IRIS
ESPOSITO, GABRIELLA
 Distribuzione geografica
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Continente #
NA - Nord America 3.690
AS - Asia 3.519
EU - Europa 3.259
SA - Sud America 392
Continente sconosciuto - Info sul continente non disponibili 172
AF - Africa 93
OC - Oceania 1
Totale 11.126
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Nazione #
US - Stati Uniti d'America 3.537
SG - Singapore 1.608
IT - Italia 1.121
RU - Federazione Russa 1.094
CN - Cina 683
VN - Vietnam 604
BR - Brasile 319
HK - Hong Kong 231
DE - Germania 179
FR - Francia 152
NL - Olanda 142
UA - Ucraina 137
FI - Finlandia 133
GB - Regno Unito 101
CA - Canada 77
BD - Bangladesh 73
IN - India 66
JP - Giappone 63
IE - Irlanda 53
MX - Messico 45
SE - Svezia 30
KR - Corea 28
AR - Argentina 27
PL - Polonia 27
ZA - Sudafrica 24
CI - Costa d'Avorio 22
IQ - Iraq 22
ES - Italia 18
AT - Austria 16
CH - Svizzera 16
PH - Filippine 16
EC - Ecuador 15
TH - Thailandia 15
ID - Indonesia 14
MA - Marocco 11
TR - Turchia 11
BE - Belgio 10
KE - Kenya 10
PK - Pakistan 10
CO - Colombia 8
CR - Costa Rica 8
IR - Iran 8
JM - Giamaica 8
TW - Taiwan 7
UZ - Uzbekistan 7
VE - Venezuela 7
LT - Lituania 6
AE - Emirati Arabi Uniti 5
CL - Cile 5
KZ - Kazakistan 5
AZ - Azerbaigian 4
DO - Repubblica Dominicana 4
EG - Egitto 4
IL - Israele 4
JO - Giordania 4
MY - Malesia 4
PY - Paraguay 4
RS - Serbia 4
SY - Repubblica araba siriana 4
CG - Congo 3
ET - Etiopia 3
LB - Libano 3
NP - Nepal 3
PE - Perù 3
RO - Romania 3
UY - Uruguay 3
AL - Albania 2
BG - Bulgaria 2
BH - Bahrain 2
BW - Botswana 2
GD - Grenada 2
GE - Georgia 2
GP - Guadalupe 2
MD - Moldavia 2
PS - Palestinian Territory 2
PT - Portogallo 2
SA - Arabia Saudita 2
SN - Senegal 2
TN - Tunisia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AD - Andorra 1
AO - Angola 1
AU - Australia 1
BB - Barbados 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BY - Bielorussia 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
EE - Estonia 1
EU - Europa 1
GA - Gabon 1
GM - Gambi 1
GN - Guinea 1
GT - Guatemala 1
HR - Croazia 1
KH - Cambogia 1
KW - Kuwait 1
Totale 10.939
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Città #
Singapore 742
San Jose 561
Ashburn 306
Chandler 292
Moscow 281
Hong Kong 216
Beijing 196
Ho Chi Minh City 156
Naples 156
Santa Clara 152
Hanoi 145
Napoli 132
Council Bluffs 122
Hefei 115
Jacksonville 109
Amsterdam 108
Los Angeles 98
Lauterbourg 85
Millbury 79
The Dalles 77
Boston 61
Princeton 58
Tokyo 57
Buffalo 56
New York 55
Rome 51
Nanjing 46
Dallas 43
Munich 42
Milan 41
Dong Ket 36
São Paulo 35
Frankfurt am Main 30
Helsinki 30
Des Moines 29
Da Nang 28
Denver 28
Wilmington 28
Redondo Beach 25
Turku 25
Lappeenranta 24
Atlanta 22
Houston 22
Seoul 22
Warsaw 21
Haiphong 20
Washington 20
Orem 19
Chennai 18
London 18
Mexico City 18
Phoenix 18
Lawrence 16
Montreal 16
Woodbridge 16
Chicago 15
Nuremberg 15
Ottawa 15
Bologna 14
Redwood City 14
Brooklyn 13
Düsseldorf 13
Cagliari 12
Caserta 12
San Francisco 12
Seattle 12
Tianjin 12
Baghdad 11
Boardman 11
Falkenstein 11
Manchester 11
Poplar 11
Ann Arbor 10
Catania 10
Changsha 10
Ercolano 10
Johannesburg 10
Kochi 10
Kronberg 10
Mumbai 10
Nanchang 10
Nola 10
Geneva 9
Hebei 9
Nocera Superiore 9
Palermo 9
Stockholm 9
Toronto 9
Turin 9
Bacoli 8
Florence 8
Shenyang 8
Thái Nguyên 8
Waanrode 8
Bari 7
Charlotte 7
Kunming 7
Nairobi 7
Norwalk 7
Philadelphia 7
Totale 5.681
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Nome #
DEGENERAZIONI RETINICHE EREDITARIE: GENETICA MOLECOLARE DELLE RETINITI PIGMENTOSE DOMINANTI E DELLA COROIDEREMIA 510
A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy. 200
Intranuclear Signaling Cascades Triggered by Nuclear GPCRs 186
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 181
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis 172
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. 169
Formyl-peptide receptor 2 signalling triggers aerobic metabolism of glucose through Nox2-dependent modulation of pyruvate dehydrogenase activity 168
14-3-3 theta, a direct interactor of AF4, influences HOXA9 expression in RS4;11 leukemia cell line. 167
