IRIS
ESPOSITO, GABRIELLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.312
EU - Europa 1.184
AS - Asia 195
AF - Africa 19
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 2.717
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Nazione #
US - Stati Uniti d'America 1.299
IT - Italia 680
CN - Cina 141
UA - Ucraina 126
NL - Olanda 105
FI - Finlandia 61
IE - Irlanda 51
DE - Germania 49
VN - Vietnam 36
GB - Regno Unito 35
FR - Francia 26
SE - Svezia 21
CI - Costa d'Avorio 19
CA - Canada 13
CH - Svizzera 12
BE - Belgio 8
BR - Brasile 5
HK - Hong Kong 4
IN - India 4
IR - Iran 3
RO - Romania 3
KR - Corea 2
PL - Polonia 2
RS - Serbia 2
SA - Arabia Saudita 2
SG - Singapore 2
AU - Australia 1
ES - Italia 1
EU - Europa 1
LU - Lussemburgo 1
PT - Portogallo 1
TR - Turchia 1
Totale 2.717
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Città #
Chandler 292
Napoli 132
Jacksonville 105
Amsterdam 96
Ashburn 88
Millbury 79
Naples 76
Princeton 58
Boston 50
Nanjing 44
Beijing 37
Dong Ket 36
Des Moines 29
Wilmington 28
Milan 21
Lawrence 16
Rome 16
Washington 16
Woodbridge 16
Redwood City 14
Cagliari 12
Ottawa 12
Caserta 11
Ann Arbor 10
Boardman 10
Kronberg 10
Nanchang 10
Geneva 9
Hebei 9
Houston 9
Nocera Superiore 9
Bacoli 8
Waanrode 8
Changsha 7
Norwalk 7
Bari 6
Helsinki 6
Indiana 6
Kunming 6
Marano Di Napoli 6
Pozzuoli 6
Shenyang 6
Turin 6
Berlin 5
Catania 5
Citta 5
Fairfield 5
Jiaxing 5
Palermo 5
Ribeirão Prêto 5
Acerra 4
Casoria 4
Giugliano In Campania 4
Hong Kong 4
Mountain View 4
Pomigliano d'Arco 4
Roccabascerana 4
Tianjin 4
Torre Del Greco 4
Benevento 3
Crotone 3
Falls Church 3
Florence 3
Fremont 3
Hangzhou 3
Marina di Gioiosa Ionica 3
Pune 3
Seattle 3
Acquasparta 2
Acquaviva Delle Fonti 2
Agropoli 2
Alfonsine 2
Alghero 2
Ansbach 2
Belgrade 2
Bologna 2
Dearborn 2
Dublin 2
Erlangen 2
Gdansk 2
Isernia 2
Jeddah 2
Lappeenranta 2
Marcianise 2
Marigliano 2
Matera 2
Montecorvino Rovella 2
New York 2
Orange 2
Osimo 2
Passirano 2
Potenza 2
San Giuliano Milanese 2
San Mateo 2
San Nicola la Strada 2
Shanghai 2
Simi Valley 2
Termoli 2
Walnut 2
Zurich 2
Totale 1.600
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Nome #
DEGENERAZIONI RETINICHE EREDITARIE: GENETICA MOLECOLARE DELLE RETINITI PIGMENTOSE DOMINANTI E DELLA COROIDEREMIA 297
Analisi del ruolo di interattori molecolari AF4-specifici nella funzione aberrante dell’oncoproteina chimerica MLL-AF4 71
Intranuclear Signaling Cascades Triggered by Nuclear GPCRs 66
Analisi del ruolo funzionale di AF4, proteina coinvolta nella patogenesi molecolare della leucemia linfoblastica acuta, mediante l'identificazione di partners molecolari e geni target 63
ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study 59
14-3-3 theta, a direct interactor of AF4, influences HOXA9 expression in RS4;11 leukemia cell line. 58
A sporadic case of hemophilia A detected by RFLP analysis 54
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. 50
Formyl Peptide Receptor 1 Modulates Endothelial Cell Functions by NADPH Oxidase-Dependent VEGFR2 Transactivation 50
Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells 49
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss 48
Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child 47
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 46
Pro-Resolving FPR2 Agonists Regulate NADPH Oxidase-Dependent Phosphorylation of HSP27, OSR1, and MARCKS and Activation of the Respective Upstream Kinases 46
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 46
A novel mutation in RP1 is a major cause of autosomal dominant retinitis pigmentosa in Southern Italy. 45
A study of aldolase B gene in patients with hereditary fructose intolerance 43
Hereditary fructose intolerance and celiac disease: a novel genetic association 43
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 43
Phosphoproteomic analysis sheds light on intracellular signaling cascades triggered by Formyl-Peptide Receptor 2 43
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. 42
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene 41
A unique origin for the Sicilian (__)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis. 40
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 39
CHM/REP1 transcript expression and loss of visual function in patients affected by choroideremia 38
A sporadic case of hemophilia A detected by RFLP analysis 37
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing 36
A unique origin for Sicilian (delta/beta)°-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 35
Fisiopatologia molecolare di proteine coinvolte in pathways di regolazione genica cervello-specifica attraverso l'identificazione dei loro interattori macromolecolari 35
BBS1, BBS10 and BBS2 are major causative genes for Bardet-Biedl syndrome in Italian patients. 35
null 34
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion 33
Rod and cone-mediated function in choroideremia carriers with mutations in the REP-1 gene 32
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 32
