<i>LACC1</i> Gene Defects in Familial Form of Juvenile Arthritis
Bibliographic record
Abstract
Juvenile idiopathic arthritis [JIA; Mendelian Inheritance in Man (MIM) 604302] is the most common chronic childhood arthritis, characterized by chronic articular findings of unknown origin, with heterogeneity in disease course and systemic involvement1,2. Epidemiologic studies based on different diagnostic criteria showed varying prevalence from 0.07 to 4.01 per 1000 children across populations, an increased risk for European descendants, and different subtype distributions among ethnic groups3,4. JIA is generally known as a complex genetic trait with non-Mendelian inheritance pattern possibly resulting from interactions of multiple genetic loci and environmental factors5. However, several studies have reported causative variants in the Laccase (multicopper oxidoreductase) domain-containing 1 ( LACC1 ; MIM 613409) gene in rare familial forms6,7,8. We present 17 patients (10 males and 7 females) from 7 families (5 with known parental consanguinity), each with 2–4 affected members diagnosed with JIA. This study was approved by the Institutional Review Board of Istanbul Technical University (MBG.22/2014) and carried out in compliance with the Declaration Helsinki. … Address correspondence to Dr. E. Tahir Turanlı, Dr. Orhan Öcalgiray Molecular Biology-Biotechnology and Genetics Research Centre, Istanbul Technical University, Ayazağa Campus, 34469 Maslak, Istanbul, Turkey. E-mail: turanlie{at}itu.edu.tr
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.002 |
| 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".