IRIS
BACHETTI, TIZIANA
 Distribuzione geografica
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Continente #
EU - Europa 5.657
AS - Asia 48
SA - Sud America 13
NA - Nord America 1
Totale 5.719
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Nazione #
IT - Italia 5.657
CN - Cina 30
BR - Brasile 9
VN - Vietnam 7
SG - Singapore 5
AR - Argentina 4
ID - Indonesia 4
BD - Bangladesh 1
IR - Iran 1
US - Stati Uniti d'America 1
Totale 5.719
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Città #
Genova 2.909
Genoa 1.693
Vado Ligure 442
Rapallo 367
Bordighera 244
Beijing 13
Ho Chi Minh City 4
Singapore 2
Araruama 1
Ashburn 1
Belo Horizonte 1
Haiphong 1
Hanoi 1
Isidro Casanova 1
Jakarta 1
João Pessoa 1
Mongaguá 1
Nova Friburgo 1
Oberá 1
Resistencia 1
Rio de Janeiro 1
Rome 1
Rosario 1
Sumaré 1
São João de Meriti 1
Tangerang 1
Valparaíso de Goiás 1
Yogyakarta 1
Totale 5.694
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Nome #
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 369
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome 167
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease 153
PHOX2B-mediated regulation of ALK expression: In vitro identification of a functional relationship between two genes involved in neuroblastoma 144
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 140
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 139
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 135
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 129
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene 126
MILD FUNCTIONAL EFFECTS OF A NOVEL GFAP MUTANT ALLELE IDENTIFIED IN A FAMILIAL CASE OF ADULT-ONSET ALEXANDER DISEASE 126
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 123
Curcumin induces a fatal energetic impairment in tumor cells in vitro and in vivo by inhibiting ATP-synthase activity 123
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening 122
Causative and common PHOX2B variants define a broad phenotypic spectrum 117
Ceftriaxone has a therapeutic role in Alexander disease 116
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins 112
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 112
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease 111
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up 111
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome 109
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 109
Functional characterization of a minimal sequence essential for the expression of human TLX2 gene 106
An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene 105
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome 104
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome 104
PHOX2B mutations and genetic predisposition to neuroblastoma 104
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells 104
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells 103
Mutational analysis of the RNX gene in congenital central hypoventilation syndrome 102
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS) 101
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 101
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 101
A multi-omics approach reveals impaired lipid metabolism and oxidative stress in a zebrafish model of Alexander disease 100
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both Congenital and Late-Onset Central Hypoventilation Syndrome 96
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 96
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome 95
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease 94
Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency 94
Proceedings of the fourth international conference on central hypoventilation 92
Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth 90
Comparative genomic sequence analysis coupled to Chromatin Immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus 88
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation 86
A focus on regulatory networks linking micrornas, transcription factors and target genes in neuroblastoma 84
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases 83
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism 81
A Proteomics Approach Identifies RREB1 as a Crucial Molecular Target of Imidazo–Pyrazole Treatment in SKMEL-28 Melanoma Cells 78
Fraisinib: a calixpyrrole derivative reducing A549 cell-derived NSCLC tumor in vivo acts as a ligand of the glycine-tRNA synthase, a new molecular target in oncology 75
A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population 71
null 71
Functional conservation and genetic divergence of chordate glycinergic neurotransmission: Insights from amphioxus glycine transporters 70
AMPHIOXUS NEUROGLIA: MOLECULAR CHARACTERIZATION AND EVIDENCE FOR EARLY COMPARTMENTALIZATION OF THE DEVELOPING NERVE CORD 61
CREATION OF A STABLE TRANSGENIC LINE FOR ALEXANDER DISEASE MODELING IN ZEBRAFISH 59
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease 58
Multiple approaches reveal altered lipid metabolism, neurotransmitter release and nervous conduction in a zebrafish model of Alexander Disease 52
Amphioxus neuroglia: Molecular characterization and evidence for early compartmentalization of the developing nerve cord 38
OSM/OSMR and Interleukin 6 Family Cytokines in Physiological and Pathological Condition 16
Totale 5.856
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Categoria #
all - tutte 20.566
article - articoli 19.901
book - libri 0
conference - conferenze 665
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 41.132
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021275 0 0 0 0 40 34 7 46 20 67 26 35
2021/2022646 26 17 17 91 48 51 29 144 34 80 23 86
2022/2023446 42 31 4 32 72 67 5 39 82 6 55 11
2023/2024546 21 40 1 40 24 42 43 247 20 11 17 40
2024/20251.232 40 70 45 76 146 116 111 218 62 56 146 146
2025/2026603 261 104 101 133 4 0 0 0 0 0 0 0
Totale 5.856