Publications by authors named "G R GAZIZOVA"
Article Synopsis
- Tay-Sachs disease (TSD) is often underdiagnosed due to its symptoms resembling other neurological disorders; the study focuses on identifying genetic mutations in a late-onset TSD patient.
- Whole-exome sequencing identified two mutations associated with TSD, confirming the novel mutation's pathogenicity through various assays, highlighting the need for advanced genomic technologies in diagnoses.
- The research underscores the diagnostic challenges posed by similar symptoms and the importance of genetic awareness among clinicians to improve patient outcomes and inform future treatment options.
Article Synopsis
- The study examines the role of SoxB transcription factors in the neurogenesis of gastropods, focusing on their expression patterns from gastrula to hatching.
- The researchers used various techniques to analyze the spatial and temporal expression of these factors and observed differences in their presence between developmental stages.
- The findings suggest that prolonged expression of SoxB genes may enhance neurogenesis in gastropods, potentially influencing the diversity of their nervous systems.
Article Synopsis
- - The study investigates how craniofacial skeletal structures develop and how understanding this could improve treatments for congenital malformations through genome-wide RNA transcription analysis from human embryonic facial mesenchyme.
- - Researchers identified active regulatory elements linked to the PI3/AKT/mTORC1/autophagy pathway and tested its role in craniofacial development using genetic and pharmacological methods in mice and zebrafish.
- - Findings suggest that mTORC1 signaling influences craniofacial formation in response to environmental factors, particularly nutrition, highlighting its potential role in facial shape variations and developmental plasticity.
Article Synopsis
- The study reveals that inhibiting KIT signaling in gastrointestinal stromal tumors (GISTs) activates the FGFR signaling pathway, leading to resistance against imatinib (Gleevec) despite no secondary mutations present.
- Long-term culture of imatinib-resistant GISTs shows reduced KIT expression and increased activation of FGFR signaling, making them more sensitive to pan-FGFR inhibitors like BGJ 398.
- The findings highlight that targeting the FGF-2/FGFR2 signaling pathway could be a promising strategy for overcoming imatinib resistance in GISTs.
The sleeping chironomid Polypedilum vanderplanki is capable of anhydrobiosis, a striking example of adaptation to extreme desiccation. Tolerance to complete desiccation in this species is associated with emergence of multiple paralogs of protective genes. One of the gene families highly expressed under anhydrobiosis and involved in this process is protein-L-isoaspartate (D-aspartate) O-methyltransferases (PIMTs).
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