Formyl-Peptide Receptor 2 Signaling Modulates SLC7A11/xCT Expression and Activity in Tumor Cells 164
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child 156
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. 151
Phosphoproteomic analysis sheds light on intracellular signaling cascades triggered by Formyl-Peptide Receptor 2 151
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients 147
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 145
Identificazione di interattori proteici di AF4, partner di traslocazione del gene MLL (Mixed Lineage Leukaemia) nelle leucemie acute 142
Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation 142
14-3-3 θ over-expression increases both the cytosolic amount of AF4 and the expression levels of its target genes. 140
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss 140
Comprehensive molecular analysis of DMD gene increases the diagnostic value of dystrophinopathies: A pilot study in a southern Italy cohort of patients 140
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies 139
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing 139
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 135
A sporadic case of hemophilia A detected by RFLP analysis 135
A sporadic case of hemophilia A detected by RFLP analysis 134
MLL-AF4 oncoprotein up-regulates fibroblast growth factor receptor 2 (FGFR2) gene expression in hematopoietic progenitor cells 134
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab 133
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function 132
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 129
BBS1, BBS10 and BBS2 are major causative genes for Bardet-Biedl syndrome in Italian patients. 129
Pro-Resolving FPR2 Agonists Regulate NADPH Oxidase-Dependent Phosphorylation of HSP27, OSR1, and MARCKS and Activation of the Respective Upstream Kinases 129
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells 128
Formyl-Peptide Receptor 2 Signaling Redirects Glucose and Glutamine into Anabolic Pathways in Metabolic Reprogramming of Lung Cancer Cells 127
Formyl Peptide Receptor 2-Dependent cPLA2 and 5-LOX Activation Requires a Functional NADPH Oxidase 127
NOX2-Dependent Reactive Oxygen Species Regulate Formyl-Peptide Receptor 1-Mediated TrkA Transactivation in SH-SY5Y Cells 127
Transglutaminase 1 Gene Mutations in Italian Patients with Autosomal Recessive Lamellar Ichthyosis 126
Identification of two mutation within the transglutaminase 1 gene patients with lamellar ichthyosis. 126
Interaction with 14-3-3 θ reduces AF4 transactivation function by inhibiting its nuclear translocation 126
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML 124
Regulation of inflammation and oxidative stress by formyl peptide receptors in cardiovascular disease progression 124
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene 121
Hereditary fructose intolerance and celiac disease: a novel genetic association 120
Knockdown of the BBS10 Gene Product Affects Apical Targeting of AQP2 in Renal Cells: A Possible Explanation for the Polyuria Associated with Bardet-Biedl Syndrome 120
Analisi del ruolo di interattori molecolari AF4-specifici nella funzione aberrante dell’oncoproteina chimerica MLL-AF4 119
Characterization of the interactome of the proto-oncogene AF4 118
Molecular characterization of choroideremia-associated deletions reveals an unexpected regulation of CHM gene transcription 117
NOX Dependent ROS Generation and Cell Metabolism 116
Fisiopatologia molecolare di proteine coinvolte in pathways di regolazione genica cervello-specifica attraverso l'identificazione dei loro interattori macromolecolari 116
Protein network study of human AF4 reveals its central role in the RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms. 116
RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily 116
Rapid identification of beta-globin gene cluster mutations by a variety of PCR based procedures 115
Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells 115
