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Generation and Characterization of Three Novel Mouse Mutant Strains Susceptible to Audiogenic Seizures.
Cells
October 2024
Institute of Cell Biophysics of the Russian Academy of Sciences, Federal Research Center "Pushchino Scientific Center for Biological Research of the Russian Academy of Sciences", 142290 Pushchino, Russia.
The mechanisms of epileptogenesis after brain injury, ischemic stroke, or brain tumors have been extensively studied. As a result, many effective antiseizure drugs have been developed. However, there are still many patients who are resistant to therapy.
View Article and Find Full Text PDFGolgi-localized Ring Finger Protein 121 is necessary for MYCN-driven neuroblastoma tumorigenesis.
Commun Biol
October 2024
Children's Cancer Institute Australia for Medical Research, Lowy Cancer Research Centre, UNSW Sydney, Sydney, Australia.
Article Synopsis
- - MYCN amplification is linked to poor outcomes in childhood neuroblastoma and the study investigates the signaling dependencies associated with it through genetic manipulation in mice.
- - A mutation in the RNF121 gene was found to result in decreased tumor formation, with RNF121 playing a crucial role in enhancing MYCN protein stability and contributing to tumor growth.
- - Elevated RNF121 levels correlate with poor prognosis in neuroblastoma and laryngeal cancer, suggesting it as a potential target for new cancer therapies.
Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis.
FASEB J
October 2024
UCD School of Biomolecular and Biomedical Science, University College Dublin, Dublin, Ireland.
Inherited retinal diseases (IRDs) are a rare group of eye disorders characterized by progressive dysfunction and degeneration of retinal cells. In this study, we characterized the raifteirí (raf) zebrafish, a novel model of inherited blindness, identified through an unbiased ENU mutagenesis screen. A mutation in the largest subunit of the endoplasmic reticulum membrane protein complex, emc1 was subsequently identified as the causative raf mutation.
View Article and Find Full Text PDFPleiotropic brain function of whirlin identified by a novel mutation.
iScience
July 2024
MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Didcot, Oxfordshire OX11 0RD, UK.
Article Synopsis
- Evidence shows whirlin has different roles in neurons, but its impact on behavior and function hasn't been fully explored.
- A mutation in the whirlin gene, identified through a genetic screening, leads to hearing issues and increased hyperactivity in mice.
- The study demonstrates that whirlin is crucial for both hearing and activity-related behaviors, indicating broader roles for this protein in brain function.
Characterization of zebrafish coagulation cofactors Fviii and Fv mutants and modeling hemophilia A and factor V deficiency.
Blood Coagul Fibrinolysis
July 2024
Department of Biological Sciences, University of North Texas, Denton, Texas, USA.
Article Synopsis
- The study focuses on zebrafish models (fviii and fv mutants) to investigate their similarities to human hemophilia A and factor V deficiency.
- Zebrafish embryos were genetically manipulated and tested through various assays to evaluate bleeding and coagulation characteristics.
- Findings revealed that the mutant zebrafish display prolonged bleeding and coagulation issues, thus serving as a valuable model for researching potential treatments for these human conditions.
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