Publications by authors named "Jessica O Santis"

Medulloblastoma (MB) is the most common malignant brain tumor in children, comprising four distinct subgroups: wingless (WNT), sonic hedgehog (SHH), Group 3, and Group 4. MYC amplification and metastatic dissemination are challenges in clinical management, and tumor-associated macrophages (TAMs) play an essential role in these intricate molecular processes. However, the influence of immune cells in MB metastasis and MYC-amp is unclear.

View Article and Find Full Text PDF

Eukaryotic elongation factor 2 (eEF2) kinase (eEF2K) is a stress-responsive hub that inhibits the translation elongation factor eEF2, and consequently mRNA translation elongation, in response to hypoxia and nutrient deprivation. EEF2K is also involved in the response to DNA damage but its role in response to DNA crosslinks, as induced by cisplatin, is not known. Here we found that eEF2K is critical to mediate the cellular response to cisplatin.

View Article and Find Full Text PDF

Non-syndromic intellectual disability (NS-ID or idiopathic) is a complex neurodevelopmental disorder that represents a global health issue. Although many efforts have been made to characterize it and distinguish it from syndromic intellectual disability (S-ID), the highly heterogeneous aspect of this disorder makes it difficult to understand its etiology. Long noncoding RNAs (lncRNAs) comprise a large group of transcripts that can act through various mechanisms and be involved in important neurodevelopmental processes.

View Article and Find Full Text PDF

Objective: To report the frequency of Lynch syndrome (LS) in a cohort of patients from Southeast Brazil bearing endometrial cancer (EC), using a tumor screening universal approach.

Methods: A total of 242 endometrial carcinomas were screened by immunohistochemistry (IHC) and microsatellite instability (MSI) for detection of DNA mismatch repair deficiency (dMMR). MLH1 methylation was assessed to identify sporadic cases.

View Article and Find Full Text PDF