Phosphorylation sites in protein kinases and phosphatases regulated by formyl peptide receptor 2 signaling 115
A study of aldolase B gene in patients with hereditary fructose intolerance 114
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene 112
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. 111
ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study 109
Regulation of the aldolase C gene expression and studies of the aldolase B molecular alterations causing hereditary fructose intolerance 108
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation 105
Posters 104
Analisi del ruolo funzionale di AF4, proteina coinvolta nella patogenesi molecolare della leucemia linfoblastica acuta, mediante l'identificazione di partners molecolari e geni target 102
A unique origin for the Sicilian (__)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. 101
Interleukin-1 receptor-associated kinase 1 (IRAK1) and Heat shock protein 90 kDa alpha B1 (HSP90) are up-regulated by AF4. 101
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure. 101
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion 100
Nuclear fgfr2 interacts with the mll-af4 oncogenic chimera and positively regulates hoxa9 gene expression in t(4;11) leukemia cells 100
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives 99
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient 99
Rod and cone-mediated function in choroideremia carriers with mutations in the REP-1 gene 97
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1 96
Fibroblast growth factor receptor 2 (FGFR2) is a potential activator of the MLL-AF4 leukemogenic protein. 95
Lamellar ichthyosis and arthrogryposis in a premature neonate 95
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance 93
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene 91
Detection of beta-thalassemia mutations using the multiplex amplification refractory mutation system (MARMS) and the denaturing gradient gel electrophoresis (DGGE) 91
Screening fmr1 gene in patients with sporadic ataxia 90
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. 87
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 85
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants 84
Diagnosi molecolare e prenatale di coroideremia 83
Molecular genetics of inborn errors of metabolism: the case of hereditary fructose intolerance and hyperphenylalaninemia 81
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 79
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 79
From protein-protein interaction studies new potential therapeutic targets to treat the MLL-related acute lymphoblastic leukemias 78
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach 77
A unique origin for Sicilian (delta/beta)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 76
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at the arginine 303 in human liver aldolase 74
The molecular basis of hereditary fructose intolerance in italian children 72
The molecular basis of hereditary fructose intolerance in italian children 69
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies 68
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy 58
Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs) 47
null 34
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology 28
Spinal muscular atrophy in the era of newborn screening: how the classification could change 26
LAT1/SLC7A5-mediated amino acid uptake is regulated by redox signals triggered by formyl-peptide receptor 2 19
Regulation of Amino Acid Transporters by Cell Surface Receptors 10
Totale 11.126
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Categoria #
all - tutte 35.129
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 35.129
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022459 0 1 8 31 7 13 6 18 52 28 111 184
2022/2023709 81 83 18 58 96 76 15 57 81 102 31 11
2023/2024595 29 62 79 52 35 71 17 73 19 19 91 48
2024/20252.574 119 118 29 55 61 179 243 198 191 259 934 188
2025/20265.173 546 407 466 538 970 192 571 312 516 366 149 140
2026/2027408 122 286 0 0 0 0 0 0 0 0 0 0
Totale 11.126