IRIS
BACHETTI, TIZIANA
 Distribuzione geografica
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Continente #
EU - Europa 3.917
Totale 3.917
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Nazione #
IT - Italia 3.917
Totale 3.917
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Città #
Genova 2.909
Genoa 397
Rapallo 367
Bordighera 244
Totale 3.917
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Nome #
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 350
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome 132
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease 120
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 119
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 109
PHOX2B-mediated regulation of ALK expression: In vitro identification of a functional relationship between two genes involved in neuroblastoma 107
MILD FUNCTIONAL EFFECTS OF A NOVEL GFAP MUTANT ALLELE IDENTIFIED IN A FAMILIAL CASE OF ADULT-ONSET ALEXANDER DISEASE 106
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 99
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 98
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene 98
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins 94
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 92
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome 89
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells 89
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome 87
Curcumin induces a fatal energetic impairment in tumor cells in vitro and in vivo by inhibiting ATP-synthase activity 86
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells 85
Ceftriaxone has a therapeutic role in Alexander disease 85
Functional characterization of a minimal sequence essential for the expression of human TLX2 gene 85
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease 84
PHOX2B mutations and genetic predisposition to neuroblastoma 82
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome 80
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 79
Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth 78
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up 77
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 76
Causative and common PHOX2B variants define a broad phenotypic spectrum 76
An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene 75
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 74
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 74
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 73
Mutational analysis of the RNX gene in congenital central hypoventilation syndrome 72
Proceedings of the fourth international conference on central hypoventilation 72
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS) 71
Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency 68
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening 68
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome 67
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation 65
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism 65
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases 63
Amphioxus neuroglia: Molecular characterization and evidence for early compartmentalization of the developing nerve cord 62
Comparative genomic sequence analysis coupled to Chromatin Immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus 60
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease 57
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 54
A Common 3'UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population 40
A focus on regulatory networks linking micrornas, transcription factors and target genes in neuroblastoma 30
Functional conservation and genetic divergence of chordate glycinergic neurotransmission: Insights from amphioxus glycine transporters 30
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 16
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease 14
AMPHIOXUS NEUROGLIA: MOLECULAR CHARACTERIZATION AND EVIDENCE FOR EARLY COMPARTMENTALIZATION OF THE DEVELOPING NERVE CORD 13
OSM/OSMR and Interleukin 6 Family Cytokines in Physiological and Pathological Condition 1
Totale 4.046
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Categoria #
all - tutte 12.460
article - articoli 12.373
book - libri 0
conference - conferenze 87
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.920
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.255 109 17 41 80 97 152 192 100 138 183 108 38
2020/2021389 19 39 35 21 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
2024/202525 25 0 0 0 0 0 0 0 0 0 0 0
Totale 4.046