20 documents found, page 1 of 2
Exosomes modified with anti-MEK1 siRNA lead to an effective silencing of triple...
Ferreira, Débora Carina Gonçalves Abreu; Pereira, Cátia Sofia Santos; Costa, Marta; Afonso, Julieta Alexandra Pereira; Yang, Sujuan; Hensel, JanineTriple negative breast cancer (TNBC) is a highly heterogenous disease not sensitive to endocrine or HER2 therapy and standardized treatment regimens are still missing. Therefore, development of novel TNBC treatment approaches is of utmost relevance. Herein, the potential of MAPK/ERK downregulation by RNAi-based therapeutics in a panel of mesenchymal stem-like TNBC cell lines was uncovered. Our data revealed tha...
Nucleolin Overexpression Predicts Patient Prognosis While Providing a Framework...
Fernandes, Ângela Valério; Fonseca, Nuno A.; Gonçalves, Nélio; Cruz, Ana F.; Pereira, Marta I.; Gregório, Ana C.; Moura, Vera; Ladeirinha, Ana F.Notwithstanding the advances in the treatment of lung cancer with immune checkpoint inhibitors, the high percentage of non-responders supports the development of novel anticancer treatments. Herein, the expression of the onco-target nucleolin in patient-derived pulmonary carcinomas was characterized, along with the assessment of its potential as a therapeutic target. The clinical prognostic value of nucleolin f...
DEPDC5 variant in focal cortical dysplasia: a case report and review of the lit...
Ribeiro, Joana de Jesus; Pereira, Cristina Duarte; Robalo, Conceição; Pereira, Daniela J.; Duro, Diana; Ramos, Fabiana; Freire, António; Melo, Joana B.Germline and 2-hit brain somatic variants in DEPDC5 gene, a negative regulator of the mammalian target of rapamycin (mTOR) pathway, are increasingly recognized in patients with focal cortical dysplasia (FCD). Next-generation targeted sequencing identified a heterozygous germline variant in DEPDC5 gene (c.3241A>C, p.Thr1081Pro), classified as of unknown significance, in a patient with clinical features compatibl...
Mitochondrial Alterations in Fibroblasts of Early Stage Bipolar Disorder Patients
Marques, Ana P.; Resende, Rosa; Silva, Diana F.; Batista, Mariana; Pereira, Daniela; Wildenberg, Brigite; Morais, Sofia; Macedo, António; Pais, ClaudiaThis study aims to evaluate whether mitochondrial changes occur in the early stages of bipolar disorder (BD). Using fibroblasts derived from BD patients and matched controls, the levels of proteins involved in mitochondrial biogenesis and dynamics (fission and fusion) were evaluated by Western Blot analysis. Mitochondrial membrane potential (MMP) was studied using the fluorescent probe TMRE. Mitochondrial morph...
The Enhanced Efficacy of Intracellular Delivery of Doxorubicin/C6-Ceramide Comb...
Cruz, Ana F.; Caleiras, Mariana B.; Fonseca, Nuno A.; Gonçalves, Nélio; Mendes, Vera M.; Sampaio, Susana F.; Moura, Vera; Melo, Joana B.Targeting multiple cellular populations is of high therapeutic relevance for the tackling of solid tumors heterogeneity. Herein, the ability of pegylated and pH-sensitive liposomes, functionalized with the nucleolin-binding F3 peptide and containing doxorubicin (DXR)/C6-ceramide synergistic combination, to target, in vitro, ovarian cancer, including ovarian cancer stem cells (CSC), was assessed. The underlying ...
An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a ...
Wafa, Abdulsamad; Jarjour, Rami A.; Aljapawe, Abdulmunim; ALmedania, Suher; Liehr, Thomas; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.Background: About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromoso...
A new childhood ALL case with an extremely complex karyotype and acute spontane...
Wafa, Abdulsamad; Jarjour, Rami A; Alolabi, Doaa; Liehr, Thomas; Hamdan, Othman; Melo, Joana B.; Carreira, Isabel M.; Othman, Moneeb A. K.Background: B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL cases harbor recurrent abnormalities, including so-called complex karyotypes (CK). Tumor lysis syndrome (TLS) is a metabolic abnormality which may arise during cancer therapy and also, extremely ra...
Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands
Thielker, Jovanna; Weise, Anja; Othman, Moneeb A. K.; Carreira, Isabel M.; Melo, Joana B.; Von Eggeling, Ferdinand; Guntinas-Lichius, OrlandoPleomorphic adenomas (PAs) of salivary glands are the most frequent entity of solid parotid tumors. Nonetheless, their genetics is not yet well understood. Thus, the current study characterized 14 PAs using a unique combination of cytogenetic, molecular cytogenetic and/or molecular karyotyping based approaches. The current study applied G-banding based on trypsin treatment and Giemsa-staining in peripheral bloo...
MLPA analysis in a cohort of patients with autism
Peixoto, Sara; Melo, Joana B.; Ferrão, José; Pires, Luís M.; Lavoura, Nuno; Pinto, Marta; Oliveira, Guiomar; Carreira, Isabel M.Background: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation de...
Genetic and epigenetic characterization of the tumors in a patient with a tongu...
Ribeiro, Ilda Patrícia; Marques, Francisco; Barroso, Leonor; Miguéis, Jorge; Caramelo, Francisco; Santos, André; Julião, Maria J.; Melo, Joana B.Background: The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, and the overall survival is lower when compared with patients with a single or first tumor. Identifying biomarkers that predict the risk of relapse and the response to treatment is an emerging cl...