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Identification of mutation of MYOC (c.1099G>A), a pedigree pathogenic gene of juvenile open angle glaucoma (JOAG): A case report.
Medicine (Baltimore)
November 2024
Department of Ophthalmology, Liaocheng People's Hospital, Liaocheng, Shandong, China.
Rationale: The MYOC gene is associated with juvenile open-angle glaucoma (JOAG). This study aims to provide genetic counseling for a Chinese JOAG family by detecting MYOC mutations to identify high-risk individuals for early JOAG intervention. It also supplements the clinical characteristics of glaucoma patients with MYOC gene mutations.
View Article and Find Full Text PDFCell-Specific Regulation of Inflammatory Cytokines and Acute-Phase Proteins by the Glucocorticoid Receptor.
Mediators Inflamm
December 2024
Department of Pharmacology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Background: Literature and data mining found abnormal induction of chemokine (C-X-C motif) ligand 1 (CXCL1) and CXCL8 and down-regulation of CXCL2 in inflammatory liver diseases. This study was performed to understand the glucocorticoid receptor's (GR's) effects on chemokine and acute-phase protein expression in human liver, in settings of bacterial infection (modeled using LPS) or inflammation (modeled using TNF).
Methods: Primary human hepatocytes (PHH) were treated with combinations of tumor necrosis factor alpha (TNF), lipopolysaccharide (LPS), and dexamethasone (DEX) for 24 h, following which chemokine mRNA and protein expression were analyzed using qPCR and enzyme-linked immunosorbent assay assays.
BRAF inhibitors enhance erythropoiesis and treat anemia through paradoxical activation of MAPK signaling.
Signal Transduct Target Ther
December 2024
The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Peking University, Beijing, 100871, China.
Article Synopsis
- * Researchers developed a screening system to find new erythropoiesis-stimulating agents and discovered that BRAF inhibitors used for melanoma can boost progenitor cell growth by slowing down their differentiation into red blood cells, especially in severe cases like DBA.
- * The study revealed that while BRAF inhibitors usually interfere with the MAPK pathway in cells with BRAF mutations, they actually enhance the pathway in normal BRAF cells, showing
Investigating the molecular mechanisms of oocyte maturation and ovulation in Nile tilapia: A focus on the steroidogenic enzyme Cyp17a2.
Zool Res
November 2024
Fisheries Engineering Institute, Chinese Academy of Fishery Sciences, Beijing 100141, China. E-mail:
Previous research has highlighted the significant role of progestins and glucocorticoids in fish oocyte maturation and ovulation. To clarify the molecular mechanisms underlying these processes, comprehensive investigations were conducted using a mutant Nile tilapia ( ) model. Analysis revealed pronounced Cyp17a2 expression in ovarian somatic cells of the tilapia.
View Article and Find Full Text PDFBinding Interaction Between Two Mutant Myocilin Olfactomedin Domain Monomers in a Homodimer.
J Phys Chem B
December 2024
Department of Chemistry, Dibrugarh University, Dibrugarh, Assam 786004, India.
In myocilin-associated glaucoma, pathogenic missense mutations accumulate mainly in the olfactomedin domain (mOLF) of myocilin. This makes the protein susceptible to aggregation, where mOLF-mOLF dimerization is possibly an initial stage. Nevertheless, there are no molecular level studies that have probed the nature of interactions occurring between two mOLF domains and the key characteristics of the resulting dimer complex.
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