Related Experiment Video
Updated: Jun 10, 2025
06:42
Continuous Theta Burst Stimulation of the Posterior Medial Frontal Cortex to Experimentally Reduce Ideological Threat Responses
Published on: September 28, 2018
11.6K
StopKB: a comprehensive knowledgebase for nonsense suppression therapies
Nicolas Haas1, Julie Dawn Thompson1, Jean-Paul Renaud2
1Complex Systems and Translational Bioinformatics (CSTB), ICube laboratory-CNRS, University of Strasbourg, CRBS, 1 rue Eugène Boeckel, Strasbourg 67000, France.
Database : the Journal of Biological Databases and Curation
|October 12, 2024
Summary
StopKB is a new database for nonsense variations, which are genetic errors causing diseases. It identifies millions of variations, with many potentially treatable using new therapies.
Area of Science:
- Genetics and genomics
- Bioinformatics and computational biology
Background:
- Nonsense variations, marked by premature termination codons, are significant contributors to human genetic disorders and cancer risk.
- Developing effective therapies for premature termination codons is challenging due to their complexity.
Purpose of the Study:
- To create StopKB, a comprehensive knowledge base for nonsense variations.
- To aggregate and organize data on nonsense variations, genes, diseases, and phenotypes from multiple sources.
Main Methods:
- Developed StopKB, a knowledge base integrating data on nonsense variations.
- Collected and cataloged information on millions of variations, genes, diseases, and phenotypes.
- Created an interactive web interface for data exploration.
Main Results:
- StopKB contains 637,317 unique nonsense variations across 18,022 human genes.
- These variations are linked to 3,206 diseases and 7,765 phenotypes.
- ~32% of variations are nonsense-mediated mRNA decay-insensitive, indicating potential for nonsense suppression therapies.
Conclusions:
- StopKB is a valuable resource for understanding nonsense variations.
- Facilitates research in precision medicine and the development of targeted therapies for genetic diseases.
- The interactive interface aids researchers and clinicians in navigating nonsense variation data.
Related Concept Videos
01:22Behavior Therapy
43
Behavior therapy incorporates diverse techniques rooted in classical conditioning principles to address maladaptive behaviors and anxiety disorders. These methods aim to reduce avoidance behaviors, foster adaptive coping mechanisms, and alter associations between stimuli and responses, making them effective in a wide range of therapeutic contexts.
Exposure therapy is a cornerstone of behavioral treatment for anxiety disorders. It involves systematic exposure to feared stimuli, either in real...
Exposure therapy is a cornerstone of behavioral treatment for anxiety disorders. It involves systematic exposure to feared stimuli, either in real...
43
01:24Operant Conditioning Intervention
51
Operant conditioning serves as a foundational principle in therapeutic interventions aimed at modifying maladaptive behaviors. Central to this approach is the notion that behaviors, both adaptive and maladaptive, are learned through reinforcement. By analyzing the environmental factors that reinforce problematic behaviors, clinicians can design interventions to weaken these reinforcements and replace maladaptive behaviors with healthier alternatives.
In operant conditioning, behaviors that are...
In operant conditioning, behaviors that are...
51
01:30Cognitive Enhancers: Cholinesterase Inhibitors and NMDA Receptor Antagonists
106
Cognitive enhancers, also known as "smart drugs," are substances used to enhance memory, mental alertness, and concentration. These can be natural or synthetic and improve cognition in conditions like Alzheimer's disease (AD) and other neurodegenerative diseases. Some common examples include caffeine, amphetamines, methylphenidate, modafinil, arecoline, donepezil, vortioxetine, and piracetam. These enhancers work on the principle of synaptic plasticity and altered circuit function.
106
01:24Rational Emotive Behavior Therapy
43
Cognitive-behavioral therapies (CBTs) are grounded in the belief that our thoughts profoundly influence our emotions and actions. Advocates of CBT emphasize three core assumptions: first, that cognitions are identifiable and measurable; second, that they are central to psychological functioning; and third, that irrational or maladaptive beliefs can be replaced with rational and adaptive ones. This transformative approach to therapy has paved the way for specific models such as Albert...
43
01:18False Memories
75
False memories represent a cognitive distortion in which individuals recall events that did not happen, or remember them in an altered form. This phenomenon highlights the brain's constructive nature in processing and recalling memories, emphasizing that memory is not a perfect representation of past events but rather a dynamic reconstruction influenced by various factors.
One primary source of false memories is misattribution, where individuals incorrectly associate external information...
One primary source of false memories is misattribution, where individuals incorrectly associate external information...
75
01:21Behavior Modification
130
Behavioral approaches have often been criticized for ignoring mental processes and focusing solely on observable behavior. However, these approaches provide an optimistic perspective for individuals seeking to change their behaviors. Rather than concentrating on intrinsic personality traits, behavioral approaches suggest that even longstanding habits can be modified by changing the reward contingencies that maintain them.
A real-world application of operant conditioning principles is applied...
A real-world application of operant conditioning principles is applied...
130