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排序方式: 共有339条查询结果,搜索用时 130 毫秒
31.
Chiara Guglielmi Rosa Scarpitta Gaetana Gambino Eleonora Conti Francesca Bell Mariella Tancredi Tiziana Cervelli Elisabetta Falaschi Cinzia Cosini Paolo Aretini Caterina Congregati Marco Marino Margherita Patruno Brunella Pilato Francesca Spina Luisa Balestrino Elena Tenedini Ileana Carnevali Laura Cortesi Enrico Tagliafico Maria Grazia Tibiletti Stefania Tommasi Matteo Ghilli Caterina Vivanet Alvaro Galli Maria Adelaide Caligo 《International journal of molecular sciences》2021,22(14)
With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (ATM, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53) in a cohort of 450 Italian patients with Hereditary Breast/Ovarian Cancer Syndrome, wild type for germline mutation in BRCA1/2 genes. The analysis was extended to 5′UTR and 3′UTR of all the genes listed above and to the BRCA1 and BRCA2 known regulatory regions in a subset of 120 patients. The screening was performed through NGS target resequencing on the Illumina platform MiSeq. 8.7% of the patients analyzed is carriers of class 5/4 coding variants in the ATM (3.6%), BRIP1 (1.6%), CHEK2 (1.8%), PALB2 (0.7%), RAD51C (0.4%), RAD51D (0.4%), and TP53 (0.2%) genes, while variants of uncertain pathological significance (VUSs)/class 3 were identified in 9.1% of the samples. In intron-exon junctions and in regulatory regions, variants were detected respectively in 5.1% and in 32.5% of the cases analyzed. The average age of disease onset of 44.4 in non-coding variant carriers is absolutely similar to the average age of disease onset in coding variant carriers for each proband’s group with the same cancer type. Furthermore, there is not a statistically significant difference in the proportion of cases with a tumor onset under age of 40 between the two groups, but the presence of multiple non-coding variants in the same patient may affect the aggressiveness of the tumor and it is worth underlining that 25% of patients with an aggressive tumor are carriers of a PTEN 3′UTR-variant. This data provides initial information on how important it might be to extend mutational screening to the regulatory regions in clinical practice. 相似文献
32.
Eleonora Polo Fabrizio Forlini Valerio Bertolasi Antonella Caterina Boccia Maria Carmela Sacchi 《Advanced Synthesis \u0026amp; Catalysis》2008,350(10):1544-1556
We report here the synthesis of new tethered biscyclopentadienyl and bisindenyl zirconocenes, bearing one unsaturation on the interannular bridge, and their use as self‐immobilizing catalysts. They proved to be active catalysts towards ethylene polymerization in solution, with activities comparable to those displayed by commercial rac‐Et(Ind)2ZrCl2. When tested as self‐polymerization catalysts under suitable experimental conditions, they gave colored precipitates that, once reactivated with MAO, were significantly active in ethylene polymerization, although lower than those of the corresponding catalytic systems in solution. The molecular weights of the produced polymers were similar to those obtained with the same catalysts in solution, but their distribution resulted to be broader, with values typical of heterogeneous catalytic systems. From 13C NMR studies we had the first spectroscopic evidence of the actual incorporation of a metallocene of this type into a polymeric chain. 相似文献
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Tim Helbing Caterina Carraro Alexander Francke Dr. Alice Sosic Michele De Franco Prof. Dr. Valentina Gandin Prof. Dr. Richard Göttlich Prof. Dr. Barbara Gatto 《ChemMedChem》2020,15(21):2040-2051
In this study, we describe the synthesis and biological evaluation of a set of bis-3-chloropiperidines (B−CePs) containing rigid aromatic linker structures. A modification of the synthetic strategy also enabled the synthesis of a pilot tris-3-chloropiperidine (Tri-CeP) bearing three reactive meta-chloropiperidine moieties on the aromatic scaffold. A structure–reactivity relationship analysis of B−CePs suggests that the arrangement of the reactive units affects the DNA alkylating activity, while also revealing correlations between the electron density of the aromatic system and the reactivity with biologically relevant nucleophiles, both on isolated DNA and in cancer cells. Interestingly, all aromatic 3-chloropiperidines exhibited a marked cytotoxicity and tropism for 2D and 3D cultures of pancreatic cancer cells. Therefore, the new aromatic 3-chloropiperidines appear to be promising contenders for further development of mustard-based anticancer agents aimed at pancreatic cancers. 相似文献
35.
