Publications by authors named "N F Safina"
Objective: This study aims to identify the compounds found in Lansium parasiticum leaf extract (LPLE) and explain its activity in the context of breast cancer prevention and therapy using a pharmacological network approach and its validation in silico to understand the molecular mechanisms involved.
Methods: Identification of compounds in LPLE is done using Liquid Chromatography Tandem Mass Spectrophotometry (LC-MS/MS). We also identified absorption and bioavailability profiles using ADMET software.
Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic condition primarily characterized by metaphyseal striations of long bones, bone sclerosis, macrocephaly, and other congenital anomalies. It is caused by pathogenic variants in AMER1, a tumor suppressor and a WNT signaling repressor gene with key roles in tissue regeneration, neurodevelopment, tumorigenesis, and other developmental processes. While somatic AMER1 pathogenic variants have frequently been identified in several tumor types (e.
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- Dominant variants in the RARB gene cause MCOPS12, a type of microphthalmia that comes with various birth defects and developmental delays, impacting 25 individuals in this study.
- The research employed transcriptional assays and structural analysis to evaluate how these RARB variants affect its typical function, revealing both gain-of-function and loss-of-function activities.
- Findings indicate that while RARB disruption leads to a variety of clinical outcomes, some affected individuals may not show key symptoms like eye abnormalities or motor issues, highlighting the complexity of these genetic variations.
Diamond-Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majority of the cases genetically described are linked to heterozygous pathogenic variants in more than 20 ribosomal protein genes. Here we report an atypical clinical case of DBA associated with a missense variant in RPL8, which encodes RPL8/uL2, a protein of the 60S large ribosomal subunit.
View Article and Find Full Text PDFPurpose: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.
Methods: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect.