Insights into the role of connexin26 and connexin30 in skin health, syndromic disease, and cutaneous wound healing
Bibliographic record
Abstract
Connexin26 (Cx26) and Cx30 facilitate gap junctional intercellular communication (GJIC) in the epidermis and are linked to several syndromic skin diseases. We investigated 5 disease- linked Cx26 mutants and demonstrated that the severity and extent of disease can be predicted from the gain- or loss-of function properties of each mutant, as well as the ability to induce cell death. We also used transgenic mice expressing S17F Cx26 (linked to keratitis-ichthyosis- deafness syndrome) or A88V Cx30 (linked to Clouston Syndrome) to investigate the pathophysiology these skin diseases. We demonstrated that S17F Cx26, but not A88V Cx30, promotes palmoplantar keratoderma by disrupting keratinocyte differentiation. Primary keratinocyte cultures from these mice demonstrated the mutants can also affect gap junctional intercellular communication and cell migration. Lastly, we showed that mutant mice retain most wound healing properties. Together, we suggest that syndromic mutants often display gain-of-function properties and can disrupt keratinocyte differentiation in the epidermis.
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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".