Bibliographic record
Abstract
Hypertrophic cardiomyopathy is a phenotypically and genetically heterogeneous disease caused by MYH7 and MYBPC3 mutations. The objective of this study was to 1) create a model using patient hiPSC-cardiomyocytes from children with HCM and demonstrate rescue of phenotype via gene correction, and 2) identify differences in response to targeted and non-targeted drugs across different mutations. hiPSC-derived cardiomyocytes were generated from 4 pediatric HCM patients harbouring myosin mutations, and the mutations were corrected using CRISPR/Cas9 gene editing. The morphological, contractile, biochemical, and arrhythmogenic phenotype were compared between patient, gene-corrected, and healthy control hiPSC-CMs. We demonstrate the recapitulation of the HCM phenotype, with varying severity, in all four patient lines, which can be successfully rescued with gene correction. Targeted myosin inhibitor was effective in rescuing phenotype compared to a non-targeted drug. This provides a platform to functionally validate new variants and assess the ability of myosin-targeted drugs to rescue the HCM phenotype.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".