Bibliographic record
Abstract
Recently, whole exome sequencing linked mutations in the E3 ligase RNF216 to the pathogenesis of the Gordon Holmes Syndrom. Though a molecular basis has been identified, the biological mechanism remains elusive and has yet to be well characterized. Since the cerebellum is an area in the brain involved in motor control, we selected it as our main target for experiments to study mechanisms underlying disease inflicted ataxia. In addition, the hypothalamus, a small, but powerful brain region controlling various neuroendocrine physiologies, was targeted for experiments due to symptoms of neuroendocrine dysfunction. Our objective was to determine mechanisms leading to ataxia and neuroendocrine failure with focus on the cerebellum and hypothalamus in a zebrafish model of Holmes Syndrome. We hypothesized that loss of rnf216 leads to a dysregulation in development, specifically in the brain regions of the cerebellum and hypothalamus. Thus, immunohistochemistry and in situ hybridization assays were used to analyze various cellular markers throughout development and hence further characterize a mutant phenotype.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".