P1601Mutations in ILK (integrin linked kinase) are associated with human arrhythmogenic cardiomyopathy and decreased survival in zebrafish
Bibliographic record
Abstract
Background and purpose: Arrhythmogenic cardiomyopathy (AC) is a genetic heart muscle disorder characterized by fibro-fatty replacement of cardiomyocytes, cardiac remodeling leading to life threatening ventricular arrhythmias, heart failure and sudden cardiac death. Genes encoding cardiac junctional proteins are known to cause about 50% of cases, while remaining causes are unknown. The sequence of cellular and molecular events leading to arrhythmias and heart failure is poorly understood. Methods and results: We clinically evaluated a family with AC with an early onset in children. The index case, a 14-year old girl died suddenly and autopsy revealed AC. Three other siblings at the ages of 12, 22 and 24 years were also affected by the disease and had defibrillators implanted. Whole exome analyses identified a novel variant in a new disease gene involved in cell- extracellular matrix connection: Integrin linked Kinase (ILK). We also found a second variant in another child with AC which appeared to be de novo. Localization experiments of mutant and wild-type ILK in transfected H9c2 and C2C12 cells demonstrated an aberrant cytoplasmic localization in cells transfected with mutant ILK.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".