XPD. 29
IDENTIFICATION OF THE 11TH COMPLEMENTATION GROUP OF UV-SENSITIVE EXCISION REPAIR-DEFECTIVE RODENT MUTANTS 28
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 28
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells 28
A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity 28
New patient material. 27
Altered collagen VI transcription in primary fibroblasts from patients with trichothiodystrophy reveals a new role of TFIIH in transcription derepression 27
Genetic analysis of twenty-two patients with Cockayne syndrome 27
Complexity of the clinical outcomes of inborn defects in nucleotide-excision repair 27
Cellular and genetic studies in three UV-sensitive Chinese hamster mutants 27
XPD and cell cycle progression. 27
Micro-array analysis in trichothiodystrophy. 27
Functional alterations in trichothiodystrophy. 27
Analysis of the functional domains of the CSA protein. 26
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 26
Alterations in skin cell/tissue differentiation in trichothiodystrophy 26
Totale 4.461
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Categoria #
all - tutte 17.158
article - articoli 6.049
book - libri 165
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 23.372
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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
2026/2027527 147 117 263 0 0 0 0 0 0 0 0 0
Totale 4.984