Bibliographic record
Abstract
PURPOSE OF REVIEW: In this review, we will outline the most recent and significant findings on the role of the lamin A/C in cardiac diseases. RECENT FINDINGS: Mutations in the lamin A/C gene (LMNA) are associated with numerous diseases involving the heart, skeletal muscles, bones, adipose and nervous tissues. LMNA is one of the most prevalent genes in dilated cardiomyopathy in which it is associated with a high risk of dysrhythmias, sudden death and heart failure. Lamins A and C interact with several proteins reflecting their multiple functions, some of which are likely still unknown. No abnormalities specific to dilated cardiomyopathy are emerging from investigations of striated muscles biopsies or fibroblasts from LMNA mutation carriers. An early diagnosis of the disease is difficult. Both animal and cellular models tend to confirm that lamins A and C play a key role in maintaining the nuclear architecture as well as in regulating transcription. SUMMARY: The cardiac phenotype associated to LMNA mutations is now much clearer, but the molecular mechanisms underlying cellular and tissue specific phenotypes are still puzzling. Systematic mutation screenings and cardioverter-defibrillator implantation have been recommended in patients with cardiac symptoms.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 0.005 |
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".