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at the arginine 303 in human liver aldolase 31
Interaction with 14-3-3 θ reduces AF4 transactivation function by inhibiting its nuclear translocation 31
Characterization of the interactome of the proto-oncogene AF4 30
Identification of two mutation within the transglutaminase 1 gene patients with lamellar ichthyosis. 30
Comprehensive molecular analysis of DMD gene increases the diagnostic value of dystrophinopathies: A pilot study in a southern Italy cohort of patients 30
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. 29
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies 29
14-3-3 θ over-expression increases both the cytosolic amount of AF4 and the expression levels of its target genes. 28
Screening fmr1 gene in patients with sporadic ataxia 28
Lamellar ichthyosis and arthrogryposis in a premature neonate 28
NOX2-Dependent Reactive Oxygen Species Regulate Formyl-Peptide Receptor 1-Mediated TrkA Transactivation in SH-SY5Y Cells 28
Transglutaminase 1 Gene Mutations in Italian Patients with Autosomal Recessive Lamellar Ichthyosis 27
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. 27
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance 27
Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation 27
Regulation of inflammation and oxidative stress by formyl peptide receptors in cardiovascular disease progression 27
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function 26
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients 26
Identificazione di interattori proteici di AF4, partner di traslocazione del gene MLL (Mixed Lineage Leukaemia) nelle leucemie acute 25
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene 25
NOX Dependent ROS Generation and Cell Metabolism 24
MLL-AF4 oncoprotein up-regulates fibroblast growth factor receptor 2 (FGFR2) gene expression in hematopoietic progenitor cells 24
Regulation of the aldolase C gene expression and studies of the aldolase B molecular alterations causing hereditary fructose intolerance 23
Rapid identification of beta-globin gene cluster mutations by a variety of PCR based procedures 23
Detection of beta-thalassemia mutations using the multiplex amplification refractory mutation system (MARMS) and the denaturing gradient gel electrophoresis (DGGE) 23
The molecular basis of hereditary fructose intolerance in italian children 23
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1 23
Phosphorylation sites in protein kinases and phosphatases regulated by formyl peptide receptor 2 signaling 23
Nuclear fgfr2 interacts with the mll-af4 oncogenic chimera and positively regulates hoxa9 gene expression in t(4;11) leukemia cells 23
The molecular basis of hereditary fructose intolerance in italian children 22
Fibroblast growth factor receptor 2 (FGFR2) is a potential activator of the MLL-AF4 leukemogenic protein. 22
MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells 20
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature 20
Formyl-Peptide Receptor 2 Signaling Redirects Glucose and Glutamine into Anabolic Pathways in Metabolic Reprogramming of Lung Cancer Cells 19
Molecular characterization of choroideremia-associated deletions reveals an unexpected regulation of CHM gene transcription 19
Diagnosi molecolare e prenatale di coroideremia 18
Interleukin-1 receptor-associated kinase 1 (IRAK1) and Heat shock protein 90 kDa alpha B1 (HSP90) are up-regulated by AF4. 18
Posters 17
Protein network study of human AF4 reveals its central role in the RNA Pol II-mediated transcription and in phosphorylation-dependent regulatory mechanisms. 14
From protein-protein interaction studies new potential therapeutic targets to treat the MLL-related acute lymphoblastic leukemias 14
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy 13
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene 12
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance. 12
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient 11
Molecular genetics of inborn errors of metabolism: the case of hereditary fructose intolerance and hyperphenylalaninemia 10
Formyl Peptide Receptor 2-Dependent cPLA2 and 5-LOX Activation Requires a Functional NADPH Oxidase 8
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab 6
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 4
Formyl-peptide receptor 2 signalling triggers aerobic metabolism of glucose through Nox2-dependent modulation of pyruvate dehydrogenase activity 4
SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML 3
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance 2
Totale 2.832
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Categoria #
all - tutte 9.846
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 9.846
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201916 0 0 0 0 0 0 0 0 0 4 9 3
2019/2020296 88 9 24 10 43 12 14 6 4 24 28 34
2020/2021369 13 23 33 28 46 48 38 14 33 17 32 44
2021/2022472 13 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
2023/2024456 29 62 79 52 35 71 21 73 19 15 0 0
Totale 2.832