Mutations in Lamin A/C and their binding partners and nuclear envelope phenotype in cardiomyocytes from Dilated cardiomoyopathy patients
Bibliographic record
Abstract
Lamin A/C gene is one of most frequently reported mutated genes in dilated cardiomyopathy which is characterized by the dilatation of cardiac chambers and impaired contraction. Lamin A and C are major components of the nuclear lamina. From a cohort of DCM patients, we selected seven patients displaying major cardiomyocytes nucleus envelope abnormalities on electron microscopy images. In the DNA from these patients, we screened both Lamin A/C and thymopoietin genes for mutations by direct sequencing. Thymopoietin is the only lamin A/C binding partner previously shown to harbor a mutation in a DCM patient. Only one of these seven patients carried a mutation in the lamin A/C gene. No patient carried a mutation in the thymopoietin gene. In our control population of DCM patients with normal ultrastructural phenotype, two patients bore a lamin A/C gene mutation; none had a mutation in the thymopoietin gene. Taken together, our results suggest that patients with a clinical suspicion of lamin A/C mutation and with marked abnormality of cardiomyocytes nuclei might be free of both lamin A/C and thymopoietin germline mutation. These patients may therefore carry a mutation in another gene encoding a protein involved in the maintenance of the nuclear architecture or a somatic mutation. Furthermore, the occurrence of mutation in one of these genes does not necessary lead to cardiomyocyte nuclear envelope defects.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| 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) | 0.000 | 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 teacher head, 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".