Andrea Angius Antonio Mario Scanu Caterina Arru Maria Rosaria Muroni Vincenzo Rallo Giulia Deiana Maria Chiara Ninniri Ciriaco Carru Alberto Porcu Giovanna Pira Paolo Uva Paolo Cossu-Rocca Maria Rosaria De Miglio 《International journal of molecular sciences》2021,22(4)
Colorectal cancer (CRC) is a leading cause of cancer death worldwide, and about 20% is metastatic at diagnosis and untreatable. Increasing evidence suggests that the heterogeneous nature of CRC is related to colorectal cancer stem cells (CCSCs), a small cells population with stemness behaviors and responsible for tumor progression, recurrence, and therapy resistance. Growing knowledge of stem cells (SCs) biology has rapidly improved uncovering the molecular mechanisms and possible crosstalk/feedback loops between signaling pathways that directly influence intestinal homeostasis and tumorigenesis. The generation of CCSCs is probably connected to genetic changes in members of signaling pathways, which control self-renewal and pluripotency in SCs and then establish function and phenotype of CCSCs. Particularly, various deregulated CCSC-related miRNAs have been reported to modulate stemness features, controlling CCSCs functions such as regulation of cell cycle genes expression, epithelial-mesenchymal transition, metastasization, and drug-resistance mechanisms. Primarily, CCSC-related miRNAs work by regulating mainly signal pathways known to be involved in CCSCs biology. This review intends to summarize the epigenetic findings linked to miRNAome in the maintenance and regulation of CCSCs, including their relationships with different signaling pathways, which should help to identify specific diagnostic, prognostic, and predictive biomarkers for CRC, but also develop innovative CCSCs-targeted therapies. 相似文献
36.
Carina A. Lämmle Adam Varady Thorsten G. Müller Dr. Caterina Sturtzel Michael Riepl Bettina Mathes Jenny Eichhorst Dr. Anje Sporbert Dr. Martin Lehmann Prof. Dr. Hans-Georg Kräusslich Dr. Martin Distel Dr. Johannes Broichhagen 《Chembiochem : a European journal of chemical biology》2021,22(3):548-556
Selective targeting of DNA by means of fluorescent labeling has become a mainstay in the life sciences. While genetic engineering serves as a powerful technique and allows the visualization of nucleic acid by using DNA-targeting fluorescent fusion proteins in a cell-type- and subcellular-specific manner, it relies on the introduction of foreign genes. On the other hand, DNA-binding small fluorescent molecules can be used without genetic engineering, but they are not spatially restricted. Herein, we report a photocaged version of the DNA dye Hoechst33342 (pcHoechst), which can be uncaged by using UV to blue light for the selective staining of chromosomal DNA in subnuclear regions of live cells. Expanding its application to a vertebrate model organism, we demonstrate uncaging in epithelial cells and short-term cell tracking in vivo in zebrafish. We envision pcHoechst as a valuable tool for targeting and interrogating DNA with precise spatiotemporal resolution in living cells and wild-type organisms. 相似文献
37.
Alessandro Caputo Angela DArdia Francesco Sabbatino Caterina Picariello Chiara Ciaparrone Pio Zeppa Antonio DAntonio 《International journal of molecular sciences》2021,22(9)
The current standard of care for advanced non-small-cell lung cancer is based on detecting actionable mutations that can benefit from targeted therapy. Comprehensive genetic tests can have long turn-around times, and because EGFR mutations are the most prevalent actionable mutation, a quick detection would enable a prompt initiation of targeted therapy. Furthermore, the scarcity of diagnostic material means that sometimes only cytologic material is available. The Idylla™ EGFR assay is a real-time PCR–based method able to detect 51 EGFR mutations in 2.5 h. Idylla is validated for use only on FFPE sections, but some researchers described their experiences with cytological material. We reviewed the relevant literature, finding four articles describing 471 cases and many types of cytological input material: smears, cell-block sections, suspensions, and extracted DNA. The sensitivity, specificity, and limit of detection appear comparable to those obtained with histological input material, with one exception: the usage of scraped stained smears as input may reduce the accuracy of the test. In conclusion, usage of cytological material as input to the Idylla EGFR test is possible. A workflow where common mutations are tested first and fast, leaving rarer mutations for subsequent comprehensive profiling, seems the most effective approach. 相似文献
38.
Buzzi Maria Claudia Buzzi Marina Perrone Erico Senette Caterina 《Universal Access in the Information Society》2019,18(4):891-907
Universal Access in the Information Society - Today, ICT technology offers mobile, customized user-friendly environments to support learning and stimulate an individual’s potential. However,... 相似文献
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Carone Simone Moramarco Vincenzo Pappalettera Giovanni Barbieri Giuseppe Casavola Caterina 《Journal of Materials Science》2022,57(1):671-686
Journal of Materials Science - Residual stress assessment is a key factor in engineering design owing to its impact on engineering properties of materials, structural components and welded joints.... 相似文献