A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.
Bibliographic record
Abstract
This report deals with a case of Cleidocranial Dysplasia (CCD) associated to a rare mutation of the RUNX2 gene and a peculiar dental phenotype, namely no supernumerary teeth. The aim consists in evaluating the long-term follow-up after treatment and discussing the pathogenetic mechanism of the mutation. We have carried out a clinical evaluation after treatment and attempted to analyze the potential pathogenetic effect of the mutation, based upon the available experimental structure of RUNX family domain and the highly conserved homology of RUNX1-3. Clinically the treatment has led to tooth development in crowns an roots, correction of cross-bite and eruption of the central maxillary incisor. The structural analysis has pointed out impairment in the DNA binding capability of the mutant protein. The described mutation, c.391C>T (p.R131C) appears to influence both structure and function of the protein by hampering the interaction of RUNX2 with DNA. The impaired function could explain the peculiar reported CCD phenotype. The dental condition of our patient has largely improved after treatment.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| 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".