Molecular characterization and functional analysis of the labrador retriever centronuclear myopathy
Bibliographic record
Abstract
Un modèle animal spontané de la myopathie centronucléaire (cnm) humaine a été décrit chez le Labrador retriever. La cartographie du locus cnm nous a permis d'identifier une insertion d'élément répété de type SINE dans l'exon 2 du gène Protein Tyrosine Phosphatase-Like, member A (PTPLA). Cette insertion co-ségrège parfaitement avec la maladie et altère la transcription de l'allèle qui en est porteur. Nous avons également décrit un profil d'expression complexe pour l'allèle PTPLA+. Par analyse phylogénétique, nous avons montré que PTPLA appartient à une famille de 4 protéines conservées chez les métazoaires. Toutes quatre contiennent des signaux de rétention dans le réticulum endoplasmique et pourraient participer à la fonction de celui-ci. Ainsi, nos résultats permettent d'impliquer un gène supplémentaire dans le maintien de l'homéostasie des fibres musculaires et illustrent le potentiel du modèle canin pour l'identification des voies moléculaires impliquées dans les maladies humaines.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".