Bibliographic record
Abstract
Posterior polymorphous corneal dystrophy (PPCD) is an endothelial dystrophy mapped to 20p 12-q 12 (PPCD1). Mutations in VSX1, a transcription factor of the disease interval, were found in PPCD and keratoconus patients. However, no change was identified in the family used for mapping the locus. This thesis explores the possible additional mutation mechanisms to clarify the pathogenicity of VSX1 in corneal dystrophies. Six (4 novel) transcript variants of VSX1 were characterized by a 3'RACE assay but did not show any mutations in PPCD1 families. Six cis- regulatory modules were predicted in the vicinity of VSX1 (100 kb) but did not reveal any disease-associated mutations. Semiquantitative real-time RT-PCR detected expression of VSX1 in neonatal human cornea. Recombination events refine the disease interval in the original PPCD1 family from 20 to 16.44 cM. The refined interval contains CHED1 and a recently described PPCD locus for Czech families. Mutation analysis of PPCD1 families did not reveal any mutations in two candidate genes of the new interval.
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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 | 0.000 | 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".