CNR Institutional Research Information System

BOTTA, ELENA
 Distribuzione geografica
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Continente #
AS - Asia 2.074
NA - Nord America 1.387
SA - Sud America 483
EU - Europa 361
AF - Africa 47
OC - Oceania 5
Totale 4.357
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Nazione #
US - Stati Uniti d'America 1.334
SG - Singapore 948
CN - Cina 412
BR - Brasile 395
VN - Vietnam 262
HK - Hong Kong 199
FR - Francia 131
KR - Corea 80
IT - Italia 56
JP - Giappone 53
DE - Germania 34
IN - India 32
GB - Regno Unito 31
AR - Argentina 30
CA - Canada 28
NL - Olanda 28
MX - Messico 15
BD - Bangladesh 14
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
PY - Paraguay 5
UY - Uruguay 5
AU - Australia 4
ES - Italia 4
KE - Kenya 4
NP - Nepal 4
PL - Polonia 4
CH - Svizzera 3
GR - Grecia 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
CR - Costa Rica 2
CY - Cipro 2
DZ - Algeria 2
ET - Etiopia 2
GT - Guatemala 2
HN - Honduras 2
JM - Giamaica 2
JO - Giordania 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
MY - Malesia 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
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
NZ - Nuova Zelanda 1
PH - Filippine 1
RO - Romania 1
Totale 4.357
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Città #
Santa Clara 755
Singapore 551
Hong Kong 197
Hefei 187
Lauterbourg 116
Ho Chi Minh City 99
San Jose 98
Seoul 79
Dallas 69
Hanoi 69
Ashburn 66
Beijing 55
Los Angeles 49
Tokyo 38
New York 31
São Paulo 29
Pavia 27
Frankfurt am Main 17
Rio de Janeiro 17
Haiphong 15
Toronto 14
Buffalo 10
Minamishinagawa 10
Council Bluffs 9
Dublin 9
Helsinki 9
Curitiba 8
London 8
Phoenix 8
Johannesburg 7
Tashkent 7
Bengaluru 6
Chennai 6
Da Nang 6
Vienna 6
Biên Hòa 5
Brasília 5
Campina Grande 5
Cape Town 5
Chicago 5
Milan 5
Montevideo 5
Montreal 5
Orem 5
Stockholm 5
Caracas 4
Düsseldorf 4
Fortaleza 4
Guarulhos 4
Guayaquil 4
Hyderabad 4
Hải Dương 4
Lappeenranta 4
Lima 4
Mumbai 4
Newark 4
Ottawa 4
Sorocaba 4
São Luís 4
Ankara 3
Aomori 3
Asunción 3
Athens 3
Bagé 3
Bogotá 3
Cairo 3
Campinas 3
Canoas 3
Catanduva 3
Franca 3
Goiânia 3
Hoàng Mai 3
Londrina 3
Manaus 3
Maracaibo 3
Medellín 3
Nha Trang 3
Osasco 3
Piracicaba 3
Piscataway 3
Quận Bình Thạnh 3
Rabat 3
Recife 3
Salvador 3
Sydney 3
Taiyuan 3
Tianjin 3
Uberlândia 3
Vũng Tàu 3
Warsaw 3
Abidjan 2
Addis Ababa 2
Alexandria 2
Amman 2
Amsterdam 2
Ananindeua 2
Aracaju 2
Baku 2
Bauru 2
Belo Horizonte 2
Totale 2.906
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Nome #
From laboratory tests to functional characterisation of Cockayne syndrome 110
Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy 97
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 90
Multifaceted involvement of the CSA protein in the removal of DNA damage 89
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 89
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 88
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 83
Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy 68
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 67
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 66
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype 65
Heterogeneity and overlaps in nucleotide excision repair disorders 65
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene 61
Analisi dei domini funzionali di CSA 56
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 56
Riparazione del DNA e Malattie ereditarie 55
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 54
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 53
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 53
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 51
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 51
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 50
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 49
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 47
Multifaceted involvement of the CSA protein in the removal of DNA damage. 46
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 45
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 44
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 44
Multifaceted involvement of the CSA protein in the removal of DNA damage. 43
New patient material 42
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 42
Structure-function analysis of the CSA gene. 42
xeroderma pigmentosum 41
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 38
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
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 36
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 36
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 35
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 35
Trichothiodystrophy: From basic mechanisms to clinical implications. 35
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 35
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 35
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 34
NOVEL CHINESE-HAMSTER ULTRAVIOLET-SENSITIVE MUTANTS FOR EXCISION REPAIR FORM COMPLEMENTATION GROUP-9 AND GROUP-10 34
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 33
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 32
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 32
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 32
GENETIC-HETEROGENEITY OF THE EXCISION REPAIR DEFECT ASSOCIATED WITH TRICHOTHIODYSTROPHY 32
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 32
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 32
Micro-array analysis in trichothiodystrophy. 31
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 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
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 29
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 29
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. 29
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 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
L approccio dei microarray per lo studio dei difetti trascrizionali nella tricotiodistrofia. 29
Basis of the puzzling variety of the clinical features of NER defective disorders 28
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene 28
Apoptosis and efficient repair of DNA damage protect human keratinocytes against UVB. 28
Involvement of the TTDN1 gene in the non-photosensitive form of trichothiodystrophy. 28
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 28
Functional alterations in trichothiodystrophy. 27
Expression of TTDN1 in different cell types from patients affected by trichothiodystrophy. 27
Funzioni difettive nella tricotiodistrofia. 27
Genetic and Epigenetic Control of Genome Stability 27
The reduced levels of the repair/transcription factor TFIIH in trichothiodystrophy are not due to instability of the mutated XPD transcript. 27
New patient material. 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
Micro-array analysis in trichothiodystrophy. 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
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
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 25
A CHO mutant, UV40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity 25
New patient material. 25
Two novel mutations in XPD associated with trichothiodystrophy result in temperature-dependent dysfunction of the transcription/repair complex TFIIH 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
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
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 23
Insights into genotype-phenotype relationships in the repair/transcription syndrome trichothiodystrophy 23
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells 23
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne Syndrome. 23
Effects of mutations on the functionality of the CSA protein. 23
Micro-array analysis in trichothiodystrophy. 23
Totale 3.936
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Categoria #
all - tutte 13.993
article - articoli 4.859
book - libri 139
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 18.991
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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
2025/20262.373 100 365 242 398 469 74 296 135 132 113 49 0
Totale 4.384