A genetic study of Dystroglycan in the «Drosophila melanogaster» eye
Bibliographic record
Abstract
Dystroglycan (DG) is a cell surface receptor that interacts both with the extracellular matrix (ECM) and the intracellular cytoskeleton. DG serves as the core protein of the dystrophin associated complex (DGC) linked to muscular dystrophies (MDs). A subset of MDs called Dystroglycanopathies, are associated with mutations which reduce DG's ability to interact with the ECM. In addition to muscle degeneration, Dystroglycanopathies have central nervous system defects including eye anomalies, lissencephaly and mental retardation. DG is conserved in D. melanogaster, where its deficiency in muscle leads to muscle degeneration, demonstrating that D. melanogaster serves as a model for MDs. Deficiency in DG during D. melanogaster eye development was studied to gain insights into the function of DG in the nervous system. Once the expression and localisation of DG was established, the eye development of two series of Dg mutant alleles was characterised using: immunofluorescence, histology, scanning electron microscopy and cell death assays. During photoreceptor (R cell) specification, DG concentrates to the apical surface and this location is maintained through early pupal development. The first Dg allele series tested, exemplified by Dg248, also contains a deletion in the mitochondrial ribosomal protein L34 (mRpL34). However, due to the mitochondrial dysfunction, Dg248 may serve as a model for the function of DG during metabolic stress. The severe disruption of eye development observed in eyes mosaic for Dg248 is significantly rescued by the transgenic expression of mRpL34. Dg248 eyes develop progressive loss of R cell morphology beginning during early pupa. Dg248 R cell pupal development is associated with the migration of R cell nuclei into their axons. Cell death levels are high during early Dg248 eye development and inhibition of this cell death, using the baculovirus caspase inhibitor p35, is detrimental to Dg248 eye development, suggesting a defect in com
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 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".