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Supplemental material, sj-docx-12-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-5-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-9-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-6-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-8-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-7-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-2-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-4-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Supplemental material, sj-docx-3-tam-10.1177_17588359221110162 for The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis by Antonio Galvano, Luisa Castellana, Valerio Gristina, Maria La Mantia, Lavinia Insalaco, Nadia Barraco, Alessandro Perez, Sofia Cutaia, Valentina Calò, Tancredi Didier Bazan Russo, Edoardo Francini, Lorena Incorvaia, Mario Giuseppe Mirisola, Salvatore Vieni, Christian Rolfo, Viviana Bazan and Antonio Russo in Therapeutic Advances in Medical Oncology

Hormesis is an adaptive stress response implicated in longevity regulation. Schroeder et al. (2013) have now connected stress, epigenetic changes, and aging in yeast by showing that mitochondria-derived reactive oxygen species modulate the chromatin binding capacity of the histone demethylase Rph1p at subtelomeres, resulting in lifespan extension.

libro di biologia e genetica

The yeast chronological lifespan to study aging and disease. In S.N. Witt (a cura di), yeast as a model for human disease.

We have constructed new yeast vectors for targeted integration and conditional expression of any sequence at the Saccharomyces cerevisiae TYR1 locus which becomes disrupted. We show that vector integration is not neutral, causing prototrophy for tyrosine and auxotrophy for the vector's selectable marker (uracil or leucine, depending on the vector used). This feature allows a double screening of transformed yeast cells, improving the identification of colonies with the desired chromosomal structure. The GAL10 gene promoter has been added to drive conditional expression of cloned sequences. Using these vectors, chromosomal structure verification of recombinant clones is no longer necessary, since the noise of non-homologous recombination, as well as spontaneous reversion of the selected phenotype, can easily be identified. The ability of the vector to conditionally control gene expression has been confirmed using the gene for the green fluorescent protein (GFP) as a reporter.

libro di testo

Elementi del pathway Ras-dipendente sono coinvolti, in S. cerevisiae, nel metabolismo del galattosio.

Screening of subtelomeric rearrangements in autism spectrum disorder. Identification of a partial trisomy of 13q in a patient.

Analisi molecolare del gene GRPR in una popolazione autistica siciliana.

Analisi molecolare di 3 geni (NLGN3, NLGN4, GRPR) localizzati sul cromosoma X in una popolazione autistica siciliana..

Molecular analyses of NLGN3, NLGN4, GRPR genes in a Sicilian autistic population.

Background: The circulating tumor DNA (ctDNA) diagnostic accuracy for detecting phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA) mutations in breast cancer (BC) is under discussion. We aimed to compare plasma and tissue PIK3CA alterations, encompassing factors that could affect the results. Methods: Two reviewers selected studies from different databases until December 2020. We considered BC patients with matched tumor tissue and plasma ctDNA. We performed meta-regression and subgroup analyses to explore sources of heterogeneity concerning tumor burden, diagnostic technique, sample size, sampling time, biological subtype, and hotspot mutation. Pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and the related area under the curve (AUC) were elaborated for the overall population and each subgroup. Results: The pooled analysis was carried out on 25 cohorts for a total of 1966 patients. The overall ctDNA sensitivity and specificity were 0.73 (95% CI: 0.70–0.77) and 0.87 (95% CI: 0.85–0.89). The AUC was 0.93. Pooled concordance, negative predictive value and positive predictive value values were 0.87 (95% CI: 0.82–0.92), 0.86 (95% CI: 0.81–0.90), and 0.89 (95% CI: 0.81–0.95) with pooled PLR, NLR, and DOR of 7.94 (95% CI: 4.90–12.86), 0.33 (95% CI: 0.25–0.45), and 33.41 (95% CI: 17.23–64.79), respectively. The pooled results consistently favored next-generation sequencing (NGS)- over polymerase chain reaction-based methodologies. The best ctDNA performance in terms of sensitivity, specificity, and AUC (0.85, 0.99, and 0.94, respectively) was observed in the low-time sampling subgroup (⩽18 days between tissue and plasma collection). Meta-regression and subgroup analyses highlighted sampling time as a possible major cause of heterogeneity. Conclusions: These findings reliably estimate the high ctDNA accuracy for the detection of PIK3CA mutations. A ctDNA-first approach for the assessment of PIK3CA mutational status by NGS may accurately replace tissue tumor sampling, representing the preferable strategy at diagnosis of metastatic BC in patients who present with visceral involvement and at least two metastatic lesions, primarily given low clinical compliance or inaccessible metastatic sites.

In diversi organismi, dal lievito ai mammiferi, è stato osservato che la riduzione dell'introito calorico aumenta la sopravvivenza e protegge dall'insorgenza di numerose patologie associate all'età. Il meccanismo molecolare tramite cui questo effetto si realizza non è ancora chiaro. Questa ricerca mette in evidenza il ruolo di singoli nutrienti nella sensibilizzazione agli stress e nella promozione dell'invecchiamento, identifica in particolare tre specifici aminoacidi che agiscono da segnalatori pro-aging e descrive le vie molecolari attraverso cui tali molecole agiscono. Poiché i pathway di segnalazione coinvolti nell'invecchiamento e nella risposta ai nutrienti sono significativamente conservati in tutti gli eucarioti, i risultati ottenuti nel sistema modello Saccharomyces cerevisiae suggeriscono un possibile intervento per la modulazione dell'invecchiamento anche nei mammiferi. Calorie restriction (CR), but also the restriction of specific components of the diet, has been known to affect longevity. However, the understanding of how each component of the macronutrients affects longevity and stress resistance is poorly understood. This study describes how each amino acid and glucose cooperate to activate cell sensitizing pathways and promote aging, identifies specific amino acids that affect cellular protection and aging and shows how different pathways mediate these pro-aging effects. Because of the conserved pro-aging role of orthologs of many of the genes in the signaling network involved, these results are likely to serve as a foundation for the elucidation of similar nutrient-dependent pro-aging mechanisms in mammals.