Functional Analysis of Neutrophil Cytosolic Factor 4 (NCF4) in the pathogenesis of Pediatric Inflammatory Bowel Disease
Bibliographic record
Abstract
Genetic variants in NADPH oxidase are known to increase susceptibility of Very Early Onset Inflammatory Bowel Disease (VEOIBD). NADPH oxidase generates superoxide anions for bactericidal activity in phagocytes. Defects in NADPH oxidase lead to Crohn’s disease (CD) and Chronic Granulomatous Disease (CGD) like phenotypes, characterized by defective respiratory burst and inefficient pathogen clearance. This study evaluates the functional consequences of an autosomal recessive nonsense variant in NCF4 in the onset of pediatric IBD. It truncates p40phox (p40phox (W239X)), a subunit of the NADPH oxidase. It is reported that p40phox (W239X) loses its interaction with its known binding partner p67phox in NADPH oxidase and mislocalizes to early endosomes; instead of the cytoplasm. Impaired intracellular oxidative burst and reduced bactericidal activity were observed in macrophages stably expressing p40phox (W239X). It is proposed that p40phox (W239X) does not interact with NADPH oxidase causing its functional impairment and prompting the onset of pediatric IBD.
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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".