Rôle de Hacd1 dans le développement et la physiologie des cellules musculaires
Bibliographic record
Abstract
Chez l’Homme et l’animal, les myopathies centronucleaires (CNMs) sont caracterisees par faiblesse musculaire et une hypotrophie des myofibres. Chez le Labrador retriever, une mutation dans le gene HACD1/PTPLA, codant une 3-hydroxyacyl-CoA deshydratase impliquee dans l’elongation des acides gras a tres longue chaine (AGTLC, C≥18), conduit a une CNM. Ce travail a consiste a caracteriser le role de HACD1 dans le developpement et la physiologie musculaires. Notre etude realisee sur des cellules deficientes pour HACD1 a montre que l’activite enzymatique de HACD1 etait necessaire a la fusion des myoblastes lors de la differenciation musculaire, via la regulation de l’equilibre lipidique et de la fluidite de la membrane. Chez les chiens atteints de CNM, l’absence de HACD1 entrainait une diminution du diametre des fibres musculaires ainsi que des anomalies de regeneration musculaire suggerant que le defaut de fusion contribue a l'hypotrophie des myofibres. Par ailleurs, les souris mutees pour Hacd1 developpaient des defauts du metabolisme glucidique ainsi que des defauts de l’activite retinienne, revelant ainsi deux nouveaux roles a l’echelle de l’organisme pour HACD1.
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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 | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".